Tethered Fun

transcription regulatory
protein in tetherd
population
domain
sl.no acc id protein name architecture gene id
1(LisH)+8(WD40)
1 A1L4B3_HUMAN Transducin (Beta)-like 1Y-linked TBL1Y
Uncharacterized protein TLE1 1TLE_N+6wd40
2 TLE1
3 A6NIY7_HUMAN Uncharacterized protein TLE4 TLE_N+6wd40 TLE4
cDNA FLJ76273, highly similar

to Homo sapiens transducin-like
enhancer of split 1 (E(sp1)
homolog, Drosophila) (TLE1),
4 A8K495_HUMAN mRNA 1(TLE_N)+6wd40 TLE1
5 A8MSP9_HUMAN Uncharacterized protein TLE4 1(TLE_N)+6wd40 TLE4

Transducin-like enhancer protein
6 TLE1_HUMAN 1 1TLE_N+6wd40 TLE1



TAF5-like RNA polymerase II,

p300/CBP-associated factor 1TFIID_90kDa+1W
10 Q5TDI5_HUMAN (PCAF)-associated factor, 65kDa D TAF5L
TAF5-like RNA polymerase II,
p300/CBP-associated factor 1TFIID_90kDa+6W
11 Q5TDI6_HUMAN (PCAF)-associated factor, 65kDa D TAF5L
12 Q6PI57_HUMAN TLE3 protein TLE_N +7WD TLE3
Q8IVB7|
Q8IVB7_HUMAN
13 532 Transducin (Beta)-like 3 13WD+UTP13 TBL1Y
Q9BQ87|
TBL1Y_HUMAN F-box-like/WD repeat-containing
14 661 protein TBL1Y 8WD+LiSH TBL1Y
7WD+1HIRA_B+1
15 HIRA_HUMAN Protein HIRA HIRA HIRA
1 LisH+
Transcription initiation factor 1TFIID_90kDa+6w
16 TAF5_HUMAN TFIID subunit 5 d40 TAF5
2WD+SOCS
17 Q5T3M3_HUMAN Tubby like protein 4 _BOX+TUB TULP4
Q9H7D7|
WDR26_HUMAN
18 692 WD repeat-containing protein 26 5WD+CTLH+LisH WDR26
Q9NRJ4|
TULP4_HUMAN
19 716 Tubby-related protein 4 1WD+SOCS+TUB TULP4
Q9NSI6|
BRWD1_HUMAN Bromodomain and WD repeat-
20 718 containing protein 1 6WD+2BROMO BRWD1
Tyrosine-protein kinase receptor 1HELP+1WD40+1
Pkinase_Tyr
21 A6P4V4_HUMAN DDR1

to H.sapiens HIRA mRNA
3(wd40)+1(HIRA_
22 A8K194_HUMAN B)+1(Hira) HIRA
E3 ubiquitin-protein ligase 1RING+1zf-

23 TRAF7_HUMAN TRAF7 TRAF+7WD TRAF7
to Homo sapiens TAF5 RNA
polymerase II, TATA box binding
protein (TBP)-associated factor, 1LISH+1(TFIID_90
24 A8K5B4_HUMAN 100kDa (TAF5), mRNA kDa)+6wd40 TAF5
2WD+1SOCS+2W
25 Q5T3M2_HUMAN Tubby like protein 4 D+1SOCS+TUB TULP4
transcription regulatory
protein only wd proteins
domain
Q8WUA4|
TF3C2_HUMAN General transcription factor 3C
1 608 polypeptide 2 4WD GTF3C2
Periodic tryptophan protein 1

2 PWP1_HUMAN homolog 4WD PWP1
cDNA FLJ75662, highly
similar to Homo sapiens
A8K3R6_HUMA PWP1 homolog (S. cerevisiae)
3 N (PWP1), mRNA 4WD40 PWP1
MED16_HUMAN Mediator of RNA polymerase II

4 762 transcription subunit 16 1WD MED16

to Homo sapiens prolactin
regulatory element binding
5 A8K813_HUMAN (PREB), mRNA 4WD PREB
Guanine nucleotide-binding
6 GBB5_HUMAN protein subunit beta-5 5WD GNB5
7 Q05DB2_HUMAN PREB protein 4WD PREB
Histone-binding protein
8 RBBP4_HUMAN RBBP4 6WD RBBP4
Histone-binding protein
9 RBBP7_HUMAN RBBP7 6WD RBBP7
Q5JNZ9_HUMAN Retinoblastoma binding

10 354 protein 7 6WD RBBP7
Q9HCU5|
PREB_HUMAN Prolactin regulatory element-
11 711 binding protein 4WD PREB
Q9UNY7|
Q9UNY7_HUMAN
12 755 WAIT-1 6WD EED
STRAP_HUMAN Serine-threonine kinase

13 763 receptor-associated protein 7WD STRAP

to Homo sapiens
retinoblastoma binding protein GTF2IRD
14 A8K272_HUMAN 5, mRNA 5wd40 1
cDNA FLJ77396, highly
similar to Homo sapiens signal
transducer and activator of
transcription 3 interacting
15 A8KAI6_HUMAN protein 1, mRNA 10WD ELP2
Chromatin assembly factor 1

16 CAF1B_HUMAN subunit B 5WD CHAF1B
17 ELP2_HUMAN 449 Elongator complex protein 2 12WD ELP2

to Homo sapiens excision
repair cross-complementing
rodent repair deficiency,
complementation group 8
(ERCC8), transcript variant 1,
18 A8K3W1_HUMAN mRNA 5wd40 ERCC8
19 CIAO1_HUMAN Protein CIAO1 7WD CIAO1

tethering
n-termini middle c-termini functions number
Regulation of transcription, DNA-

LisH 1 0 0 dependent,Transcription,Ubiquitin cycle 1
wd 0 1 7
transcription,transduction,regulation of
transcription,DNA dependent signal
transduction,multicellular organismal
development,organ morphogenesis,wnt receptor
signalling pathway,negative regulation of
transcription,negative regulation of wnt receptor
TLE_N 1 0 0 signalling pathway,regulation of transcription 1
WD 0 0 7
TLE_N 1 0 0 regulation of transcription 1
WD 0 0 6
transcription,transduction,regulation of
transcription,DNA dependent signal
transduction,multicellular organismal
development,organ morphogenesis,wnt receptor
signalling pathway,negative regulation of
transcription,negative regulation of wnt receptor
TLE_N 1 0 0 signalling pathway,regulation of transcription 1
WD 0 0 6
regulation of transcription, DNA-dependent

biological_process,Wnt receptor signaling
TLE_N 1 0 0 pathway,regulation of transcription 1
WD 0 0 6
regulation of transcription, DNA-
dependent,signal transduction,multicellular
organismal development,organ
TLE_N 1 0 0 morphogenesis,Wnt receptor signaling pathway 1
WD 0 1 5

dependent,signal transduction,organ
morphogenesis,Wnt receptor signaling
WD 0 0 6

dependent,signal transduction,organ
morphogenesis,,Wnt receptor signaling
WD 0 0 6

dependent,biological_process,Wnt receptor
TLE_N 1 0 0 signaling pathway,regulation of transcription 1
WD 0 0 6
transcription , regulation of transcription,

DNA-dependent , transcription from RNA
TFIID_90k polymerase II promoter , regulation of
Da 0 1 0 transcription 1
WD 0 0 1
DNA-dependent , transcription from RNA
TFIID_90k polymerase II promoter , regulation of
Da 0 1 0 transcription 1
WD 0 0 6

DNA-dependent , signal transduction ,
organ morphogenesis , Wnt receptor signaling
TLE_N 1 0 0 pathway , regulation of transcription 1
WD 0 0 7

WD 13 DNA-dependent , ubiquitin cycle 1
UTP13 1

WD 8 DNA-dependent , ubiquitin cycle 1
LiSH 1
regulation of transcription from RNA

polymerase II promoter, gastrulation,anatomical
structure morphogenesis,chromatin
WD 7 0 0 modification,regulation of transcription 2
HIRA_B 0 1 0
HIRA 0 0 1

DNA-dependent , transcription initiation from
RNA polymerase II promoter , chromatin
LISH 1 0 0 modification , regulation of transcription 2
TFIID_90k
Da 1 0 0
WD 0 0 6
regulation of transcription, DNA-dependent ,

ubiquitin cycle , intracellular signaling
WD 2 0 0 cascade , response to nutrient
SOCS 1 0 0 2
TUB 0 0 1
WD 0 0 6
WD 0 0 5 homoiothermy,response to freezing
CTLH 0 1 0 2
LisH 1 0 0
regulation of transcription, DNA-dependent,

ubiquitin cycle, intracellular signaling
WD 1 0 0 cascade,response to nutrient
SOCS 1 0 0
TUB 0 0 1 2
transcription,regulation of transcription, DNA-

dependent,regulation of transcription from RNA
BROMO 0 1 1 polymerase II promoter
WD 6 0 0 2
regulation of transcription, DNA-dependent,
protein amino acid phosphorylation,cell
adhesion,transmembrane receptor protein
HELP 1 0 0 tyrosine kinase signaling pathway
WD 1 0 0
Pkinase_Ty
r 0 0 1 2

polymerase II promoter,gastrulation,anatomical
structure morphogenesis,chromatin
wd 3 0 0 modification,regulation of transcription
HIRA_B 0 1 0
hira 0 0 1 2
activation of MAPKKK activity ,

DNA-dependent , ubiquitin cycle , apoptosis
, protein ubiquitination , regulation of
exocytosis , exocrine system development ,
regulation of apoptosis , positive regulation of
RING 1 0 0 MAPKKK cascade 2
zf-TRAF 0 1 0
WD 0 0 7
rregulation of transcription, DNA-dependent
transcription initiation from RNA polymerase II
promoter
chromatin modification
LISH 1 0 0 regulation of transcription 2
TFIID_90k
Da 1 0 0
regulation of transcription, DNA-dependent ,

ubiquitin cycle , intracellular signaling
SOCS 1 1 0 cascade , response to nutrient 2
TUB 0 0 1
WD 2 2 0
tethering
n-termini middle c-termini functions number
transcription , transcription, DNA-

dependent , 5S class rRNA transcription ,
tRNA transcription from RNA polymerase
4 III promoter 0
4 transcription 0
4 transcription 0
transcription,regulation of transcription from

RNA polymerase II promoter,transcription
1 initiation from RNA polymerase II promoter 0

DNA-dependent , transport , protein
0 2 2 transport , vesicle-mediated transport 0

polymerase II promoter,protein modification
process,proteolysis,ubiquitin-dependent
0 2 3 protein catabolic process,ubiquitin cycle 0

DNA replication , chromatin remodeling ,

DNA-dependent , cell cycle , negative
regulation of cell proliferation , chromatin
0 1 5 modification 0
DNA replication , transcription ,
, multicellular organismal development ,
0 1 5 cell proliferation , chromatin modification 0
DNA replication , transcription ,

, multicellular organismal development ,
0 1 5 cell proliferation , chromatin modification 0

0 2 4 Negative regulation of transcription 0
negative regulation of transcription from

RNA polymerase II promoter,mRNA
1 0 3 processing,RNA splicing 0

DNA-dependent , multicellular organismal
2 0 3 development 0
DNA-dependent , regulation of
transcription from RNA polymerase II
1 1 8 promoter 0
DNA replication , DNA repair , DNA

replication-dependent nucleosome
assembly , transcription , regulation of
transcription, DNA-dependent , protein
complex assembly , response to DNA
1 2 2 damage stimulus , cell cycle 0

DNA-dependent , regulation of
transcription from RNA polymerase II
1 2 9 promoter 0
protein polyubiquitination , transcription-
coupled nucleotide-excision repair ,
nucleotide-excision repair , transcription ,
dependent , response to DNA damage
stimulus , response to oxidative stress ,
sensory perception of sound , response
to UV , positive regulation of DNA repair ,
2 2 1 protein autoubiquitination 0

polymerase II promoter , positive
2 2 3 regulation of cell proliferation
tehtering number of
frequency process pdb id blades
cell organization,protein
2 metabolism 1ERJ 7
cell organization,cell
6 communication 1GXR 7
7 cell organization
21 cell organization
21 cell organization 1ERJ 7
23 metabolism 1ERJ 7
29 metabolism 1ERJ 7
44 cell organization 2I32
44 cell organization 2NXP

metabolism,cell
communication 2FIM
46
cell communication 2H14 7

51
communication 1C8Z/1I7E
51
cell organization 2OVR/1ERJ. 8 0r 7

51
No model
cell organization,cell found for this
communication sequence
52
No model
found for this
cell organization sequence
52
54 cell cycle 1ERJ 7

54 cell organization 1GXR 7
55 communication 1C8Z
tehtering
frequency process
0 cell organizatin
0 cell organizatin
0 cell organizatin
0 cell organization
0 cell organization
0 cell organization
0 cell organization
0 cell organization
0 cell organization 1GOT 7
0 cell organization 1GOT 7
0 cell organization 2h14 7
This
sequence has
not been
0 cell organization modeled
This
sequence has
not been
0 cell organization modeled
0 cell organization 1got 7
0 cell organization
0 cell organization
cell organization
pathway
wint signalling pathway

Estrogen receptor signaling pathway

Estrogen receptor signaling pathway
1.Ligand-Dependent Transcription of Retinoid-Target genes

Assembly of RNA Polymerase II preinitiation complex on TATA-less
promoters
The mutated gene responsible for the tubby obesity phenotype has been
identified by positional cloning. A single base change within a splice donor
site results in the incorrect retention of a single intron in the mature tub
mRNA transcript. The consequence of this mutation is the substitution of
the carboxy-terminal 44 amino acids with 24 intron-encoded amino acids.
The normal transcript appears to be abundantly expressed in the
hypothalamus, a region of the brain involved in body weight regulation.
Variation in the relative abundance of alternative splice products is
observed between inbred mouse strains and appears to correlate with an
intron length polymorphism.
No phenotype has yet been reported to our knowledge: this gene's in vivo
function is yet unknown.
This gene encodes a member of the WD repeat protein family. WD repeats

are minimally conserved regions of approximately 40 amino acids typically
bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation
of heterotrimeric or multiprotein complexes. Members of this family are
involved in a variety of cellular processes, including cell cycle progression,
signal transduction, apoptosis, and gene regulation. This protein contains 2
bromodomains and multiple WD repeats, and the function of this protein is
not known. This gene is located within the Down syndrome region-2 on
chromosome 21. Alternative splicing of this gene generates 3 transcript
variants diverging at the 3' ends.
Receptor tyrosine kinases (RTKs) play a key role in the communication of
cells with their microenvironment. These molecules are involved in the
regulation of cell growth, differentiation and metabolism. The protein
encoded by this gene is a RTK that is widely expressed in normal and
transformed epithelial cells and is activated by various types of collagen.
This protein belongs to a subfamily of tyrosine kinase receptors with a
homology region to the Dictyostelium discoideum protein discoidin I in their
extracellular domain. Its autophosphorylation is achieved by all collagens
so far tested (type I to type VI). In situ studies and Northern-blot analysis
showed that expression of this encoded protein is restricted to epithelial
cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In
addition, this protein is significantly over-expressed in several human
tumors from breast, ovarian, esophageal, and pediatric brain. This gene is
located on chromosome 6p21.3 in proximity to several HLA class I genes.
Alternative splicing of this gene results in multiple transcript variants.
Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors,

such as TRAF7, are signal transducers for members of the TNF receptor
superfamily (see MIM 191190). TRAFs are composed of an N-terminal
cysteine/histidine-rich region containing zinc RING and/or zinc finger
motifs; a coiled-coil (leucine zipper) motif; and a homologous region that
defines the TRAF family, the TRAF domain, which is involved in self-
association and receptor binding.[supplied by OMIM]
Ligand-Dependent Transcription of Retinoid-Target genes
Assembly of RNA Polymerase II preinitiation complex on TATA-less
promoters
Examination of GRG1 expression in human lung cancer tissues revealed GRG1
overexpression in a significant number of squamous cell carcinomas and
adenocarcinomas. Allen et al. (2006) concluded that GRG1 can act as an oncoprotein in
lung.

lung.
lung.
A number of pathologies resulting from incomplete cellular differentiation due to this

general inhibitory action during cell determination were shown to be the result of
alterations in Notch signaling, including both lymphoblastic and epithelial neoplasms. Liu
et al. (1996) studied the expression of individual TLE genes during epithelial
differentiation. By a combination of in situ hybridization and immunohistochemical
studies, they showed that TLE1 (600189), TLE2, and TLE3 (600190) are coexpressed
in a number of epithelial tissues. Moreover, they showed that the expression is elevated
in cervical squamous metaplasias and carcinomas.
A number of pathologies resulting from incomplete cellular differentiation due to this

general inhibitory action during cell determination were shown to be the result of
alterations in Notch signaling, including both lymphoblastic and epithelial neoplasms. Liu
et al. (1996) studied the expression of individual TLE genes during epithelial
differentiation. By a combination of in situ hybridization and immunohistochemical
studies, they showed that TLE1 (600189), TLE2, and TLE3 (600190) are coexpressed
in a number of epithelial tissues. Moreover, they showed that the expression is elevated
in cervical squamous metaplasias and carcinomas.
Functionally, the gene has been proposed to participate in a process (regulation of

transcription, DNA-dependent). Proteins are expected to localize in various
compartments (nucleus, mitochondrion). Putative protein interactors have been
described (PAX5, TLE4).
As genes associated with immune-mediated diseases have an increased prior

probability of being associated with other immune-mediated diseases, we tested three
such genes, IL23R, IRF5 and CD40, for an association with type 1 diabetes. In addition,
we tested seven genes, TAF5L, PDCD1, TCF7, IL12B, IL6, ICAM1 and TBX21, with
published marginal or inconsistent evidence of an association with type 1 diabetes
As genes associated with immune-mediated diseases have an increased prior
probability of being associated with other immune-mediated diseases, we tested three
such genes, IL23R, IRF5 and CD40, for an association with type 1 diabetes. In addition,
we tested seven genes, TAF5L, PDCD1, TCF7, IL12B, IL6, ICAM1 and TBX21, with
published marginal or inconsistent evidence of an association with type 1 diabetes
by homology modling
Functionally, the gene has been tested for association to diseases (Abnormalities,
Multiple; DiGeorge syndrome; Heart Defects, Congenital) and proposed to participate in
processes (regulation of transcription from RNA polymerase II promoter, gastrulation).
Proteins are expected to have molecular functions (transcription corepressor activity,
transcription factor activity, protein binding, transcription regulator activity) and to
localize in various compartments (nucleus, mitochondrion, nuclear chromatin). Putative
protein interactors have been described (ASF1A, CCNA2, H3F3B, HIRIP3, HIST2H2BE,
NFU1, PAX7, UPF1).
Initiation of transcription by RNA polymerase II requires the activities of more than 70

polypeptides. The protein that coordinates these activities is transcription factor IID
(TFIID), which binds to the core promoter to position the polymerase properly, serves as
the scaffold for assembly of the remainder of the transcription complex, and acts as a
channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP)
and a group of evolutionarily conserved proteins known as TBP-associated factors or
TAFs. TAFs may participate in basal transcription, serve as coactivators, function in
promoter recognition or modify general transcription factors (GTFs) to facilitate complex
assembly and transcription initiation. This gene encodes an integral subunit of TFIID
associated with all transcriptionally competent forms of that complex. This subunit
interacts strongly with two TFIID subunits that show similarity to histones H3 and H4,
and it may participate in forming a nucleosome-like core in the TFIID complex.
involved in the hypothalamic regulation of body weight

found to be overexpressed in breast carcinoma cells
may have E3 ubiquitin ligase activity ,potentiates MEKK3-induced AP1 and CHOP
activation,induces caspase-dependent apoptosis when overexpressed
Initiation of transcription by RNA polymerase II requires the activities of more than 70
polypeptides. The protein that coordinates these activities is transcription factor IID
(TFIID), which binds to the core promoter to position the polymerase properly, serves as
the scaffold for assembly of the remainder of the transcription complex, and acts as a
channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP)
and a group of evolutionarily conserved proteins known as TBP-associated factors or
TAFs. TAFs may participate in basal transcription, serve as coactivators, function in
promoter recognition or modify general transcription factors (GTFs) to facilitate complex
assembly and transcription initiation. This gene encodes an integral subunit of TFIID
associated with all transcriptionally competent forms of that complex. This subunit
interacts strongly with two TFIID subunits that show similarity to histones H3 and H4,
and it may participate in forming a nucleosome-like core in the TFIID complex.

The Wilms tumor suppressor protein, WT1, is a transcription factor capable of activating
or repressing transcription of various cellular genes. The mechanisms involved in
regulating the transcriptional activities of WT1 are beginning to be unraveled. It appears
that physical interactions of other cellular proteins (p53 and par-4) with WT1 can
modulate the function of WT1. Here, we report the identification and cloning of a novel
WT1-interacting protein termed Ciao 1, a member of the WD40 family of proteins. Ciao
1 specifically interacts with WT1 both in vitro and in vivo. This interaction alters the
mobility of a WT1.DNA complex in gel shift assays, and results in a decrease in
transcriptional activation mediated by WT1. Ciao 1 does not inhibit binding of WT1 to its
consensus nucleotide sequence and does not affect the repression activity of WT1.
Thus, Ciao 1 appears to specifically modulate the transactivation activity of WT1 and
may function to regulate the physiological functions of WT1 in cell growth and
differentiation.
unctionally, the gene has been proposed to participate in pathway
(Wnt signaling pathway) and processes (regulation of transcription,
DNA-dependent, ubiquitin cycle). Proteins are expected to localize in
various compartments (mitochondrion, nucleus).
Functionally, the gene has been tested for association to diseases

(Neoplasms; Sarcoma, synovial; Soft Tissue Neoplasms), proposed to
participate in a pathway (Wnt signaling pathway) and processes
(multicellular organismal development, negative regulation of
transcription, negative regulation of Wnt receptor signaling pathway,
organ morphogenesis, signal transduction, regulation of transcription,
DNA-dependent). Proteins are expected to have molecular function
(transcription factor binding) and to localize in nucleus. Putative
protein interactors have been described (CCNB1, CDC2, FOXA2,
FOXG1B, HES1, HES6, HHEX, HMGB1, IL6ST, LEF1 and 15 others).

Functionally, the gene has been proposed to participate in a process

(regulation of transcription, DNA-dependent). Proteins are expected to
localize in various compartments (nucleus, mitochondrion). Putative
protein interactors have been described (PAX5, TLE4).
Functionally, the gene has been tested for association to a disease

(Neoplasms) and proposed to participate in processes (organ
morphogenesis, signal transduction, regulation of transcription, DNA-
dependent). Proteins are expected to have molecular function (protein
binding) and to localize in nucleus. Putative protein interactors have
been described (H3F3A, PRDM1, RUNX1, TLE1, UTY).

(Neoplasms; Prostatic Neoplasms) and proposed to participate in
processes (organ morphogenesis, signal transduction, regulation of
transcription, DNA-dependent). Proteins are expected to localize in
various compartments (nucleus, cytoplasm, mitochondrion). Putative
protein interactors have been described (FOXG1B, SIX3, SIX4).

(regulation of transcription, DNA-dependent). Proteins are expected to
localize in various compartments (nucleus, mitochondrion). Putative
protein interactors have been described (PAX5, TLE4).

(Diabetes Mellitus, Type 1; Genetic Predisposition to Disease),
proposed to participate in pathway (Basal transcription factors) and
processes (transcription from RNA polymerase II promoter, regulation
of transcription, DNA-dependent). Proteins are expected to have
molecular functions (transcription factor activity, transcription regulator
activity) and to localize in various compartments (mitochondrion,
nucleus).
(Diabetes Mellitus, Type 1; Genetic Predisposition to Disease),
proposed to participate in pathway (Basal transcription factors) and
processes (transcription from RNA polymerase II promoter, regulation
of transcription, DNA-dependent). Proteins are expected to have
molecular functions (transcription factor activity, transcription regulator
activity) and to localize in various compartments (mitochondrion,
nucleus).

(Neoplasms; Prostatic Neoplasms) and proposed to participate in
processes (organ morphogenesis, signal transduction, regulation of
transcription, DNA-dependent). Proteins are expected to localize in
various compartments (nucleus, cytoplasm, mitochondrion). Putative
protein interactors have been described (FOXG1B, SIX3, SIX4).


22q11.21-q11.23
interacting with TFHD complex ,TATA box binding (TBP).may

participate in basal transcription, serve as coactivators, function in
promoter recognition or modify general transcription factors (GTFs) to
facilitate complex assembly and transcription initiation
(obesity) and proposed to participate in processes (regulation of
transcription, DNA-dependent, response to nutrient, intracellular
signaling cascade). Proteins are expected to have molecular function
(transcription factor activity) and to localize in cytoplasm.(from Ace
Veiw)

Veiw)

(Down syndrome) and proposed to participate in a process (regulation
of transcription from RNA polymerase II promoter). Proteins are
expected to have molecular functions (protein binding, transcription
regulator activity) and to localize in various compartments
(mitochondrion, nucleus). A putative protein interactor has been
described
(Breast Neoplasms; Pulmonary Fibrosis) and proposed to participate
in processes (cell adhesion, protein amino acid phosphorylation,
transmembrane receptor protein tyrosine kinase signaling pathway).
Proteins are expected to have molecular functions (transmembrane
receptor protein tyrosine kinase activity, ATP binding, nucleotide
binding, protein-tyrosine kinase activity and 5 others) and to localize in
various compartments (integral to plasma membrane, cytoplasm).
Putative protein interactors have been described (COL2A1, COL3A1,
COL5A2, COL11A1, DDR1, FRS2, PLCG1, SHC1).

(Abnormalities, Multiple; DiGeorge syndrome; Heart Defects,
Congenital) and proposed to participate in processes (regulation of
transcription from RNA polymerase II promoter, gastrulation). Proteins
are expected to have molecular functions (transcription corepressor
activity, transcription factor activity, protein binding, transcription
regulator activity) and to localize in various compartments (nucleus,
mitochondrion, nuclear chromatin). Putative protein interactors have
been described (ASF1A, CCNA2, H3F3B, HIRIP3, HIST2H2BE,
NFU1, PAX7, UPF1).
Functionally, the gene has been proposed to participate in pathway

(Tryptophan metabolism) and processes (activation of MAPKKK
activity, positive regulation of MAPKKK cascade, protein ubiquitination,
regulation of apoptosis, neurotransmitter secretion, regulation of
transcription, DNA-dependent). Proteins are expected to have
molecular functions (protein binding, ubiquitin-protein ligase activity,
zinc ion binding, calcium ion binding) and to localize in various
compartments (ubiquitin ligase complex, neuron projection,
perinuclear region of cytoplasm). Putative protein interactors have
been described (MAP3K3, TRAF7).
interacting with TFHD complex ,TATA box binding (TBP).may
participate in basal transcription, serve as coactivators, function in
promoter recognition or modify general transcription factors (GTFs) to
facilitate complex assembly and transcription initiation

Veiw)

(Glomerulonephritis; Nephrotic Syndrome) and proposed to participate
in a process (transcription from RNA polymerase III promoter).
Proteins are expected to have molecular functions (protein binding,
RNA polymerase III transcription factor activity) and to localize in
various compartments (cytoplasm, nucleus, transcription factor TFIIIC
complex). Putative protein interactors have been described (GTF3C4,
RB1).

(transcription). Proteins are expected to localize in various
compartments (nucleus, membrane).
(transcription). Proteins are expected to localize in various
compartments (nucleus, membrane).
Functionally, the gene has been proposed to participate in processes

(androgen receptor signaling pathway, regulation of transcription from
RNA polymerase II promoter, transcription initiation from RNA
polymerase II promoter). Proteins are expected to have molecular
functions (receptor activity, thyroid hormone receptor binding, thyroid
hormone receptor coactivator activity, transcription coactivator activity,
vitamin D receptor binding) and to localize in various compartments
(mediator complex, nucleus, cytoplasm). Putative protein interactors
have been described (IXL, MED9)
(regulation of transcription, DNA-dependent, ER to Golgi vesicle-
mediated transport, protein transport). Proteins are expected to have
molecular function (DNA binding) and to localize in various
compartments (nucleus, cytoplasm, endoplasmic reticulum, integral to
membrane).
(signal transduction). Proteins are expected to have molecular
functions (GTPase activity, signal transducer activity) and to localize in
various compartments (intracellular, cytoplasm, extracellular,
heterotrimeric G-protein complex). Putative protein interactors have
been described (CTBSandGNG5, GNG2, GNG3, GNG4, GNG7,
GNG13, GNGT1, RGS7, RGS9).
membrane).

(Abnormalities, Multiple; Breast Neoplasms; Carcinoma; Cell
Transformation, Neoplastic; Liver Neoplasms) and proposed to
participate in processes (chromatin remodeling, negative regulation of
cell proliferation, cell cycle, DNA replication, regulation of transcription,
DNA-dependent). Proteins are expected to have molecular functions
(DNA-dependent ATPase activity, protein binding) and to localize in
various compartments (nucleus, cytoplasm, NuRD complex). Putative
protein interactors have been described (AEBP2, BRCA1, CREBBP,
HDAC1, HDAC2, HDAC3, HIST2H2ACandBOLA1, HIST2H3C,
HIST2H4A, MBD2 and 10 others).
Transformation, Neoplastic) and proposed to participate in processes
(cell proliferation, multicellular organismal development, chromatin
modification, DNA replication, regulation of transcription, DNA-
binding) and to localize in various compartments (cytoplasm, nucleus).
Putative protein interactors have been described (BRCA1, MTA1,
RB1, SUV39H1, UQCRandMBD3).
Transformation, Neoplastic) and proposed to participate in processes
(cell proliferation, multicellular organismal development, chromatin
modification, DNA replication, regulation of transcription, DNA-
binding) and to localize in various compartments (cytoplasm, nucleus).
Putative protein interactors have been described (BRCA1, MTA1,
RB1, SUV39H1, UQCRandMBD3).
membrane).
Proteins are expected to have molecular functions (histone

methyltransferase activity, protein binding) and to localize in various
compartments (ESC/E(Z) complex, cytoplasm, nucleus). Putative
protein interactors have been described (AEBP2, ANXA5,
EZH1andCCR10, EZH2, HDAC1, HDAC2, HDAC3, ITGA4, ITGAE,
ITGB7, PPP1R8, SUZ12, TGS1, YY1).

(mRNA processing, negative regulation of transcription from RNA
polymerase II promoter, negative regulation of transforming growth
factor beta receptor signaling pathway, RNA splicing). Proteins are
expected to have molecular function (receptor binding) and to localize
in various compartments (nucleus, spliceosome). Putative protein
interactors have been described (PBLD, SMAD2, SMAD3, SMAD6,
SMAD7, STRAP, TGFBR1, TGFBR2).

(Craniofacial Abnormalities; Williams Syndrome; williams-beuren
syndrome; wbs), proposed to participate in pathway (Basal
transcription factors) and processes (regulation of transcription, DNA-
dependent, multicellular organismal development). Proteins are
expected to have molecular function (RNA polymerase II transcription
factor activity, enhancer binding) and to localize in nucleus. Putative
protein interactors have been described (EXOSC4, HDAC3, PIAS2).
(regulation of JAK-STAT cascade). Proteins are expected to have
molecular functions (protein binding, protein kinase binding) and to
localize in cytoplasm. Putative protein interactors have been described
(JAK2, SLC2A3P2andJAK1, STAT1, STAT3, STAT5B).

(Down syndrome) and proposed to participate in processes (DNA
replication-dependent nucleosome assembly, protein complex
assembly, cell cycle, DNA repair, regulation of transcription, DNA-
dependent). Proteins are expected to have molecular functions
(chromatin binding, histone binding, unfolded protein binding) and to
localize in various compartments (chromatin assembly complex,
cytoplasm, nucleus). Putative protein interactors have been described
(ASF1A, ASF1B, CDC2, CDK2, CHAF1A, HIST1H3E).
(regulation of JAK-STAT cascade). Proteins are expected to have
molecular functions (protein binding, protein kinase binding) and to
localize in cytoplasm. Putative protein interactors have been described
(JAK2, SLC2A3P2andJAK1, STAT1, STAT3, STAT5B).
(Cockayne Syndrome; cockayne syndrome, type a; csa) and proposed
to participate in processes (transcription-coupled nucleotide-excision
repair, regulation of transcription, DNA-dependent, sensory perception
of sound). Proteins are expected to have molecular functions (protein
binding, GTP binding) and to localize in various compartments
(nuclear matrix, nucleotide-excision repair complex, nucleus,
cytoplasm, intracellular). A putative protein interactor has been
described (XAB2).

(positive regulation of cell proliferation, regulation of transcription from
RNA polymerase II promoter). Proteins are expected to localize in
various compartments (cytoplasm, extracellular, nucleus). Putative
protein interactors have been described (CCDC7andC10orf68,
FAM96A, FAM96BandRRAD, WT1)
coexpressed with NOTCH implicating these
molecules in the maintenance of the
undifferentiated state in epithelial cells
coexpressed with NOTCH implicating these

molecules in the maintenance of the
undifferentiated state in epithelial cells
6q25.3
6q25.3
22q11.21-
q11.23
6q25.3
domain participate in
transcription number of proteins
CTLH 2
LisH 8
SOCS 7
TUB 3
BROMO 4
HELP 6
Pkinase_Tyr
HIRA_B 2
hira 2
RING 2
zf-TRAF
TFIID_90kDa 4
TLE_N 9
UTP13 2
51
domain
Uncharacterized 1TLE_N+6wd40
protein TLE1
cDNA FLJ76273,
1 highly similar to Homo TLE1
sapiens transducin-like
enhancer of split 1
(E(sp1) homolog,
Drosophila) (TLE1),
2 A8K495_HUMAN mRNA 1(TLE_N)+6wd40 TLE1
Transducin-like
3 TLE1_HUMAN enhancer protein 1 1TLE_N+6wd40 TLE1
Transducin-like
4 TLE2_HUMAN enhancer protein 2 1TLE_N+6wd40 TLE2
TAF5-like RNA
Transducin-like
5 TLE3_HUMAN polymerase
enhancer II, 3
protein 1TLE_N+2wd40 TLE3
p300/CBP-associated
factor (PCAF)-
associated factor, 1TFIID_90kDa+1
6 Q5TDI5_HUMAN 65kDa WD TAF5L
TAF5-like RNA
polymerase II,
p300/CBP-associated
factor (PCAF)-
associated factor, 1TFIID_90kDa+6
7 Q5TDI6_HUMAN 65kDa WD TAF5L
8 Q6PI57_HUMAN TLE3 protein TLE_N +7WD TLE3
7WD+1HIRA_B+1
9 HIRA_HUMAN Protein HIRA HIRA HIRA
2WD+SOCS
10 Q5T3M3_HUMAN Tubby like protein 4 _BOX+TUB TULP4
Q9NRJ4|
TULP4_HUMAN Tubby-related protein
12 716 4 1WD+SOCS+TUB TULP4
Q9NSI6| Bromodomain and WD
BRWD1_HUMAN repeat-containing
13 718 protein 1 6WD+2BROMO BRWD1
Tyrosine-protein 1HELP+1WD40+1
14 A6P4V4_HUMAN kinase receptor Pkinase_Tyr DDR1
cDNA FLJ78369,
highly similar to
H.sapiens HIRA 3(wd40)+1(HIRA_
15 A8K194_HUMAN mRNA B)+1(Hira) HIRA
2WD+1SOCS+2W
16 Q5T3M2_HUMAN Tubby like protein 4 D+1SOCS+TUB TULP4
Functionally, the gene has been tested for association to
diseases (Neoplasms; Sarcoma, synovial; Soft Tissue
Neoplasms)

Neoplasms)
Neoplasms),
Functionally, the gene has been tested for association to a
disease (Neoplasms)
diseases (Neoplasms; Prostatic Neoplasms)

diseases (Diabetes Mellitus, Type 1; Genetic Predisposition to
Disease)

diseases (Diabetes Mellitus, Type 1; Genetic Predisposition to
Disease),
diseases (Neoplasms; Prostatic Neoplasms)
diseases (Abnormalities, Multiple; DiGeorge syndrome; Heart
Defects, Congenital)
disease (obesity)

disease (obesity)

disease (Down syndrome)
diseases (Breast Neoplasms; Pulmonary Fibrosis)

diseases (Abnormalities, Multiple; DiGeorge syndrome; Heart 22q11.21-
Defects, Congenital) q11.23
disease (obesity)

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transcription regulatory

1 A1L4B3_HUMAN Transducin (Beta)-like 1Y-linked TBL1Y

Uncharacterized protein TLE1 1TLE_N+6wd40

3 A6NIY7_HUMAN Uncharacterized protein TLE4 TLE_N+6wd40 TLE4

cDNA FLJ76273, highly similar

5 A8MSP9_HUMAN Uncharacterized protein TLE4 1(TLE_N)+6wd40 TLE4

Transducin-like enhancer protein

Transducin-like enhancer protein

Transducin-like enhancer protein

TAF5-like RNA polymerase II,

12 Q6PI57_HUMAN TLE3 protein TLE_N +7WD TLE3

cDNA FLJ78369, highly similar

E3 ubiquitin-protein ligase 1RING+1zf-

Periodic tryptophan protein 1

MED16_HUMAN Mediator of RNA polymerase II

cDNA FLJ77763, highly similar

7 Q05DB2_HUMAN PREB protein 4WD PREB

Q5JNZ9_HUMAN Retinoblastoma binding

STRAP_HUMAN Serine-threonine kinase

cDNA FLJ75510, highly similar

Chromatin assembly factor 1

17 ELP2_HUMAN 449 Elongator complex protein 2 12WD ELP2

cDNA FLJ78558, highly similar

19 CIAO1_HUMAN Protein CIAO1 7WD CIAO1

Regulation of transcription, DNA-

regulation of transcription, DNA-dependent

regulation of transcription, DNA-

regulation of transcription, DNA-

regulation of transcription, DNA-

transcription , regulation of transcription,

transcription , regulation of transcription,

transcription , regulation of transcription,

transcription , regulation of transcription,

regulation of transcription from RNA

transcription , regulation of transcription,

regulation of transcription, DNA-dependent ,

regulation of transcription, DNA-dependent,

transcription,regulation of transcription, DNA-

regulation of transcription from RNA

activation of MAPKKK activity ,

regulation of transcription, DNA-dependent ,

transcription , transcription, DNA-

transcription,regulation of transcription from

transcription , regulation of transcription,

regulation of transcription from RNA

transcription , regulation of transcription,

DNA replication , chromatin remodeling ,

DNA replication , transcription ,

transcription , regulation of transcription,

0 2 4 Negative regulation of transcription 0

negative regulation of transcription from

transcription , regulation of transcription,

DNA replication , DNA repair , DNA

transcription , regulation of transcription,

regulation of transcription from RNA

44 cell organization 2I32

44 cell organization 2NXP

cell communication 2H14 7

cell organization 2OVR/1ERJ. 8 0r 7

54 cell cycle 1ERJ 7

0 cell organization 1GOT 7

0 cell organization 1ERJ 7

0 cell organization 1ERJ 7

0 cell organization 2h14 7