Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7041
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TGFB1I1   Gene   UCSC   Ensembl
Aliases ARA55, HIC-5, HIC5, TSC-5
Gene name transforming growth factor beta 1 induced transcript 1
Alternate names transforming growth factor beta-1-induced transcript 1 protein, androgen receptor coactivator 55 kDa protein, androgen receptor coactivator ARA55, androgen receptor-associated protein of 55 kDa, hydrogen peroxide-inducible clone 5 protein, hydrogen peroxide-in,
Gene location 16p11.2 (31472154: 31477959)     Exons: 13     NC_000016.10
Gene summary(Entrez) This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
OMIM 602353

Protein Summary

Protein general information O43294  

Name: Transforming growth factor beta 1 induced transcript 1 protein (Androgen receptor coactivator 55 kDa protein) (Androgen receptor associated protein of 55 kDa) (Hydrogen peroxide inducible clone 5 protein) (Hic 5)

Length: 461  Mass: 49,814

Tissue specificity: Expressed in platelets, smooth muscle and prostate stromal cells (at protein level). {ECO

Sequence MEDLDALLSDLETTTSHMPRSGAPKERPAEPLTPPPSYGHQPQTGSGESSGASGDKDHLYSTVCKPRSPKPAAPA
APPFSSSSGVLGTGLCELDRLLQELNATQFNITDEIMSQFPSSKVASGEQKEDQSEDKKRPSLPSSPSPGLPKAS
ATSATLELDRLMASLSDFRVQNHLPASGPTQPPVVSSTNEGSPSPPEPTGKGSLDTMLGLLQSDLSRRGVPTQAK
GLCGSCNKPIAGQVVTALGRAWHPEHFVCGGCSTALGGSSFFEKDGAPFCPECYFERFSPRCGFCNQPIRHKMVT
ALGTHWHPEHFCCVSCGEPFGDEGFHEREGRPYCRRDFLQLFAPRCQGCQGPILDNYISALSALWHPDCFVCREC
FAPFSGGSFFEHEGRPLCENHFHARRGSLCATCGLPVTGRCVSALGRRFHPDHFTCTFCLRPLTKGSFQERAGKP
YCQPCFLKLFG
Structural information
Protein Domains
LIM (226-285)
LIM (286-343)
LIM (344-403)
LIM (404-461)

Motifs
LD motif(3-15)
LD motif(92-104)
LD motif(157-168)
LD motif(203-215)
Interpro:  IPR017305 IPR001781
Prosite:   PS00478 PS50023

Pfam:  
PF00412

DIP:  
5931
MINT:   243624
STRING:   ENSP00000378332;
Other Databases GeneCards:  TGFB1I1;  Malacards:  TGFB1I1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006366 transcription from RNA po
lymerase II promoter
TAS biological_process
GO:0007155 cell adhesion
TAS biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0009408 response to heat
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016331 morphogenesis of embryoni
c epithelium
IEA biological_process
GO:0016363 nuclear matrix
IEA cellular_component
GO:0030511 positive regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030579 ubiquitin-dependent SMAD
protein catabolic process
IDA biological_process
GO:0030855 epithelial cell different
iation
IEA biological_process
GO:0045165 cell fate commitment
IEA biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0048495 Roundabout binding
IPI molecular_function
GO:0050681 androgen receptor binding
IPI molecular_function
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0031012 extracellular matrix
IDA cellular_component
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0005925 focal adhesion
IEA cellular_component
GO:0005925 focal adhesion
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006366 transcription from RNA po
lymerase II promoter
TAS biological_process
GO:0007155 cell adhesion
TAS biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0009408 response to heat
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016331 morphogenesis of embryoni
c epithelium
IEA biological_process
GO:0016363 nuclear matrix
IEA cellular_component
GO:0030054 cell junction
IEA cellular_component
GO:0030154 cell differentiation
IEA biological_process
GO:0030511 positive regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030579 ubiquitin-dependent SMAD
protein catabolic process
IDA biological_process
GO:0030855 epithelial cell different
iation
IEA biological_process
GO:0045165 cell fate commitment
IEA biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048495 Roundabout binding
IPI molecular_function
GO:0050681 androgen receptor binding
IPI molecular_function
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0070411 I-SMAD binding
IEA molecular_function
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0031012 extracellular matrix
IDA cellular_component
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006366 transcription from RNA po
lymerase II promoter
TAS biological_process
GO:0007155 cell adhesion
TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0030511 positive regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030579 ubiquitin-dependent SMAD
protein catabolic process
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0048495 Roundabout binding
IPI molecular_function
GO:0050681 androgen receptor binding
IPI molecular_function
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0031012 extracellular matrix
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 19389829

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19389829 Endometrio
sis

59 (29 women wi
th endometriosi
s, 30 women wit
hout endometrio
sis)

Show abstract