• Gene id: 7041

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 (31472151: 31477959)     Exons: 14     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
• OMIM: 602353

SNPs

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

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: 49814
  • 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: (226..28-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (286..34-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (344..40-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO-)
  • Interpro: IPR017305  IPR001781  
  • Prosite: PS00478 PS50023
  • DIP: 5931
  • STRING: ENSP00000378332
• Other Databases: GeneCards:  TGFB1I1  Malacards:  TGFB1I1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043542	endothelial cell migration	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0034446	substrate adhesion-dependent cell spreading	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0070411	I-SMAD binding	IEA	molecular function
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0016331	morphogenesis of embryonic epithelium	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0070411	I-SMAD binding	IPI	molecular function
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0030579	ubiquitin-dependent SMAD protein catabolic process	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0050681	androgen receptor binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0048495	Roundabout binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R