TGFB1I1 transforming growth factor beta 1 induced transcript 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGFB1I1provided by HGNC
Official Full Name: transforming growth factor beta 1 induced transcript 1provided by HGNC
Primary source: HGNC:HGNC:11767
See related: Ensembl:ENSG00000140682 MIM:602353; AllianceGenome:HGNC:11767
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HIC5; ARA55; HIC-5; TSC-5
Summary: 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]
Expression: Broad expression in endometrium (RPKM 51.3), prostate (RPKM 29.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31472152..31477960)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31859540..31865348)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31483473..31489281)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGFB1I1 promotes cell proliferation and migration in urothelial carcinoma.
Title: TGFB1I1 promotes cell proliferation and migration in urothelial carcinoma.
Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
Title: Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
Paxillin family of focal adhesion adaptor proteins and regulation of cancer cell invasion.
Title: Paxillin family of focal adhesion adaptor proteins and regulation of cancer cell invasion.
Exosome-mediated Hic-5 regulates proliferation and apoptosis of osteosarcoma via Wnt/beta-catenin signal pathway.
Title: Exosome-mediated Hic-5 regulates proliferation and apoptosis of osteosarcoma via Wnt/β-catenin signal pathway.
TGFbeta1I1 suppressed cell migration and invasion in colorectal cancer by inhibiting the TGF-beta pathway and EMT progress.
Title: TGFβ1I1 suppressed cell migration and invasion in colorectal cancer by inhibiting the TGF-β pathway and EMT progress.
Increased expression of the transforming growth factor beta-inducible gene HIC-5 in systemic sclerosis skin and fibroblasts: a novel antifibrotic therapeutic target.
Title: Increased expression of the transforming growth factor β-inducible gene HIC-5 in systemic sclerosis skin and fibroblasts: a novel antifibrotic therapeutic target.
HIC-5 in cancer-associated fibroblasts contributes to esophageal squamous cell carcinoma progression.
Title: HIC-5 in cancer-associated fibroblasts contributes to esophageal squamous cell carcinoma progression.
Results reveal novel regulation of vimentin organization/dynamics by the FA scaffold protein Hic-5 via modulation of RhoGTPases and downstream formin activity.
Title: The focal adhesion scaffold protein Hic-5 regulates vimentin organization in fibroblasts.
The molecular mechanism involved in Hic-5-mediated invasion.
Title: Hic-5 in pancreatic stellate cells affects proliferation, apoptosis, migration, invasion of pancreatic cancer cells and postoperative survival time of pancreatic cancer.
HIC-5 regulates mitochondrial ROS production in tumor cells while requiring activated KRAS to mediate its effect on NOX4 in oncogene-induced senescence and tumor invasiveness.
Title: A mitochondrial ROS pathway controls matrix metalloproteinase 9 levels and invasive properties in RAS-activated cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables I-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables Roundabout binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear androgen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of embryonic epithelium	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transforming growth factor beta-1-induced transcript 1 protein

Names: 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-inducible clone-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042454.3 → NP_001035919.1 transforming growth factor beta-1-induced transcript 1 protein isoform 1

See identical proteins and their annotated locations for NP_001035919.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AC026471, AK313327

Consensus CDS

CCDS42156.1

UniProtKB/Swiss-Prot

B2R8D5, O43294, Q9BPW3, Q9Y2V5

Related

ENSP00000378332.3, ENST00000394863.8

Conserved Domains (5) summary

cd09337
Location:287 → 338

LIM2_Paxillin_like; The second LIM domain of the paxillin like protein family

cd09409
Location:346 → 398

LIM3_Paxillin; The third LIM domain of paxillin

cd09412
Location:405 → 456

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:228 → 280

LIM1_Paxillin_like; The first LIM domain of the paxillin like protein family

pfam03535
Location:86 → 106

Paxillin; Paxillin family
NM_001164719.1 → NP_001158191.1 transforming growth factor beta-1-induced transcript 1 protein isoform 2

See identical proteins and their annotated locations for NP_001158191.1

Status: REVIEWED

Source sequence(s)

AA992124, AC026471, BC017288

Consensus CDS

CCDS10713.1

Related

ENSP00000355117.3, ENST00000361773.7

Conserved Domains (5) summary

cd09337
Location:270 → 321

LIM2_Paxillin_like; The second LIM domain of the paxillin like protein family

cd09409
Location:329 → 381

LIM3_Paxillin; The third LIM domain of paxillin

cd09412
Location:388 → 439

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:211 → 263

LIM1_Paxillin_like; The first LIM domain of the paxillin like protein family

pfam03535
Location:69 → 89

Paxillin; Paxillin family
NM_015927.5 → NP_057011.2 transforming growth factor beta-1-induced transcript 1 protein isoform 2

See identical proteins and their annotated locations for NP_057011.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC026471, BC001830

Consensus CDS

CCDS10713.1

Related

ENSP00000378327.2, ENST00000394858.6

Conserved Domains (5) summary

cd09337
Location:270 → 321

LIM2_Paxillin_like; The second LIM domain of the paxillin like protein family

cd09409
Location:329 → 381

LIM3_Paxillin; The third LIM domain of paxillin

cd09412
Location:388 → 439

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:211 → 263

LIM1_Paxillin_like; The first LIM domain of the paxillin like protein family

pfam03535
Location:69 → 89

Paxillin; Paxillin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31472152..31477960

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450412.2 → XP_024306180.1 transforming growth factor beta-1-induced transcript 1 protein isoform X1

Conserved Domains (5) summary

cd09337
Location:270 → 321

LIM2_Paxillin_like; The second LIM domain of the paxillin like protein family

cd09409
Location:329 → 381

LIM3_Paxillin; The third LIM domain of paxillin

cd09412
Location:388 → 439

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:211 → 263

LIM1_Paxillin_like; The first LIM domain of the paxillin like protein family

pfam03535
Location:69 → 89

Paxillin; Paxillin family