Tgfb1i1 transforming growth factor beta 1 induced transcript 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgfb1i1provided by MGI
Official Full Name: transforming growth factor beta 1 induced transcript 1provided by MGI
Primary source: MGI:MGI:102784
See related: Ensembl:ENSMUSG00000030782 AllianceGenome:MGI:102784
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hic5; ARA55; TSC-5; hic-5
Summary: Predicted to enable several functions, including I-SMAD binding activity; Roundabout binding activity; and androgen receptor binding activity. Acts upstream of or within several processes, including epithelial cell differentiation; morphogenesis of embryonic epithelium; and negative regulation of fat cell differentiation. Located in focal adhesion. Is expressed in several structures, including bronchus; central nervous system; genitourinary system; heart; and vertebral axis musculature. Orthologous to human TGFB1I1 (transforming growth factor beta 1 induced transcript 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bladder adult (RPKM 38.4), ovary adult (RPKM 25.8) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 70.07 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127845963..127852884)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (128246812..128255699)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hic-5 regulates extracellular matrix-associated gene expression and cytokine secretion in cancer associated fibroblasts.
Title: Hic-5 regulates extracellular matrix-associated gene expression and cytokine secretion in cancer associated fibroblasts.
Hic-5 deficiency protects cerulein-induced chronic pancreatitis via down-regulation of the NF-kappaB (p65)/IL-6 signalling pathway.
Title: Hic-5 deficiency protects cerulein-induced chronic pancreatitis via down-regulation of the NF-κB (p65)/IL-6 signalling pathway.
Hic-5 is required for activation of pancreatic stellate cells and development of pancreatic fibrosis in chronic pancreatitis.
Title: Hic-5 is required for activation of pancreatic stellate cells and development of pancreatic fibrosis in chronic pancreatitis.
Alleviation of murine osteoarthritis by deletion of the focal adhesion mechanosensitive adapter, Hic-5.
Title: Alleviation of murine osteoarthritis by deletion of the focal adhesion mechanosensitive adapter, Hic-5.
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.
Hic-5 plays role in orchestrating the organization of invadopodia into higher-order rosettes in fibroblasts transformed by the proto-oncogene Src. Critical Hic-5 motifs as well as phosphorylation sites that are required for the formation and dynamics of rosettes were identified. FAK kinase activity, along with its proximity to and potential interaction with the LD2,3 motifs of Hic-5, is necessary for rosette formation.
Title: Hic-5 regulates Src-induced invadopodia rosette formation and organization.
High HIC5 expression is associated with tumorigenesis of colorectal cancer.
Title: The impact of stromal Hic-5 on the tumorigenesis of colorectal cancer through lysyl oxidase induction and stromal remodeling.
Together, the authors show the antagonistic regulation of the alpha-enhancer activity by Pax6 and the LIM protein complex is necessary for the establishment of an inner retinal circuitry, which controls visual adaptation.
Title: The LIM protein complex establishes a retinal circuitry of visual adaptation by regulating Pax6 α-enhancer activity.
Isolated Hic-5(-/-);PyMT CAFs were defective in stress fiber organization and exhibited reduced contractility. These cells also failed to efficiently deposit and organize the ECM in two and three dimensions. This, in turn, impacted three-dimensional MDA-MB-231 tumor cell migration behavior
Title: Hic-5 remodeling of the stromal matrix promotes breast tumor progression.
paxillin and Hic-5 have both redundant and distinctive functions in invadosome formation.
Title: Roles of paxillin family members in adhesion and ECM degradation coupling at invadosomes.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW049683 (e-PCR)
- UniSTS:164367

ha3094 (e-PCR)
- UniSTS:515644

Tgfb1i1 (e-PCR), detects polymorphism
- UniSTS:166205

RH135620 (e-PCR)
- UniSTS:209823

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables I-SMAD binding	ISO Inferred from Sequence Orthology more info
enables Roundabout binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear androgen receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate commitment	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of fat cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within morphogenesis of embryonic epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of fat cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleus	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: TGF beta-stimulated clone 5; androgen receptor-associated protein of 55 kDa; hydrogen peroxide-inducible clone 5 protein

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_001289550.2 → NP_001276479.1 transforming growth factor beta-1-induced transcript 1 protein isoform a

See identical proteins and their annotated locations for NP_001276479.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AC124566

Consensus CDS

CCDS21893.2

UniProtKB/Swiss-Prot

Q3YBY7, Q3YBY8, Q3YBZ0, Q3YBZ1, Q3YBZ3, Q3YBZ4, Q3YBZ5, Q3YBZ6, Q62219

UniProtKB/TrEMBL

E9Q1D5

Related

ENSMUSP00000132100.2, ENSMUST00000167965.8

Conserved Domains (5) summary

cd09337
Location:287 → 338

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

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:41 → 157

Paxillin; Paxillin family

cl02475
Location:346 → 398

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001289551.2 → NP_001276480.1 transforming growth factor beta-1-induced transcript 1 protein isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC124566

Conserved Domains (2) summary

pfam03535
Location:41 → 144

Paxillin; Paxillin family

pfam07793
Location:90 → 213

DUF1631; Protein of unknown function (DUF1631)
NM_001289552.2 → NP_001276481.1 transforming growth factor beta-1-induced transcript 1 protein isoform c

See identical proteins and their annotated locations for NP_001276481.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, resulting in translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC124566

UniProtKB/TrEMBL

E9Q1D5

Conserved Domains (4) summary

cd09337
Location:202 → 253

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

cd09412
Location:320 → 371

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:143 → 195

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

cl02475
Location:261 → 313

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001289553.2 → NP_001276482.1 transforming growth factor beta-1-induced transcript 1 protein isoform d

See identical proteins and their annotated locations for NP_001276482.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the 5' region, resulting in translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Variants 4, 9, and 10 all encode the same isoform (d).

Source sequence(s)

AC124566

Consensus CDS

CCDS80812.1

UniProtKB/TrEMBL

E9Q1D5

Conserved Domains (4) summary

cd09337
Location:176 → 227

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

cd09412
Location:294 → 345

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

COG5373
Location:1 → 98

COG5373; Uncharacterized membrane protein [Function unknown]

cl02475
Location:117 → 169

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001417328.1 → NP_001404257.1 transforming growth factor beta-1-induced transcript 1 protein isoform e

Status: VALIDATED

Source sequence(s)

AC124566

Related

ENSMUST00000163553.8
NM_001417329.1 → NP_001404258.1 transforming growth factor beta-1-induced transcript 1 protein isoform f

Status: VALIDATED

Source sequence(s)

AC124566

Related

ENSMUSP00000127695.2, ENSMUST00000165667.8
NM_001417330.1 → NP_001404259.1 transforming growth factor beta-1-induced transcript 1 protein isoform g

Status: VALIDATED

Source sequence(s)

AC124566
NM_001417331.1 → NP_001404260.1 transforming growth factor beta-1-induced transcript 1 protein isoform h

Status: VALIDATED

Source sequence(s)

AC124566

Related

ENSMUST00000166755.8
NM_001417332.1 → NP_001404261.1 transforming growth factor beta-1-induced transcript 1 protein isoform d

Status: VALIDATED

Source sequence(s)

AC124566
NM_001417333.1 → NP_001404262.1 transforming growth factor beta-1-induced transcript 1 protein isoform d

Status: VALIDATED

Source sequence(s)

AC124566

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

127845963..127852884

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152884.1 → XP_036008777.1 transforming growth factor beta-1-induced transcript 1 protein isoform X1

Related

ENSMUSP00000130964.2, ENSMUST00000164710.8

Conserved Domains (5) summary

cd09337
Location:322 → 373

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

cd09412
Location:440 → 491

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:263 → 315

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

pfam03535
Location:4 → 128

Paxillin; Paxillin family

cl02475
Location:381 → 433

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
XM_011241728.3 → XP_011240030.1 transforming growth factor beta-1-induced transcript 1 protein isoform X3

UniProtKB/TrEMBL

E9Q1D5

Conserved Domains (5) summary

cd09337
Location:261 → 312

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

cd09412
Location:379 → 430

LIM4_Leupaxin; The fourth LIM domain of Leupaxin

cd09336
Location:202 → 254

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

cl02475
Location:320 → 372

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

pfam03535
Location:42 → 67

Paxillin; Paxillin family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_009365.2: Suppressed sequence

Description

NM_009365.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.