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ITGB4 integrin subunit beta 4 [ Homo sapiens (human) ]

Gene ID: 3691, updated on 29-Mar-2020

Summary

Official Symbol
ITGB4provided by HGNC
Official Full Name
integrin subunit beta 4provided by HGNC
Primary source
HGNC:HGNC:6158
See related
Ensembl:ENSG00000132470 MIM:147557
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
CD104; GP150
Summary
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in stomach (RPKM 27.7), skin (RPKM 23.3) and 19 other tissues See more
Orthologs

Genomic context

See ITGB4 in Genome Data Viewer
Location:
17q25.1
Exon count:
43
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75721339..75757819)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73717516..73753899)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RecQ like helicase 5 Neighboring gene uncharacterized LOC107985013 Neighboring gene SAP30 binding protein Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene galactokinase 1 Neighboring gene H3.3 histone B

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat A monoclonal antibody to beta 4 integrin inhibited cellular attachment of HIV-1 Tat by over 90%, suggesting an interaction between Tat and the beta 4 integrin subunit in cell attachment to Tat PubMed
retropepsin gag-pol Beta4 integrin and alpha3 integrin are cleaved by the HIV-1 protease in human embryonic fibroblasts PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to insulin-like growth factor I binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to neuregulin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell adhesion mediated by integrin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemidesmosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
nail development IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to wounding IDA
Inferred from Direct Assay
more info
PubMed 
skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
integrin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin complex IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
integrin beta-4
Names
CD104 antigen

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007372.1 RefSeqGene

    Range
    5024..41384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000213.5NP_000204.3  integrin beta-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000204.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC087749, AI318403, CA391583, X51841, X52186, X53587
    Consensus CDS
    CCDS11727.1
    UniProtKB/Swiss-Prot
    P16144
    UniProtKB/TrEMBL
    A0A024R8T0
    Related
    ENSP00000200181.3, ENST00000200181.8
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15291611
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  2. NM_001005619.1NP_001005619.1  integrin beta-4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001005619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in one place but has an additional in-frame exon in another place, as compared to variant 1. The encoded isoform 2 thus differs in two regions, as compared to isoform 1.
    Source sequence(s)
    AI318403, X51841, X52186, X53587
    Consensus CDS
    CCDS32736.1
    UniProtKB/Swiss-Prot
    P16144
    Related
    ENSP00000400217.2, ENST00000449880.6
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15121594
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  3. NM_001005731.3NP_001005731.1  integrin beta-4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001005731.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AI318403, CA391583, X51841, X52186, X53587
    Consensus CDS
    CCDS58599.1
    UniProtKB/Swiss-Prot
    P16144
    UniProtKB/TrEMBL
    A0A024R8K7
    Related
    ENSP00000405536.3, ENST00000450894.7
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:14591541
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  4. NM_001321123.2NP_001308052.1  integrin beta-4 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    BC143742, CA391583, X51841, X52186
    Consensus CDS
    CCDS58599.1
    UniProtKB/Swiss-Prot
    P16144
    UniProtKB/TrEMBL
    A0A024R8K7, B7ZLD8
    Related
    ENSP00000463651.1, ENST00000579662.5
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:14591541
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    75721339..75757819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257311.4XP_005257368.1  integrin beta-4 isoform X2

    See identical proteins and their annotated locations for XP_005257368.1

    UniProtKB/TrEMBL
    A0A024R8N2
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15821664
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  2. XM_005257309.2XP_005257366.1  integrin beta-4 isoform X2

    See identical proteins and their annotated locations for XP_005257366.1

    UniProtKB/TrEMBL
    A0A024R8N2
    Conserved Domains (6) summary
    cd00063
    Location:12201313
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15821664
    fn3; Fibronectin type III domain
    pfam00362
    Location:37453
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626709
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  3. XM_006721866.3XP_006721929.1  integrin beta-4 isoform X1

    Conserved Domains (6) summary
    cd00063
    Location:12551348
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:16171699
    fn3; Fibronectin type III domain
    pfam00362
    Location:72488
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661744
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  4. XM_011524751.2XP_011523053.1  integrin beta-4 isoform X5

    Conserved Domains (6) summary
    cd00063
    Location:12551348
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:16271712
    fn3; Fibronectin type III domain
    pfam00362
    Location:72488
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661744
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  5. XM_006721867.3XP_006721930.1  integrin beta-4 isoform X3

    Conserved Domains (6) summary
    cd00063
    Location:12551348
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15641646
    fn3; Fibronectin type III domain
    pfam00362
    Location:72488
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661744
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  6. XM_006721868.3XP_006721931.1  integrin beta-4 isoform X4

    Conserved Domains (6) summary
    cd00063
    Location:12551348
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:15471629
    fn3; Fibronectin type III domain
    pfam00362
    Location:72488
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661744
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  7. XM_006721870.3XP_006721933.1  integrin beta-4 isoform X6

    Conserved Domains (6) summary
    cd00063
    Location:12551348
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:14941576
    fn3; Fibronectin type III domain
    pfam00362
    Location:72488
    Integrin_beta; Integrin, beta chain
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661744
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  8. XM_011524752.2XP_011523054.1  integrin beta-4 isoform X7

    Conserved Domains (3) summary
    cd00063
    Location:535628
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:897979
    fn3; Fibronectin type III domain
    pfam03160
    Location:305399
    Calx-beta; Calx-beta domain
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