InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ITGB4

Summary

InnateDB Protein

IDBP-763071.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ITGB4

Protein Name

Synonyms

CD104;

Species

Homo sapiens

Ensembl Protein

ENSP00000463651

InnateDB Gene

IDBG-68784 (ITGB4)

Protein Structure

UniProt Annotation

Function

Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. {ECO:0000269PubMed:12482924, ECO:0000269PubMed:19403692}.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes.

Disease Associations

Epidermolysis bullosa letalis, with pyloric atresia (EB- PA) [MIM:226730]: An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. {ECO:0000269PubMed:10873890, ECO:0000269PubMed:11251584, ECO:0000269PubMed:11328943, ECO:0000269PubMed:9422533, ECO:0000269PubMed:9546354, ECO:0000269PubMed:9792864, ECO:0000269PubMed:9892956}. Note=The disease is caused by mutations affecting the gene represented in this entry.Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269PubMed:10792571}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.

Experimentally validated
Total	28 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001664	G-protein coupled receptor binding
GO:0004872	receptor activity
GO:0005515	protein binding

Biological Process

GO:0006914	autophagy
GO:0007154	cell communication
GO:0007155	cell adhesion
GO:0007160	cell-matrix adhesion
GO:0007229	integrin-mediated signaling pathway
GO:0007275	multicellular organismal development
GO:0009611	response to wounding
GO:0030198	extracellular matrix organization
GO:0031581	hemidesmosome assembly
GO:0034329	cell junction assembly
GO:0048870	cell motility

Cellular Component

GO:0005886	plasma membrane
GO:0008305	integrin complex
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030056	hemidesmosome
GO:0031252	cell leading edge
GO:0043235	receptor complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002035 von Willebrand factor, type A
IPR002369 Integrin beta subunit, N-terminal
IPR003644 Na-Ca exchanger/integrin-beta4
IPR003961 Fibronectin, type III
IPR012013 Integrin beta-4 subunit
IPR012896 Integrin beta subunit, tail
IPR013111 EGF-like domain, extracellular
IPR015812 Integrin beta subunit
IPR016201 Plexin-like fold

PFAM