TAG for ITGB4

Gene content

Symbol

ITGB4 ( by HUGO)

Name

Integrin, Beta 4

Category

Other

Alias

Integrin
Beta 4
GP150
CD104 Antigen
CD104
Integrin Beta-4
Integrin Beta-4 Subunit

Cytogenetic band

NCBI: 17q25 Ensembl: 17q25.1

Protein information

ITB4_HUMAN

Size: 1822 amino acids

Mass: 202167 Da

Subunit: Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1 Sequence caution: Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1; Type=Frameshift; Positions=1414, 1429; Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for ITGB4 (see all 8): 1QG3 (3D) [IMAGE] 2YRZ (3D) [IMAGE] 3F7P (3D) [IMAGE] 3F7Q (3D) [IMAGE] 3F7R (3D) [IMAGE] 3FQ4 (3D) [IMAGE]

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 [IMAGE] Pathway & Disease-focused RT2 Profi

Function:

UniProtKB/Swiss-Prot Summary: ITB4_HUMAN, P16144 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

Similarity:

Belongs to the integrin beta chain family

Contains 1 Calx-beta domain

Contains 4 fibronectin type-III domains

Contains 1 PSI domain

Contains 1 VWFA domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR002035	VWF_A	von Willebrand factor, type A	Domain
	IPR002369	Integrin_bsu_N	Integrin, beta chain N-terminal	Domain
	IPR003644	Calx_beta	Na-Ca exchanger/integrin-beta4	Domain
	IPR003961	Fibronectin_type3	Fibronectin, type III	Domain
	IPR012013	Integrin_bsu-4	Integrin, beta-4 subunit	Family
	IPR012896	Integrin_bsu_tail	Integrin beta tail	Domain
	IPR013032	EGF-like_CS	EGF-like region	Domain
	IPR013111	EGF_extracell	EGF, extracellular	Domain
Blocks	IPB001169	Integrin beta	Integrin beta, C-terminal
Blocks	IPB003962	Fibronectin type III repeat signature	Fibronectin type III repeat signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cell adhesion	NAS	GOA	2311577
	cell motility	IMP	GOA	19403692
	hemidesmosome assembly	IDA	GOA	12482924
	response to wounding	IDA	GOA	19403692
Cellular Component	cell leading edge	IDA	GOA	19403692
	cell surface	IDA	GOA	19933311
	extracellular vesicular exosome	IDA	GOA	19199708
	hemidesmosome	IDA	GOA	12482924
Molecular Function	protein binding	IPI	GOA	11375975

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

ITGB4 cross reference