ITGB4
entrez
3691
canonical
uniprot
P16144
canonical
ensembl
ENSG00000132470
resolver
ensp
ENSP00000200181
resolver
ensp
ENSP00000400217
resolver
ensp
ENSP00000405536
resolver
ensp
ENSP00000463651
resolver
ensp
ENSP00000534088
resolver
ensp
ENSP00000534089
resolver
ensp
ENSP00000534099
resolver
ensp
ENSP00000618851
resolver
genesymbol
ITGB4
resolver
hgnc
HGNC:6158
resolver
uniprot
A0AVL6
resolver
uniprot
B7ZLD8
resolver
uniprot
O14690
resolver
uniprot
O14691
resolver
uniprot
O15339
resolver
uniprot
O15340
resolver
uniprot
O15341
resolver
uniprot
Q0VF97
resolver
uniprot
Q9UIQ4
resolver
uniprot_entry
B7ZLD8_HUMAN
resolver
uniprot_entry
ITB4_HUMAN
resolver
uniprot_sec
A0AVL6
resolver
uniprot_sec
O14690
resolver
uniprot_sec
O14691
resolver
uniprot_sec
O15339
resolver
uniprot_sec
O15340
resolver
uniprot_sec
O15341
resolver
uniprot_sec
Q0VF97
resolver
uniprot_sec
Q9UIQ4
resolver
amino_acid_sequence
MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRRCNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYRTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGRCHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEFVSRTLTTSGTLSTHMDQQFFQT
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa, junctional 5A, intermediate (JEB5A) [MIM:619816]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB5A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. {ECO:0000269|PubMed:10792571, ECO:0000269|PubMed:12485428}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB5B is an autosomal recessive, severe, frequently lethal form 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:0000269|PubMed:10873890, ECO:0000269|PubMed:11251584, ECO:0000269|PubMed:11328943, ECO:0000269|PubMed:9422533, ECO:0000269|PubMed:9546354, ECO:0000269|PubMed:9792864, ECO:0000269|PubMed:9892956}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760, ECO:0000269|PubMed:28873464}.
uniprot
proteins
mass_dalton
202167
uniprot
proteins
post_translational_modification
PTM: Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins. {ECO:0000269|PubMed:15611341, ECO:0000269|PubMed:22314500}.
uniprot
proteins
protein_family
Integrin beta chain family
uniprot
proteins
pubmed
10428948
uniprot
proteins
pubmed
10637308
uniprot
proteins
pubmed
10792571
uniprot
proteins
pubmed
10873890
uniprot
proteins
pubmed
11251584
uniprot
proteins
pubmed
11289717
uniprot
proteins
pubmed
11328943
uniprot
proteins
pubmed
11375975
uniprot
proteins
pubmed
12482924
uniprot
proteins
pubmed
12485428
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15611341
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19403692
uniprot
proteins
pubmed
1976638
uniprot
proteins
pubmed
20682778
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22314500
uniprot
proteins
pubmed
22351760
uniprot
proteins
pubmed
2311577
uniprot
proteins
pubmed
2311578
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2542022
uniprot
proteins
pubmed
28873464
uniprot
proteins
pubmed
29672603
uniprot
proteins
pubmed
30361615
uniprot
proteins
pubmed
7982032
uniprot
proteins
pubmed
9166594
uniprot
proteins
pubmed
9194858
uniprot
proteins
pubmed
9207246
uniprot
proteins
pubmed
9422533
uniprot
proteins
pubmed
9546354
uniprot
proteins
pubmed
9792864
uniprot
proteins
pubmed
9892956
uniprot
proteins
sequence_length
1822
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome {ECO:0000269|PubMed:29672603}. Note=Colocalizes with DST at the leading edge of migrating keratinocytes.
uniprot
proteins
transmembrane_region
TRANSMEM 711..733; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins