ITGA6
entrez
3655
canonical
uniprot
P23229
canonical
ensembl
ENSG00000091409
resolver
ensp
ENSP00000264107
resolver
ensp
ENSP00000386614
resolver
ensp
ENSP00000386896
resolver
ensp
ENSP00000406694
resolver
ensp
ENSP00000508249
resolver
ensp
ENSP00000520448
resolver
ensp
ENSP00000664257
resolver
enst
ENST00000264107
resolver
enst
ENST00000715295
resolver
genesymbol
ITGA6
resolver
hgnc
HGNC:6142
resolver
uniprot
A0A8C8KBL6
resolver
uniprot
A0AAQ5BID9
resolver
uniprot
B2RMU9
resolver
uniprot
B4DG69
resolver
uniprot
B4DKB8
resolver
uniprot
C4AM96
resolver
uniprot
G5E9H1
resolver
uniprot
Q08443
resolver
uniprot
Q0MRC7
resolver
uniprot
Q14646
resolver
uniprot
Q16508
resolver
uniprot
Q53RX7
resolver
uniprot
Q59HB7
resolver
uniprot
Q86VL6
resolver
uniprot
Q9UCT1
resolver
uniprot
Q9UN03
resolver
uniprot_entry
A0A8C8KBL6_HUMAN
resolver
uniprot_entry
A0AAQ5BID9_HUMAN
resolver
uniprot_entry
ITA6_HUMAN
resolver
uniprot_sec
B2RMU9
resolver
uniprot_sec
B4DG69
resolver
uniprot_sec
B4DKB8
resolver
uniprot_sec
C4AM96
resolver
uniprot_sec
G5E9H1
resolver
uniprot_sec
Q08443
resolver
uniprot_sec
Q0MRC7
resolver
uniprot_sec
Q14646
resolver
uniprot_sec
Q16508
resolver
uniprot_sec
Q53RX7
resolver
uniprot_sec
Q59HB7
resolver
uniprot_sec
Q86VL6
resolver
uniprot_sec
Q9UCT1
resolver
uniprot_sec
Q9UN03
resolver
amino_acid_sequence
MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFGFSLAMHWQLQPEDKRLLLVGAPRAEALPLQRANRTGGLYSCDITARGPCTRIEFDNDADPTSESKEDQWMGVTVQSQGPGGKVVTCAHRYEKRQHVNTKQESRDIFGRCYVLSQNLRIEDDMDGGDWSFCDGRLRGHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQKNNTFFDMNIFEDGPYEVGGETEHDESLVPVPANSYLGLLFLTSVSYTDPDQFVYKTRPPREQPDTFPDVMMNSYLGFSLDSGKGIVSKDEITFVSGAPRANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVAVVDLNKDGWQDIVIGAPQYFDRDGEVGGAVYVYMNQQGRWNNVKPIRLNGTKDSMFGIAVKNIGDINQDGYPDIAVGAPYDDLGKVFIYHGSANGINTKPTQVLKGISPYFGYSIAGNMDLDRNSYPDVAVGSLSDSVTIFRSRPVINIQKTITVTPNRIDLRQKTACGAPSGICLQVKSCFEYTANPAGYNPSISIVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKVCMEETLWLQDNIRDKLRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHFLKEGCGDDNVCNSNLKLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNSPSNPRNPTKDGDDAHEAKLIATFPDTLTYSAYRELRAFPEKQLSCVANQNGSQADCELGNPFKRNSNVTFYLVLSTTEVTFDTPDLDINLKLETTSNQDNLAPITAKAKVVIELLLSVSGVAKPSQVYFGGTVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISNGKWLLYLVKVESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAERKYQTLNCSVNVNCVNIRCPLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDVTAAAENIRLPNAGTQVRVTVFPSKTVAQYSGVPWWIILVAILAGILMLALLVFILWKCGFFKRSRYDDSVPRYHAVRIRKEEREIKDEKYIDNLEKKQWITKWNENESYS
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa, junctional 6, with pyloric atresia (JEB6) [MIM:619817]: 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. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. {ECO:0000269|PubMed:27607025, ECO:0000269|PubMed:9185503}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). 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:0000250|UniProtKB:Q61739, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760, ECO:0000269|PubMed:28873464}.
uniprot
proteins
mass_dalton
126606
uniprot
proteins
post_translational_modification
PTM: Isoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation. Phosphorylation occurs on 'Ser-1103' of isoform alpha-6X1X2A. Phosphorylation is not required for the induction of integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand.; PTM: Undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner to produce processed integrin alpha-6 (alpha6p) (PubMed:11359780, PubMed:15023541, PubMed:17303120). Production of alpha6p enhances prostate cancer cell invasion and migration (PubMed:17303120). {ECO:0000269|PubMed:11359780, ECO:0000269|PubMed:15023541, ECO:0000269|PubMed:17303120}.; PTM: Palmitoylation by DHHC3 enhances stability and cell surface expression. {ECO:0000269|PubMed:15611341, ECO:0000269|PubMed:22314500}.
uniprot
proteins
protein_family
Integrin alpha chain family
uniprot
proteins
pubmed
11359780
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1476731
uniprot
proteins
pubmed
15023541
uniprot
proteins
pubmed
15466886
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15557282
uniprot
proteins
pubmed
15611341
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16754960
uniprot
proteins
pubmed
17303120
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1946438
uniprot
proteins
pubmed
1953640
uniprot
proteins
pubmed
1976638
uniprot
proteins
pubmed
20682778
uniprot
proteins
pubmed
2070796
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22314500
uniprot
proteins
pubmed
22351760
uniprot
proteins
pubmed
2542022
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2649503
uniprot
proteins
pubmed
27607025
uniprot
proteins
pubmed
28873464
uniprot
proteins
pubmed
7583007
uniprot
proteins
pubmed
7681434
uniprot
proteins
pubmed
8253814
uniprot
proteins
pubmed
8360143
uniprot
proteins
pubmed
8496190
uniprot
proteins
pubmed
9185503
uniprot
proteins
sequence_length
1130
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22314500}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:22314500}; Lipid-anchor {ECO:0000269|PubMed:22314500}.
uniprot
proteins
transmembrane_region
TRANSMEM 1051..1076; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins