COL17A1
entrez
1308
canonical
uniprot
Q9UMD9
canonical
ensembl
ENSG00000065618
resolver
ensp
ENSP00000497653
resolver
genesymbol
COL17A1
resolver
genesymbol_syn
BP180
resolver
genesymbol_syn
BPAG2
resolver
hgnc
HGNC:2194
resolver
uniprot
Q02802
resolver
uniprot
Q5JV36
resolver
uniprot
Q99018
resolver
uniprot
Q9NQK9
resolver
uniprot
Q9UC14
resolver
uniprot_entry
COHA1_HUMAN
resolver
uniprot_sec
Q02802
resolver
uniprot_sec
Q5JV36
resolver
uniprot_sec
Q99018
resolver
uniprot_sec
Q9NQK9
resolver
uniprot_sec
Q9UC14
resolver
amino_acid_sequence
MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHGSSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPEYPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSSNTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWSSTLPAGSSMGTYHNNMTTQSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVFGMQNNLAPSLTTLSHGTTTTSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNTPAKKEMELLIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTTTADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGLHSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPGPQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERGAAGEPGPHGPPGVPGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDKGPMGPPGPKGDQGEKGPRGLTGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPGPSGDPGKPGLTGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGPAGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNSETFLSGPPGPPGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQGPKGDKGDPGVPGALGIPSGPSEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISEYMQSDSIRSYLSGVQGPPGPPGPPGPVTTITGETFDYSELASHVVSYLRTSGYGVSLFSSSISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDGSLLSLDYAELSSRILSYMSSSGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGSLGAGGAFGEAAGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRVSESMQRQGLLQGMAYTVQGPPGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPPGQKGEMGTPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa, junctional 4, intermediate (JEB4) [MIM:619787]: 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. JEB4 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. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. {ECO:0000269|PubMed:10652291, ECO:0000269|PubMed:10951237, ECO:0000269|PubMed:11912005, ECO:0000269|PubMed:8669466, ECO:0000269|PubMed:9199555}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]: A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. {ECO:0000269|PubMed:25676728}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.; FUNCTION: The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.
uniprot
proteins
mass_dalton
150419
uniprot
proteins
post_translational_modification
PTM: The intracellular/endo domain is disulfide-linked.; PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.; PTM: The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544. {ECO:0000269|PubMed:9748270}.
uniprot
proteins
pubmed
10637308
uniprot
proteins
pubmed
10652291
uniprot
proteins
pubmed
10951237
uniprot
proteins
pubmed
11912005
uniprot
proteins
pubmed
12356719
uniprot
proteins
pubmed
12482924
uniprot
proteins
pubmed
1324962
uniprot
proteins
pubmed
14675210
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1748679
uniprot
proteins
pubmed
17545155
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25676728
uniprot
proteins
pubmed
8618013
uniprot
proteins
pubmed
8618014
uniprot
proteins
pubmed
8669466
uniprot
proteins
pubmed
9012408
uniprot
proteins
pubmed
9199555
uniprot
proteins
pubmed
9506436
uniprot
proteins
pubmed
9748270
uniprot
proteins
sequence_length
1497
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.; SUBCELLULAR LOCATION: [120 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.; SUBCELLULAR LOCATION: [97 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.
uniprot
proteins
transmembrane_region
TRANSMEM 468..488; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins