Gene Symbol |
COL17A1
|
Entrez Gene |
1308
|
Alt Symbol |
BA16H23.2, BP180, BPA-2, BPAG2, LAD-1
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
collagen, type XVII, alpha 1
|
Other Description |
180 kDa bullous pemphigoid antigen 2|alpha 1 type XVII collagen|bA16H23.2 (collagen, type XVII, alpha 1 (BP180))|bullous pemphigoid antigen 2 (180kD)|collagen XVII, alpha-1 polypeptide|collagen alpha-1(XVII) chain|type XVII collagen alpha-1
|
Swissprots |
Q9NQK9 Q9UC14 Q9UMD9 Q99018 Q5JV36 Q02802
|
Accessions |
AAB51499 EAW49612 EAW49613 EAW49614 Q9UMD9 AB900157 BAO31681 AF136185 AF136186 AK309940 AU076442 BC004478 AAH04478 BC168368 AAI68368 D63465 M63730 AAA51839 M91669 AAA35605 NM_000494 NP_000485 NM_130778
|
Function |
May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
|
Subcellular Location |
97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.
|
Tissue Specificity |
Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves. {ECO:0000269|PubMed:1748679, ECO:0000269|PubMed:8618013}.
|
Top Pathways |
Protein digestion and absorption
|