ADAM17
entrez
6868
canonical
uniprot
P78536
canonical
ensembl
ENSG00000151694
resolver
ensp
ENSP00000309968
resolver
genesymbol
ADAM17
resolver
genesymbol_syn
ADAM18
resolver
genesymbol_syn
CSVP
resolver
genesymbol_syn
TACE
resolver
hgnc
HGNC:195
resolver
uniprot
B2RNB2
resolver
uniprot
O60226
resolver
uniprot_entry
ADA17_HUMAN
resolver
uniprot_entry
B2RNB2_HUMAN
resolver
uniprot_sec
O60226
resolver
amino_acid_sequence
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERFSQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEPLWRFVNDTKDKRMLVYKSEDIKNVSRLQSPKVCGYLKVDNEELLPKGLVDREPPEELVHRVKRRADPDPMKNTCKLLVVADHRFYRYMGRGEESTTTNYLIELIDRVDDIYRNTSWDNAGFKGYGIQIEQIRILKSPQEVKPGEKHYNMAKSYPNEEKDAWDVKMLLEQFSFDIAEEASKVCLAHLFTYQDFDMGTLGLAYVGSPRANSHGGVCPKAYYSPVGKKNIYLNSGLTSTKNYGKTILTKEADLVTTHELGHNFGAEHDPDGLAECAPNEDQGGKYVMYPIAVSGDHENNKMFSNCSKQSIYKTIESKAQECFQERSNKVCGNSRVDEGEECDPGIMYLNNDTCCNSDCTLKEGVQCSDRNSPCCKNCQFETAQKKCQEAINATCKGVSYCTGNSSECPPPGNAEDDTVCLDLGKCKDGKCIPFCEREQQLESCACNETDNSCKVCCRDLSGRCVPYVDAEQKNLFLRKGKPCTVGFCDMNGKCEKRVQDVIERFWDFIDQLSINTFGKFLADNIVGSVLVFSLIFWIPFSILVHCVDKKLDKQYESLSLFHPSNVEMLSSMDSASVRIIKPFPAPQTPGRLQPAPVIPSAPAAPKLDHQRMDTIQEDPSTDSHMDEDGFEKDPFPNSSTAAKSFEDLTDHPVTRSEKAASFKLQRQNRVDSKETEC
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 16 (HYPT16) [MIM:621490]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT16 is an autosomal dominant, generalized form characterized by fragile, thin and woolly scalp hair, and patchy hair loss on other parts of the body. Slow growth results in complete hair loss later in life, although female patients may have only scalp affected. {ECO:0000269|PubMed:38771644}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Inflammatory skin and bowel disease, neonatal, 1 (NISBD1) [MIM:614328]: A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. {ECO:0000269|PubMed:22010916}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.86
uniprot
proteins
function
FUNCTION: Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity (PubMed:24226769, PubMed:24227843, PubMed:28060820, PubMed:28923481, PubMed:38771644). Cleaves the membrane-bound precursor of TNF to its mature soluble form (PubMed:36078095, PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769, PubMed:38771644). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). Mediates the proteolytic cleavage and shedding of FCGR3A upon NK cell stimulation, a mechanism that allows for increased NK cell motility and detachment from opsonized target cells. Cleaves TREM2, resulting in shedding of the TREM2 ectodomain (PubMed:28923481). {ECO:0000250|UniProtKB:Q9Z0F8, ECO:0000269|PubMed:12441351, ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:24337742, ECO:0000269|PubMed:26876177, ECO:0000269|PubMed:28060820, ECO:0000269|PubMed:28923481, ECO:0000269|PubMed:36078095, ECO:0000269|PubMed:38771644, ECO:0000269|PubMed:9034191}.
uniprot
proteins
mass_dalton
93021
uniprot
proteins
post_translational_modification
PTM: The precursor is cleaved by a furin endopeptidase. {ECO:0000250}.; PTM: Phosphorylated. Stimulation by growth factor or phorbol 12-myristate 13-acetate induces phosphorylation of Ser-819 but decreases phosphorylation of Ser-791. Phosphorylation at Thr-735 by MAPK14 is required for ADAM17-mediated ectodomain shedding. {ECO:0000269|PubMed:12058067, ECO:0000269|PubMed:12621058, ECO:0000269|PubMed:20188673}.; PTM: Ubiquitinated by the E3 ligase TRIM47 leading to proteasomal degradation. {ECO:0000269|PubMed:38771644}.
uniprot
proteins
pubmed
12058067
uniprot
proteins
pubmed
12441351
uniprot
proteins
pubmed
12621058
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20188673
uniprot
proteins
pubmed
20592283
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22010916
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24226769
uniprot
proteins
pubmed
24227843
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24337742
uniprot
proteins
pubmed
26876177
uniprot
proteins
pubmed
28060820
uniprot
proteins
pubmed
28923481
uniprot
proteins
pubmed
29897333
uniprot
proteins
pubmed
29897336
uniprot
proteins
pubmed
36078095
uniprot
proteins
pubmed
38771644
uniprot
proteins
pubmed
9034190
uniprot
proteins
pubmed
9034191
uniprot
proteins
pubmed
9520379
uniprot
proteins
pubmed
9574564
uniprot
proteins
sequence_length
824
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:36078095}; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 672..692; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins