SLURP1
entrez
57152
canonical
uniprot
P55000
canonical
ensembl
ENSG00000126233
resolver
ensp
ENSP00000246515
resolver
enst
ENST00000246515
resolver
genesymbol
SLURP1
resolver
genesymbol_syn
ARS
resolver
hgnc
HGNC:18746
resolver
uniprot
Q53YJ6
resolver
uniprot
Q6PUA6
resolver
uniprot
Q92483
resolver
uniprot_entry
SLUR1_HUMAN
resolver
uniprot_sec
Q53YJ6
resolver
uniprot_sec
Q6PUA6
resolver
uniprot_sec
Q92483
resolver
amino_acid_sequence
MASRWAVQLLLVAAWSMGCGEALKCYTCKEPMTSASCRTITRCKPEDTACMTTLVTVEAEYPFNQSPVVTRSCSSSCVATDPDSIGAAHLIFCCFRDLCNSEL
uniprot
proteins
disease_involvement
DISEASE: Mal de Meleda (MDM) [MIM:248300]: A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. {ECO:0000269|PubMed:11285253, ECO:0000269|PubMed:12483299, ECO:0000269|PubMed:12950349, ECO:0000269|PubMed:14756676, ECO:0000269|PubMed:17008884, ECO:0000269|PubMed:19120323, ECO:0000269|PubMed:21690549, ECO:0000269|PubMed:24604124, ECO:0000269|PubMed:25919322}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:14506129, PubMed:26905431). In T cells may be involved in regulation of intracellular Ca(2+) signaling (PubMed:17286989). Seems to have an immunomodulatory function in the cornea (By similarity). The function may implicate a possible role as a scavenger receptor for PLAU thereby blocking PLAU-dependent functions of PLAUR such as in cell migration and proliferation (PubMed:25168896). {ECO:0000250|UniProtKB:Q9Z0K7, ECO:0000269|PubMed:14506129, ECO:0000269|PubMed:17286989, ECO:0000269|PubMed:26905431, ECO:0000269|PubMed:8742060, ECO:0000305|PubMed:14721776, ECO:0000305|PubMed:17008884}.
uniprot
proteins
mass_dalton
11186
uniprot
proteins
pubmed
10211827
uniprot
proteins
pubmed
11285253
uniprot
proteins
pubmed
12483299
uniprot
proteins
pubmed
12950349
uniprot
proteins
pubmed
14506129
uniprot
proteins
pubmed
14721776
uniprot
proteins
pubmed
14756676
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16354194
uniprot
proteins
pubmed
17008884
uniprot
proteins
pubmed
17286989
uniprot
proteins
pubmed
19120323
uniprot
proteins
pubmed
20621062
uniprot
proteins
pubmed
21690549
uniprot
proteins
pubmed
23581991
uniprot
proteins
pubmed
24604124
uniprot
proteins
pubmed
25168896
uniprot
proteins
pubmed
25919322
uniprot
proteins
pubmed
26905431
uniprot
proteins
pubmed
33019770
uniprot
proteins
pubmed
8742060
uniprot
proteins
sequence_length
103
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14506129, ECO:0000269|PubMed:25919322, ECO:0000269|PubMed:26905431}.
uniprot
proteins