GPNMB
entrez
10457
canonical
uniprot
Q14956
canonical
ensembl
ENSG00000136235
resolver
ensp
ENSP00000258733
resolver
ensp
ENSP00000371420
resolver
ensp
ENSP00000386476
resolver
ensp
ENSP00000766062
resolver
ensp
ENSP00000790763
resolver
enst
ENST00000409458
resolver
genesymbol
GPNMB
resolver
genesymbol_syn
HGFIN
resolver
genesymbol_syn
NMB
resolver
hgnc
HGNC:4462
resolver
uniprot
A4D155
resolver
uniprot
F6UJV1
resolver
uniprot
Q6UVX1
resolver
uniprot
Q8N1A1
resolver
uniprot
Q96F58
resolver
uniprot_entry
F6UJV1_HUMAN
resolver
uniprot_entry
GPNMB_HUMAN
resolver
uniprot_entry
Q96F58_HUMAN
resolver
uniprot_sec
A4D155
resolver
uniprot_sec
Q6UVX1
resolver
uniprot_sec
Q8N1A1
resolver
amino_acid_sequence
MECLYYFLGFLLLAARLPLDAAKRFHDVLGNERPSAYMREHNQLNGWSSDENDWNEKLYPVWKRGDMRWKNSWKGGRVQAVLTSDSPALVGSNITFAVNLIFPRCQKEDANGNIVYEKNCRNEAGLSADPYVYNWTAWSEDSDGENGTGQSHHNVFPDGKPFPHHPGWRRWNFIYVFHTLGQYFQKLGRCSVRVSVNTANVTLGPQLMEVTVYRRHGRAYVPIAQVKDVYVVTDQIPVFVTMFQKNDRNSSDETFLKDLPIMFDVLIHDPSHFLNYSTINYKWSFGDNTGLFVSTNHTVNHTYVLNGTFSLNLTVKAAAPGPCPPPPPPPRPSKPTPSLATTLKSYDSNTPGPAGDNPLELSRIPDENCQINRYGHFQATITIVEGILEVNIIQMTDVLMPVPWPESSLIDFVVTCQGSIPTEVCTIISDPTCEITQNTVCSPVDVDEMCLLTVRRTFNGSGTYCVNLTLGDDTSLALTSTLISVPDRDPASPLRMANSALISVGCLAIFVTVISLLVYKKHKEYNPIENSPGNVVRSKGLSVFLNRAKAVFFPGNQEKDPLLKNQEFKGVS
uniprot
proteins
disease_involvement
DISEASE: Note=Increased expression levels in glioblastoma multiforme biopsy samples correlate with poor patient survival prognosis (PubMed:16609006). Has been proposed as a potential target for antibodies coupled to cytotoxic drugs in the context of cancer immunotherapy, including that of melanoma (PubMed:16489096). {ECO:0000269|PubMed:16489096, ECO:0000269|PubMed:16609006}.; DISEASE: Amyloidosis, primary localized cutaneous, 3 (PLCA3) [MIM:617920]: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive. {ECO:0000269|PubMed:29336782}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Could be a melanogenic enzyme. {ECO:0000250}.
uniprot
proteins
mass_dalton
63923
uniprot
proteins
protein_family
PMEL/NMB family
uniprot
proteins
pubmed
12609765
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16489096
uniprot
proteins
pubmed
16609006
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29336782
uniprot
proteins
pubmed
7814155
uniprot
proteins
sequence_length
572
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:16489096, ECO:0000269|PubMed:16609006}. Melanosome membrane {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}; Single-pass type I membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:29336782}; Single-pass type I membrane protein {ECO:0000305}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 499..519; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins