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HUMAN:PMEL

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) PMEL (synonyms: D12S53E, PMEL17, SILV)
Protein Name(s) Melanocyte protein PMEL

ME20-M ME20M Melanocyte protein Pmel 17 Melanocytes lineage-specific antigen GP100 Melanoma-associated ME20 antigen P1 P100 Premelanosome protein Silver locus protein homolog M-alpha 95 kDa melanocyte-specific secreted glycoprotein P26 Secreted melanoma-associated ME20 antigen ME20-S ME20S M-beta

External Links
UniProt P40967
EMBL M77348
U01874
S73003
U31799
U31808
U31807
U31797
U31798
U20093
U19491
M32295
BT007202
AK092881
AK300150
AC025162
CH471054
BC001414
CCDS CCDS55833.1
CCDS55834.1
CCDS8897.1
PIR A41234
I38400
RefSeq NP_001186982.1
NP_001186983.1
NP_008859.1
XP_006719632.1
UniGene Hs.95972
PDB 1TVB
1TVH
3CC5
4IS6
PDBsum 1TVB
1TVH
3CC5
4IS6
ProteinModelPortal P40967
SMR P40967
DIP DIP-48937N
MINT MINT-4723252
PhosphoSite P40967
DMDM 2507099
PaxDb P40967
PRIDE P40967
DNASU 6490
Ensembl ENST00000449260
ENST00000548493
ENST00000548747
ENST00000550464
ENST00000552882
GeneID 6490
KEGG hsa:6490
UCSC uc001sip.3
uc001siq.3
uc010spx.2
CTD 6490
GeneCards GC12M056352
HGNC HGNC:10880
HPA HPA001337
MIM 155550
neXtProt NX_P40967
PharmGKB PA35781
eggNOG NOG39434
GeneTree ENSGT00530000063573
HOVERGEN HBG099694
InParanoid P40967
KO K17304
OMA IYRRRLM
OrthoDB EOG7DFXBP
PhylomeDB P40967
TreeFam TF334865
ChiTaRS PMEL
EvolutionaryTrace P40967
GeneWiki PMEL_(gene)
GenomeRNAi 6490
NextBio 25221
PRO PR:P40967
Proteomes UP000005640
Bgee P40967
CleanEx HS_SILV
ExpressionAtlas P40967
Genevestigator P40967
GO GO:0005789
GO:0005576
GO:0005794
GO:0016021
GO:0042470
GO:0032585
GO:0005886
GO:0042438
GO:0032438
Gene3D 2.60.40.670
InterPro IPR022409
IPR000601
Pfam PF00801
SMART SM00089
SUPFAM SSF49299
PROSITE PS50093

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0042470

melanosome

PMID:15695812[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0042470

melanosome

PMID:15096515[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0032585

multivesicular body membrane

PMID:11694580[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0032438

melanosome organization

PMID:11694580[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

PMID:15695812[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

PMID:15695812[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0042470

melanosome

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:98301
PANTHER:PTN000221144
UniProtKB:P40967
UniProtKB:Q98917

C

Seeded From UniProt

complete

involved_in

GO:0032438

melanosome organization

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000221144
UniProtKB:P40967

P

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1934765
PANTHER:PTN000933229

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:19666488[5]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P40967

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:21106765[6]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P40967-2

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:8179825[7]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0042438

melanin biosynthetic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0470

P

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0964
UniProtKB-SubCell:SL-0243

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0256

C

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0333
UniProtKB-SubCell:SL-0132

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0005768

endosome

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0967

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0005771

multivesicular body

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0174

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0097

C

Seeded From UniProt

complete

part_of

GO:0042470

melanosome

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0161

C

Seeded From UniProt

complete

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Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Hoashi, T et al. (2005) MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. J. Biol. Chem. 280 14006-16 PubMed GONUTS page
  2. ↑ Yasumoto, K et al. (2004) Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. J. Biol. Chem. 279 28330-8 PubMed GONUTS page
  3. ↑ 3.0 3.1 Berson, JF et al. (2001) Pmel17 initiates premelanosome morphogenesis within multivesicular bodies. Mol. Biol. Cell 12 3451-64 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  5. ↑ McGlinchey, RP et al. (2009) The repeat domain of the melanosome fibril protein Pmel17 forms the amyloid core promoting melanin synthesis. Proc. Natl. Acad. Sci. U.S.A. 106 13731-6 PubMed GONUTS page
  6. ↑ Pfefferkorn, CM et al. (2010) Effects of pH on aggregation kinetics of the repeat domain of a functional amyloid, Pmel17. Proc. Natl. Acad. Sci. U.S.A. 107 21447-52 PubMed GONUTS page
  7. ↑ Maresh, GA et al. (1994) Cloning and expression of the gene for the melanoma-associated ME20 antigen. DNA Cell Biol. 13 87-95 PubMed GONUTS page
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