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PMEL beta [melanosome membrane]
Stable Identifier
R-HSA-9856034
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
melanosome membrane
Synonyms
Melanocyte protein PMEL, PMEL_HUMAN
Locations in the PathwayBrowser
Expand all
Developmental Biology (Homo sapiens)
MITF-M-regulated melanocyte development (Homo sapiens)
MITF-M-dependent gene expression (Homo sapiens)
Regulation of MITF-M-dependent genes involved in pigmentation (Homo sapiens)
MITF-M-dependent PMEL gene expression (Homo sapiens)
PMEL alpha:PMEL beta [melanosome membrane] (Homo sapiens)
PMEL beta [melanosome membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P40967 PMEL
Gene Names
PMEL, D12S53E, PMEL17, SILV
Chain
signal peptide:1-24, chain:25-661, chain:25-467, chain:470-661
Reference Genes
BioGPS Gene:6490 PMEL
COSMIC (genes):PMEL PMEL
CTD Gene:6490 PMEL
dbSNP Gene:6490 PMEL
ENSEMBL:ENSG00000185664 PMEL
HGNC:10880 PMEL
Monarch:6490 PMEL
NCBI Gene:6490 PMEL
OMIM:155550 PMEL
UCSC:P40967 PMEL
Reference Transcript
RefSeq:NM_001200054.1 PMEL
RefSeq:NM_001320121.1 PMEL
RefSeq:NM_001320122.1 PMEL
RefSeq:NM_006928.4 PMEL
RefSeq:NM_001200053.1 PMEL
RefSeq:XM_011538685.1 PMEL
RefSeq:XM_006719569.1 PMEL
Other Identifiers
11757418_a_at
16765845
16765848
209848_PM_s_at
209848_s_at
3457335
3457337
3457338
3457339
3457340
3457341
3457342
3457343
3457344
3457345
3457346
3457347
3457348
3457349
3457350
3457351
3457352
3457353
3457354
3457355
3457356
3457357
3457358
3457359
3457360
3457361
3457362
3457363
3457369
38327_at
6490
7963970
A_23_P312851
GE79639
GO:0005515
GO:0005576
GO:0005768
GO:0005771
GO:0005783
GO:0005789
GO:0005794
GO:0005886
GO:0016020
GO:0031410
GO:0032438
GO:0032585
GO:0033106
GO:0033162
GO:0042438
GO:0042470
GO:0042802
GO:0043226
GO:0048023
GO:0070062
GO:0097487
HMNXSV003015530
HMNXSV003027108
HMNXSV003035354
ILMN_1665994
M77348_rna1_s_at
PH_hs_0005222
TC12001589.hg
TC12001590.hg
U31799_at
g494939_3p_a_at
Participates
as a component of
PMEL alpha:PMEL beta [melanosome membrane] (Homo sapiens)
Other forms of this molecule
PMEL alpha [melanosome membrane]
Modified Residues
Name
Inter-chain Crosslink via L-cystine (cross-link) at unknown and 301
PsiMod Name
L-cystine (cross-link)
PsiMod Definition
A protein modification that effectively cross-links two L-cysteine residues to form L-cystine.
Cross References
OpenTargets
ENSG00000185664
ENSEMBL
ENSP00000402758
,
ENST00000548493
,
ENST00000550464
,
ENSP00000450036
,
ENST00000449260
,
ENST00000552882
,
ENSP00000447374
,
ENSP00000448828
,
ENST00000548747
,
ENSP00000449690
HPA
ENSG00000185664-PMEL
PRO
P40967
Pharos - Targets
P40967
GlyGen
P40967
PDB
1TVB
,
7PHR
,
6VM8
,
1TVH
,
6VM7
,
5EU6
,
5EU5
,
6VM9
,
5EU3
,
3CC5
,
4IS6
,
5EU4
,
6VMA
,
6VMC
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