ENSG00000185664


Homo sapiens

Features
Gene ID: ENSG00000185664
  
Biological name :PMEL
  
Synonyms : P40967 / PMEL / premelanosome protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.2
Gene start: 55954105
Gene end: 55973317
  
Corresponding Affymetrix probe sets: 209848_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450036
Ensembl peptide - ENSP00000449520
Ensembl peptide - ENSP00000449690
Ensembl peptide - ENSP00000402758
Ensembl peptide - ENSP00000446633
Ensembl peptide - ENSP00000446662
Ensembl peptide - ENSP00000447374
Ensembl peptide - ENSP00000447732
Ensembl peptide - ENSP00000448029
Ensembl peptide - ENSP00000448828
Ensembl peptide - ENSP00000448849
Ensembl peptide - ENSP00000448871
NCBI entrez gene - 6490     See in Manteia.
OMIM - 155550
RefSeq - XM_011538685
RefSeq - NM_001200053
RefSeq - NM_001200054
RefSeq - NM_001320121
RefSeq - NM_001320122
RefSeq - NM_006928
RefSeq - XM_006719569
RefSeq Peptide - NP_001307050
RefSeq Peptide - NP_001307051
RefSeq Peptide - NP_008859
RefSeq Peptide - NP_001186982
RefSeq Peptide - NP_001186983
swissprot - F8W1D1
swissprot - H0YIJ2
swissprot - F8VXH8
swissprot - F8VYZ1
swissprot - F8VZC6
swissprot - F8VZV2
swissprot - P40967
swissprot - F8VUB1
Ensembl - ENSG00000185664
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pmelaENSDARG00000091298Danio rerio
 pmelbENSDARG00000033760Danio rerio
 PMELENSGALG00000035350Gallus gallus
 PmelENSMUSG00000025359Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GPNMB / Q14956 / glycoprotein nmbENSG0000013623525


Protein motifs (from Interpro)
Interpro ID Name
 IPR000601  PKD domain
 IPR013783  Immunoglobulin-like fold
 IPR022409  PKD/Chitinase domain
 IPR035986  PKD domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0032438 melanosome organization IDA
 biological_processGO:0042438 melanin biosynthetic process IEA
 biological_processGO:0048066 developmental pigmentation IBA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005771 multivesicular body IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032585 multivesicular body membrane IDA
 cellular_componentGO:0042470 melanosome IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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