PMEL (premelanosome protein)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6490
Gene name Gene Name - the full gene name approved by the HGNC.
Premelanosome protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PMEL
Synonyms (NCBI Gene) Gene synonyms aliases
D12S53E, HMB-45, HMB45, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV, gp100
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanoso
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017320 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
MITF Unknown 12819038
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15695812, 20374249, 26387950
GO:0005576 Component Extracellular region IEA
GO:0005768 Component Endosome IEA
GO:0005771 Component Multivesicular body IEA
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
155550 10880 ENSG00000185664
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID P40967
Protein name 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) [Cleaved into: M-alpha (95 kDa melanoc
Protein function Forms physiological amyloids that play a central role in melanosome morphogenesis and pigmentation. The maturation of unpigmented premelanosomes from stage I to II is marked by assembly of processed amyloidogenic fragments into parallel fibrilla
PDB 1TVB , 1TVH , 3CC5 , 4IS6 , 5EU3 , 5EU4 , 5EU5 , 5EU6 , 6VM7 , 6VM8 , 6VM9 , 6VMA , 6VMC , 7PHR , 9JST , 9JSU , 9JSV , 9JSW , 9JSX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00801 PKD 225 → 301 PKD domain Domain
Tissue specificity TISSUE SPECIFICITY: Normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth. Overexpressed in melanomas. Some expression was found in dysplastic nevi. {ECO:0000269|Pub
Sequence 
MDLVLKRCLLHLAVIGALLAVGATKVPRNQDWLGVSRQLRTKAWNRQLYPEWTEAQRLDC
WRGGQVSLKVSNDGPTLIGANASFSIALNFPGSQKVLPDGQVIWVNNTIINGSQVWGGQP
VYPQETDDACIFPDGGPCPSGSWSQKRSFVYVWKTWGQYWQVLGGPVSGLSIGTGRAMLG
THTMEVTVYHRRGSRSYVPLAHSSSAFTITDQVPFSVSVSQLRALDGGNKHFLRNQPLTF
ALQLHDPSGYLAEADLSYTWDFGDSSGTLISRALVVTHTYLEPGPVTAQVVLQAAIPLTS
CGSSPVPGTTDGHRPTAEAPNTTAGQVPTTEVVGTTPGQAPTAEPSGTTSVQVPTTEVIS
TAPVQMPTAESTGMTPEKVPVSEVMGTTLAEMSTPEATGMTPAEVSIVVLSGTTAAQVTT
TEWVETTARELPIPEPEGPDASSIMSTESITGSLGPLLDGTATLRLVKRQVPLDCVLYRY
GSFSVTLDIVQGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRL
CQPVLPSPACQLVLHQILKGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIV
GILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCPIGENSPLLSGQQ
V
Sequence length 661
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 19840945, 32868414
Autoimmune Diseases Stimulate 28630054
Disease Associate 2931454
Exanthema Associate 32816891
Glioblastoma Associate 31320597, 9176405
Glioma Associate 17255279
Infections Associate 12939642
Leukemia Associate 6233301
Leukemia Promyelocytic Acute Associate 24108701
Lung Neoplasms Associate 34981446