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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 premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melano... See more...
Aliases for PMEL Gene
Aliases for PMEL Gene
External Ids for PMEL Gene
- HGNC: 10880
- Entrez Gene: 6490
- Ensembl: ENSG00000185664
- OMIM: 155550
- UniProtKB: P40967
Previous HGNC Symbols for PMEL Gene
- SIL
- SILV
Previous GeneCards Identifiers for PMEL Gene
- GC12M056350
- GC12M056352
Summaries for PMEL 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 premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
GeneCards Summary for PMEL Gene
PMEL (Premelanosome Protein) is a Protein Coding gene. Diseases associated with PMEL include Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 and Melanoma In Congenital Melanocytic Nevus. An important paralog of this gene is GPNMB.
UniProtKB/Swiss-Prot Summary for PMEL Gene
-
Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.
Additional gene information for PMEL Gene
- HGNC(10880)
- Entrez Gene(6490)
- Ensembl(ENSG00000185664)
- OMIM(155550)
- UniProtKB(P40967)
- Open Targets Platform(ENSG00000185664)
- Search for PMEL at DataMed
- Search for PMEL at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMEL Gene
Genomics for PMEL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PMEL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PMEL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMEL
Genomic Locations for PMEL Gene
Genomic Locations for PMEL Gene
- chr12:55,954,105-55,973,317
- (GRCh38/hg38)
- Size:
- 19,213 bases
- Orientation:
- Minus strand
- chr12:56,347,889-56,367,101
- (GRCh37/hg19)
- Size:
- 19,213 bases
- Orientation:
- Minus strand
Genomic View for PMEL Gene
Genes around PMEL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.2 by HGNC
- 12q13.2 by Entrez Gene
- 12q13.2 by Ensembl
PMEL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PMEL Gene
Proteins for PMEL Gene
-
Protein details for PMEL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P40967-PMEL_HUMAN
- Recommended name:
- Melanocyte protein PMEL
- Protein Accession:
- P40967
- B3KS57
- B7Z6D7
- Q12763
- Q14448
- Q14817
- Q16565
Protein attributes for PMEL Gene
- Size:
- 661 amino acids
- Molecular mass:
- 70255 Da
- Quaternary structure:
-
- Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta. Interacts with MLANA. Interacts (via luminal domain) with CD63; this is important for normal sorting of the luminal domain after proteolytic processing.
- SequenceCaution:
-
- Sequence=AAA35930.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA35930.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for PMEL Gene
Protein Expression for PMEL Gene
Post-translational modifications for PMEL Gene
- A small amount of P1/P100 (major form) undergoes glycosylation to yield P2/P120 (minor form). P2 is cleaved by a furin-like proprotein convertase (PC) in a pH-dependent manner in a post-Golgi, prelysosomal compartment into two disulfide-linked subunits: a large lumenal subunit, M-alpha/ME20-S, and an integral membrane subunit, M-beta. Despite cleavage, only a small fraction of M-alpha is secreted, whereas most M-alpha and M-beta remain associated with each other intracellularly. M-alpha is further processed to M-alpha N and M-alpha C. M-alpha C further undergoes processing to yield M-alpha C1 and M-alpha C3 (M-alpha C2 in the case of PMEL17-is or PMEL17-ls). Formation of intralumenal fibrils in the melanosomes requires the formation of M-alpha that becomes incorporated into the fibrils. Stage II melanosomes harbor only Golgi-modified Pmel17 fragments that are derived from M-alpha and that bear sialylated O-linked oligosaccharides.
- N-glycosylated. O-glycosylated; contains sialic acid.
-
Glycosylation at Asn81, Asn106, Asn111, Asn321, and Asn568
- NX_P40967 (NX_P40967-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PMEL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences PMEL / SILV / gp100 Antibody
- G Biosciences Immunotag™ PMEL17 / GP100 Antibody
- NSJ Bioreagents PMEL17 Antibody (Mouse Monoclonal)
- Creative Diagnostics Anti-PMEL monoclonal antibody, clone 8F4
-
Custom Antibody ServicesOriGene Antibodies for PMEL
- AM33241PU-S
- AM33241PU-T
- AM50168PU-S
- AM50168PU-T
- AM50169PU-S
- AM50169PU-T
- CF500400
- CF500402
- CF500423
- CF500424
- CF500425
- CF803054
- CF803133
- CF803177
- CF803485
- CF803486
- TA302608
- TA341871
- TA500400
- TA500400S
- TA500402
- TA500402S
- TA500423
- TA500423S
- TA500424
- TA500424S
- TA500425
- TA500425S
- TA803054
- TA803054S
- TA803133
- TA803133S
- TA803177
- TA803177S
- TA803485
- TA803485S
- TA803486
- TA803486S
- Novus Biologicals Antibodies for PMEL
-
Abcam antibodies for PMEL
- Invitrogen Antibodies for PMEL (AFLGC-PMEL)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PMEL
- Sino Biological Antibodies for PMEL
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PMEL
- Origene Custom Protein Services for PMEL
- antibodies-online: Show 12 available PMEL Proteins ranked by validation data
- Compare Top PMEL Proteins
-
Quality Products:
-
Abcam proteins for PMEL
Assay Products
- antibodies-online: Show 29 available PMEL Elisa Kits ranked by validation data
- Compare Top PMEL Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PMEL Gene
Domains & Families for PMEL Gene
Gene Families for PMEL Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PMEL Gene
- InterPro:
- Blocks:
-
- PKD
- ProtoNet:
Suggested Antigen Peptide Sequences for PMEL Gene
- GenScript: Design optimal peptide antigens:
-
- Silver locus protein homolog (PMEL_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P40967UniProtKB/Swiss-Prot:
PMEL_HUMAN :- The RPT domain is essential for the generation of the fibrillar matrix of melanosomes.
- Belongs to the PMEL/NMB family.
- Domain:
-
- The RPT domain is essential for the generation of the fibrillar matrix of melanosomes.
- The lumenal domain is necessary for correct processing and trafficking to melanosomes.
- Family:
-
- Belongs to the PMEL/NMB family.
Function for PMEL Gene
Molecular function for PMEL Gene
- UniProtKB/Swiss-Prot Function:
- Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.
Phenotypes From GWAS Catalog for PMEL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15695812 |
| GO:0042802 | identical protein binding | IPI | 19666488 |
Phenotypes for PMEL Gene
- MGI mutant phenotypes for PMEL:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for PMEL:
Animal Models for PMEL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PMEL - Select products 50% OFF >
- * PMEL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PMEL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PMEL
-
Santa Cruz Biotechnology (SCBT) CRISPR for PMEL
miRNA for PMEL Gene
- miRTarBase miRNAs that target PMEL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PMEL
- Browse OriGene Inhibitory RNA Products For PMEL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMEL
Clone Products
- Applied Biological Materials (abm): Clones for PMEL - Select products 50% OFF >
- * PMEL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209549
- MR209549
- MR209549L1
- MR209549L2
- MR209549L3
- MR209549L4
- RC200663
- RC200663L1
- RC200663L2
- RC200663L3
- RC200663L4
- RC234469
- RC234681
- RG200663
- RG234469
- RG234681
- RR213488
- RR213488L3
- RR213488L4
- MR209549L1V
- MR209549L2V
- MR209549L3V
- MR209549L4V
- RC200663L1V
- RC200663L2V
- RC200663L3V
- RC200663L4V
- RR213488L3V
- RR213488L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PMEL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PMEL
Cell Line Products
-
Horizon Cell Lines for PMEL
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PMEL Gene
Localization for PMEL Gene
Subcellular locations from UniProtKB/Swiss-Prot for PMEL Gene
- Endoplasmic reticulum membrane. Single-pass type I membrane protein. Golgi apparatus. Melanosome. Endosome, multivesicular body. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes predominantly to intralumenal vesicles (ILVs) within multivesicular bodies. Associates with ILVs found within the lumen of premelanosomes and melanosomes and particularly in compartments that serve as precursors to the striated stage II premelanosomes.
- [M-alpha]: Secreted.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| endosome | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
- Endoplasmic reticulum (3)
- Golgi apparatus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005771 | multivesicular body | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA,IDA | 15695812 |
Pathways & Interactions for PMEL Gene
Interacting Proteins for PMEL Gene
Selected Interacting proteins:
P40967-PMEL_HUMAN
ENSP00000402758
for PMEL Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PMEL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032438 | melanosome organization | IBA,IDA | 11694580 |
| GO:0042438 | melanin biosynthetic process | IEA | -- |
No data available for Pathways by source for PMEL Gene
Transcripts for PMEL Gene
mRNA/cDNA for PMEL Gene
- 6 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000449260 2127 nts (view in UCSC)
- ENST00000546543 912 nts (view in UCSC)
- ENST00000547137 1047 nts (view in UCSC)
- ENST00000548493 2204 nts (view in UCSC)
- ENST00000548689 576 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PMEL - Select products 50% OFF >
- * PMEL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PMEL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PMEL
-
Santa Cruz Biotechnology (SCBT) CRISPR for PMEL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PMEL
- Browse OriGene Inhibitory RNA Products For PMEL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMEL
Clone Products
- Applied Biological Materials (abm): Clones for PMEL - Select products 50% OFF >
- * PMEL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209549
- MR209549
- MR209549L1
- MR209549L2
- MR209549L3
- MR209549L4
- RC200663
- RC200663L1
- RC200663L2
- RC200663L3
- RC200663L4
- RC234469
- RC234681
- RG200663
- RG234469
- RG234681
- RR213488
- RR213488L3
- RR213488L4
- MR209549L1V
- MR209549L2V
- MR209549L3V
- MR209549L4V
- RC200663L1V
- RC200663L2V
- RC200663L3V
- RC200663L4V
- RR213488L3V
- RR213488L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PMEL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PMEL
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
| ExUns: | 13b | ^ | 14 | ^ | 15a | · | 15b | · | 15c | ^ | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | - | ||||||||||
| SP3: | |||||||||||
| SP4: | - | ||||||||||
| SP5: | - | ||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | |||||||||||
| SP9: | |||||||||||
| SP10: | |||||||||||
| SP11: | |||||||||||
| SP12: | |||||||||||
| SP13: | |||||||||||
| SP14: | |||||||||||
| SP15: | |||||||||||
| SP16: | |||||||||||
| SP17: |
Relevant External Links for PMEL Gene
- GeneLoc Exon Structure for
- PMEL
Expression for PMEL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Epidermis (Integumentary System)
- Eye (Sensory Organs)
- Melanocytes (Integumentary System)
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Surface Ectoderm
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
-
Ectoderm (Gastrulation Derivatives)
- Surface Ectoderm Cells Surface Ectoderm
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for PMEL Gene
This gene is overexpressed in Cervix - Ectocervix (x22.0), Skin - Not Sun Exposed (Suprapubic) (x9.2), and Skin - Sun Exposed (Lower leg) (x6.6).
This gene is overexpressed in Hair follicle (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PMEL Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMEL
SOURCE GeneReport for Unigene cluster for PMEL Gene:
Hs.95972mRNA Expression by UniProt/SwissProt for PMEL Gene:
P40967-PMEL_HUMAN
Tissue specificity:
Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found in normal tissues nor in carcinomas. Normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth.
Evidence on tissue expression from TISSUES for PMEL Gene
- Skin(5)
- Spleen(4.6)
- Eye(4.3)
- Lymph node(3.1)
- Nervous system(3.1)
- Blood(3)
- Intestine(2.3)
- Kidney(2.2)
- Liver(2.1)
- Bone marrow(2.1)
Primer Products
-
OriGene qPCR primer pairs for PMEL
-
OriGene qPCR primer pairs and template standards for PMEL
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PMEL Gene
Orthologs for PMEL Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PMEL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PMEL 30 |
|
||
| PMEL17 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | PMEL 30 |
|
||
| PMEL17 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Pmel 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pmel 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PMEL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PMEL 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PMEL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pmel 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pmela 30 31 |
|
OneToMany | |
| pmelb 31 |
|
OneToMany |
- Species where no ortholog for PMEL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PMEL Gene
- ENSEMBL:
- Gene Tree for PMEL (if available)
- TreeFam:
- Gene Tree for PMEL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PMEL: view image
Paralogs for PMEL Gene
Variants for PMEL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMEL Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708945 | Benign: not provided | 55,957,617(-) | T/C | MISSENSE_VARIANT | |
| 713129 | Benign: not provided | 55,956,963(-) | G/A | MISSENSE_VARIANT | |
| 737198 | Likely Benign: not provided | 55,954,322(-) | G/A | SYNONYMOUS_VARIANT | |
| 739674 | Likely Benign: not provided | 55,957,274(-) | T/C | SYNONYMOUS_VARIANT | |
| 769389 | Benign: not provided | 55,957,193(-) | C/G | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.85;
67.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PMEL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMEL Gene
Disorders for PMEL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vitiligo-associated multiple autoimmune disease susceptibility 1 |
|
|
| melanoma in congenital melanocytic nevus |
|
|
| gallbladder melanoma |
|
|
| skin melanoma |
|
|
| vogt-koyanagi-harada disease |
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Search PMEL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PMEL
No data available for UniProtKB/Swiss-Prot and Genatlas for PMEL Gene
Publications for PMEL Gene
- Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes. (PMID: 17991747) Harper DC … Marks MS (The Journal of biological chemistry 2008) 3 4 23
- MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. (PMID: 15695812) Hoashi T … Hearing VJ (The Journal of biological chemistry 2005) 3 4 23
- Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. (PMID: 15096515) Yasumoto K … Hearing VJ (The Journal of biological chemistry 2004) 3 4 23
- Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. (PMID: 12732614) Berson JF … Marks MS (The Journal of cell biology 2003) 3 4 23
- A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats. (PMID: 14632201) Nichols SE … Marks MS (The Journal of investigative dermatology 2003) 3 4 23
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