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Tbio
PMEL
Melanocyte protein PMEL

Protein Summary
Description
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. 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 ma ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000449260
  • ENSP00000402758
  • ENSG00000185664
  • ENST00000548493
  • ENSP00000447374
  • ENST00000548747
  • ENSP00000448828
  • ENST00000550464
  • ENSP00000450036
  • ENST00000552882
  • ENSP00000449690

Symbol
  • D12S53E
  • PMEL17
  • SILV
  • P1
  • SI
  • SIL
  • ME20
  • P100
  • SILV
  • ME20M
  • gp100
  • ME20-M
  • PMEL17
  • D12S53E
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.96
histone modification site profile
0.85
gene perturbation
0.83
biological term
0.64
cell line
0.61


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 806.57   (req: < 5)
Gene RIFs: 52   (req: <= 3)
Antibodies: 1014   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 806.57   (req: >= 5)
Gene RIFs: 52   (req: > 3)
Antibodies: 1014   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (42)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
6
4
4
3.4
95.8
7
7
0
1.1
93.3
4
3
0
1.3
93.1
mathematical ability
3
3
3
91.7
3
3
0
1.3
91.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
4
3.4
95.8
0
1.1
93.3
0
1.3
93.1
mathematical ability
3
91.7
0
1.3
91.5
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
premelanosome protein
VGNC:8498
451977
Macaque
premelanosome protein
710921
Mouse
MGI:98301
20431
Rat
RGD:1307513
362818
Dog
premelanosome protein
VGNC:44730
481102
Species
Name
OMA
EggNOG
Inparanoid
Chimp
premelanosome protein
Macaque
premelanosome protein
Mouse
Rat
Dog
premelanosome protein
Protein Structure (8 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P40967-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 8
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Gene Ontology Terms (10)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
IntAct
Protein-Protein Interactions (215)
1 – 10 of 215
ATP2A3
Tchem
Family:  Transporter
Novelty:  0.0090982
p_int:  0.999962985
p_ni:  0.000037015
Data Source:  BioPlex
TYK2
Tclin
Family:  Kinase
Novelty:  0.00237955
p_int:  0.999826399
p_ni:  0.000173594
p_wrong:  7e-9
Data Source:  BioPlex
GUSB
Tchem
Family:  Enzyme
Novelty:  0.00053974
p_int:  0.999457311
p_ni:  0.000542688
Score:  0.208
Data Source:  BioPlex,STRINGDB
TPCN1
Tchem
Family:  IC
Novelty:  0.003844
p_int:  0.998721161
p_ni:  0.001278819
p_wrong:  2.1e-8
Data Source:  BioPlex
C17orf80
Tbio
Novelty:  0.15267004
p_int:  0.996622811
p_ni:  0.003377042
p_wrong:  1.48e-7
Data Source:  BioPlex
SPDL1
Tbio
Novelty:  0.01399644
p_int:  0.995765595
p_ni:  0.004234393
p_wrong:  1.1e-8
Data Source:  BioPlex
SLC27A6
Tbio
Family:  Transporter
Novelty:  0.01120087
p_int:  0.99421598
p_ni:  0.00578402
Data Source:  BioPlex
MT-ND1
Tclin
Family:  Enzyme
Novelty:  0.00090183
p_int:  0.993754958
p_ni:  0.005059289
p_wrong:  0.001185753
Data Source:  BioPlex
INTS4
Tdark
Novelty:  0.20868831
p_int:  0.992035721
p_ni:  0.007964279
Data Source:  BioPlex
CLCN7
Tchem
Family:  IC
Novelty:  0.00764796
p_int:  0.98838694
p_ni:  0.011591249
p_wrong:  0.000021811
Data Source:  BioPlex
Publication Statistics
PubMed Score  806.57

PubMed score by year
PubTator Score  392.45

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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