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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 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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15695812 |
GO:0042802 | identical protein binding | IPI | 19666488 |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032438 | melanosome organization | IBA,IDA | 11694580 |
GO:0042438 | melanin biosynthetic process | IEA | -- |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vitiligo-associated multiple autoimmune disease susceptibility 1 |
|
|
melanoma in congenital melanocytic nevus |
|
|
gallbladder melanoma |
|
|
skin melanoma |
|
|
vogt-koyanagi-harada disease |
|
|