PMEL (premelanosome protein)

2011-01-01  

Identity

HGNC
PMEL
LOCATION
12q13.2
LOCUSID
6490
ALIAS
D12S53E,ME20,ME20-M,ME20M,P1,P100,PMEL17,SI,SIL,SILV,gp100
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6490
MIM: 155550
HGNC: 10880
Ensembl: ENSG00000185664

Variants:

dbSNP: 6490
ClinVar: 6490
TCGA: ENSG00000185664
COSMIC: PMEL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185664ENST00000449260P40967
ENSG00000185664ENST00000546543F8W1D1
ENSG00000185664ENST00000547137F8VXH8
ENSG00000185664ENST00000548493P40967
ENSG00000185664ENST00000548747P40967
ENSG00000185664ENST00000548803F8VZC6
ENSG00000185664ENST00000549233F8VYZ1
ENSG00000185664ENST00000549404H0YIJ2
ENSG00000185664ENST00000549418F8VZV2
ENSG00000185664ENST00000550447F8VUB1
ENSG00000185664ENST00000550464P40967
ENSG00000185664ENST00000552882P40967

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
116945802001Pmel17 initiates premelanosome morphogenesis within multivesicular bodies.110
165168372006A lumenal domain-dependent pathway for sorting to intralumenal vesicles of multivesicular endosomes involved in organelle morphogenesis.106
127326142003Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis.89
128190382003MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma.69
150017142004An antigenic peptide produced by peptide splicing in the proteasome.69
166824082006The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers.47
237543902013BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.45
156958122005MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes.44
198409452009N-terminal domains elicit formation of functional Pmel17 amyloid fibrils.43
196664882009The repeat domain of the melanosome fibril protein Pmel17 forms the amyloid core promoting melanin synthesis.42

Citation

Dessen P

PMEL (premelanosome protein)

Atlas Genet Cytogenet Oncol Haematol. 2011-01-01

Online version: http://atlasgeneticsoncology.org/gene/51925/pmel