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
375524742023Biogenesis of fibrils requires C-mannosylation of PMEL.0
375524742023Biogenesis of fibrils requires C-mannosylation of PMEL.0
338333282021Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL.3
340283902021PMEL as a Prognostic Biomarker and Negatively Associated With Immune Infiltration in Skin Cutaneous Melanoma (SKCM).10
342078492021Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.1
338333282021Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL.3
340283902021PMEL as a Prognostic Biomarker and Negatively Associated With Immune Infiltration in Skin Cutaneous Melanoma (SKCM).10
342078492021Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.1
322770522020Modulating functional amyloid formation via alternative splicing of the premelanosomal protein PMEL17.7
328684142020Defining an amyloid link Between Parkinson's disease and melanoma.9
330686372020Hofmeister Ions Modulate the Autocatalytic Amyloidogenesis of an Intrinsically Disordered Functional Amyloid Domain via Unusual Biphasic Kinetics.4
322770522020Modulating functional amyloid formation via alternative splicing of the premelanosomal protein PMEL17.7
328684142020Defining an amyloid link Between Parkinson's disease and melanoma.9
330686372020Hofmeister Ions Modulate the Autocatalytic Amyloidogenesis of an Intrinsically Disordered Functional Amyloid Domain via Unusual Biphasic Kinetics.4
304714512019Lysophospholipids induce fibrillation of the repeat domain of Pmel17 through intermediate core-shell structures.8

Citation

Dessen P

PMEL (premelanosome protein)

Atlas Genet Cytogenet Oncol Haematol. 2011-01-01

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