Expression of PMEL in cancer - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

PMEL

premium

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	PMEL
Gene description	Premelanosome protein
Protein class	Predicted intracellular proteins Predicted membrane proteins Predicted secreted proteins
Predicted localization	Intracellular,Membrane,Secreted
Number of transcripts	12
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Tissue enriched (melanoma)
HPA (cell line):	Cell line enriched (SK-MEL-30)
HPA (normal tissue):	Tissue enriched (skin)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Selective cytoplasmic expression in melanocytes.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA031649
	SHOW MORE

PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Tissue enriched (melanoma)

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA031649

GENE INFORMATION
Gene name	PMEL (HGNC Symbol)
Synonyms	D12S53E, gp100, Pmel17, SI, SIL, SILV
Description	Premelanosome protein (HGNC Symbol)
Entrez gene summary	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]
Chromosome	12
Cytoband	q13.2
Chromosome location (bp)	55954105 - 55973317
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185664 (version 83.38)
Entrez gene	6490
UniProt	P40967 (UniProt - Evidence at protein level)
neXtProt	NX_P40967
Antibodypedia	PMEL antibodies

PROTEIN BROWSER

PMEL-001	PMEL-002	PMEL-003	PMEL-004	PMEL-005	PMEL-007	PMEL-008	PMEL-012	PMEL-013	PMEL-015	PMEL-016	PMEL-017

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PMEL-001 ENSP00000448828 ENST00000548747	P40967 [Direct mapping] Melanocyte protein PMEL M-alpha M-beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0032438 [melanosome organization] GO:0032585 [multivesicular body membrane] GO:0042470 [melanosome] Show all	661 aa 70.3 kDa	Yes	1
PMEL-002 ENSP00000447374 ENST00000548493	P40967 [Direct mapping] Melanocyte protein PMEL M-alpha M-beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0032438 [melanosome organization] GO:0032585 [multivesicular body membrane] GO:0042470 [melanosome] Show all	661 aa 70.3 kDa	Yes	1
PMEL-003 ENSP00000449690 ENST00000552882	P40967 [Direct mapping] Melanocyte protein PMEL M-alpha M-beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0032438 [melanosome organization] GO:0032585 [multivesicular body membrane] GO:0042470 [melanosome] Show all	661 aa 70.3 kDa	Yes	1
PMEL-004 ENSP00000450036 ENST00000550464	P40967 [Direct mapping] Melanocyte protein PMEL M-alpha M-beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0032438 [melanosome organization] GO:0032585 [multivesicular body membrane] GO:0042470 [melanosome] Show all	575 aa 60.6 kDa	Yes	1
PMEL-005 ENSP00000402758 ENST00000449260	P40967 [Direct mapping] Melanocyte protein PMEL M-alpha M-beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0032438 [melanosome organization] GO:0032585 [multivesicular body membrane] GO:0042438 [melanin biosynthetic process] GO:0042470 [melanosome] Show all	668 aa 70.9 kDa	Yes	1
PMEL-007 ENSP00000448029 ENST00000550447	F8VUB1 [Direct mapping] Melanocyte protein PMEL Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	290 aa 30.8 kDa	Yes	1
PMEL-008 ENSP00000446633 ENST00000549418	F8VZV2 [Direct mapping] Melanocyte protein PMEL Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		151 aa 16.6 kDa	Yes	0
PMEL-012 ENSP00000448849 ENST00000547137	F8VXH8 [Direct mapping] Melanocyte protein PMEL Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		344 aa 36.7 kDa	Yes	0
PMEL-013 ENSP00000446662 ENST00000546543	F8W1D1 [Direct mapping] Melanocyte protein PMEL Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		299 aa 32.3 kDa	Yes	0
PMEL-015 ENSP00000448871 ENST00000549233	F8VYZ1 [Direct mapping] Melanocyte protein PMEL Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		134 aa 15 kDa	No	0
PMEL-016 ENSP00000447732 ENST00000548803	F8VZC6 [Direct mapping] Melanocyte protein PMEL Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		296 aa 31.7 kDa	Yes	0
PMEL-017 ENSP00000449520 ENST00000549404	H0YIJ2 [Direct mapping] Melanocyte protein PMEL Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		452 aa 47.4 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.