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Entry version 178 (22 Apr 2020)
Sequence version 2 (01 Nov 1997)
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Protein

Melanocyte protein PMEL

Gene

PMEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processMelanin biosynthesis
LigandSialic acid

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P40967

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Melanocyte protein PMEL
Alternative name(s):
ME20-M
Short name:
ME20M
Melanocyte protein Pmel 17
Melanocytes lineage-specific antigen GP100
Melanoma-associated ME20 antigen
P1
P100
Premelanosome protein
Silver locus protein homolog
Cleaved into the following 2 chains:
Alternative name(s):
95 kDa melanocyte-specific secreted glycoprotein
P26
Secreted melanoma-associated ME20 antigen
Short name:
ME20-S
Short name:
ME20S
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMEL
Synonyms:D12S53E, PMEL17, SILV
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10880 PMEL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
155550 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P40967

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini470 – 595LumenalSequence analysisAdd BLAST126
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Topological domaini617 – 661CytoplasmicSequence analysisAdd BLAST45

Keywords - Cellular componenti

Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi468 – 469KR → QQ: Loss of proteolytic cleavage. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
6490

Open Targets

More...
OpenTargetsi
ENSG00000185664

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35781

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P40967 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3712988

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMEL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2507099

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 241 PublicationAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002471225 – 661Melanocyte protein PMELAdd BLAST637
ChainiPRO_000029226325 – 467M-alphaAdd BLAST443
ChainiPRO_0000386648470 – 661M-betaAdd BLAST192

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi81N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi111N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi321N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi568N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

A small amount of P1/P100 (major form) undergoes glycosylation to yield P2/P120 (minor form). P2 is cleaved by a furin-like proprotein convertase (PC) in a pH-dependent manner in a post-Golgi, prelysosomal compartment into two disulfide-linked subunits: a large lumenal subunit, M-alpha/ME20-S, and an integral membrane subunit, M-beta. Despite cleavage, only a small fraction of M-alpha is secreted, whereas most M-alpha and M-beta remain associated with each other intracellularly. M-alpha is further processed to M-alpha N and M-alpha C. M-alpha C further undergoes processing to yield M-alpha C1 and M-alpha C3 (M-alpha C2 in the case of PMEL17-is or PMEL17-ls). Formation of intralumenal fibrils in the melanosomes requires the formation of M-alpha that becomes incorporated into the fibrils. Stage II melanosomes harbor only Golgi-modified Pmel17 fragments that are derived from M-alpha and that bear sialylated O-linked oligosaccharides.5 Publications
N-glycosylated. O-glycosylated; contains sialic acid.

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P40967

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P40967

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P40967

PeptideAtlas

More...
PeptideAtlasi
P40967

PRoteomics IDEntifications database

More...
PRIDEi
P40967

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55393 [P40967-1]
55394 [P40967-2]
55395 [P40967-3]
55396 [P40967-4]
55397 [P40967-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P40967

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P40967

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found in normal tissues nor in carcinomas. Normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185664 Expressed in pigmented layer of retina and 111 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P40967 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P40967 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185664 Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta.

Interacts with MLANA.

Interacts (via luminal domain) with CD63; this is important for normal sorting of the luminal domain after proteolytic processing.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112381, 60 interactors

Database of interacting proteins

More...
DIPi
DIP-48937N

Protein interaction database and analysis system

More...
IntActi
P40967, 50 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000402758

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P40967 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P40967

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P40967

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini255 – 292PKDPROSITE-ProRule annotationAdd BLAST38
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati315 – 3271Add BLAST13
Repeati328 – 3402Add BLAST13
Repeati341 – 3533Add BLAST13
Repeati354 – 3664Add BLAST13
Repeati367 – 3795Add BLAST13
Repeati380 – 3926Add BLAST13
Repeati393 – 4057Add BLAST13
Repeati406 – 4188Add BLAST13
Repeati419 – 4319Add BLAST13
Repeati432 – 44410Add BLAST13

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni315 – 44410 X 13 AA approximate tandem repeats, RPT domainAdd BLAST130

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The RPT domain is essential for the generation of the fibrillar matrix of melanosomes.1 Publication
The lumenal domain is necessary for correct processing and trafficking to melanosomes.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PMEL/NMB family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHN4 Eukaryota
ENOG410Z44K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183188

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_017264_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P40967

KEGG Orthology (KO)

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KOi
K17304

Identification of Orthologs from Complete Genome Data

More...
OMAi
DVNQNDQ

Database of Orthologous Groups

More...
OrthoDBi
393436at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P40967

TreeFam database of animal gene trees

More...
TreeFami
TF334865

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR000601 PKD_dom
IPR035986 PKD_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00801 PKD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00089 PKD, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49299 SSF49299, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50093 PKD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P40967-1) [UniParc]FASTAAdd to basket
Also known as: Intermediate form, Pmel17-i

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP
60 70 80 90 100
EWTEAQRLDC WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG
110 120 130 140 150
QVIWVNNTII NGSQVWGGQP VYPQETDDAC IFPDGGPCPS GSWSQKRSFV
160 170 180 190 200
YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG THTMEVTVYH RRGSRSYVPL
210 220 230 240 250
AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF ALQLHDPSGY
260 270 280 290 300
LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS
310 320 330 340 350
CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS
360 370 380 390 400
VQVPTTEVIS TAPVQMPTAE STGMTPEKVP VSEVMGTTLA EMSTPEATGM
410 420 430 440 450
TPAEVSIVVL SGTTAAQVTT TEWVETTARE LPIPEPEGPD ASSIMSTESI
460 470 480 490 500
TGSLGPLLDG TATLRLVKRQ VPLDCVLYRY GSFSVTLDIV QGIESAEILQ
510 520 530 540 550
AVPSGEGDAF ELTVSCQGGL PKEACMEISS PGCQPPAQRL CQPVLPSPAC
560 570 580 590 600
QLVLHQILKG GSGTYCLNVS LADTNSLAVV STQLIMPGQE AGLGQVPLIV
610 620 630 640 650
GILLVLMAVV LASLIYRRRL MKQDFSVPQL PHSSSHWLRL PRIFCSCPIG
660
ENSPLLSGQQ V
Length:661
Mass (Da):70,255
Last modified:November 1, 1997 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8A904FAB16715653
GO
Isoform 2 (identifier: P40967-2) [UniParc]FASTAAdd to basket
Also known as: Long form, Pmel17-l

The sequence of this isoform differs from the canonical sequence as follows:
     587-587: P → PVPGILLT

Show »
Length:668
Mass (Da):70,949
Checksum:iCF204FFB7E026791
GO
Isoform 3 (identifier: P40967-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-111: Missing.

Show »
Length:575
Mass (Da):60,581
Checksum:i2D84400CD1A8FE4E
GO
Isoform 4 (identifier: P40967-4) [UniParc]FASTAAdd to basket
Also known as: Short form, Pmel17-ls

The sequence of this isoform differs from the canonical sequence as follows:
     373-414: Missing.

Show »
Length:619
Mass (Da):66,035
Checksum:iCAE0E8B0EF10550B
GO
Isoform 5 (identifier: P40967-5) [UniParc]FASTAAdd to basket
Also known as: Short form, Pmel17-is

The sequence of this isoform differs from the canonical sequence as follows:
     373-414: Missing.
     587-587: P → PVPGILLT

Show »
Length:626
Mass (Da):66,729
Checksum:i8ECA4B3E15B0CD51
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VUB1F8VUB1_HUMAN
Melanocyte protein PMEL
PMEL
290Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VZC6F8VZC6_HUMAN
Melanocyte protein PMEL
PMEL
296Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VXH8F8VXH8_HUMAN
Melanocyte protein PMEL
PMEL
344Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W1D1F8W1D1_HUMAN
Melanocyte protein PMEL
PMEL
299Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VZV2F8VZV2_HUMAN
Melanocyte protein PMEL
PMEL
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YIJ2H0YIJ2_HUMAN
Melanocyte protein PMEL
PMEL
452Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VYZ1F8VYZ1_HUMAN
Melanocyte protein PMEL
PMEL
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA35930 differs from that shown. Reason: Frameshift.Curated
The sequence AAA35930 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti162V → F no nucleotide entry (PubMed:8022805).Curated1
Sequence conflicti274L → P in AAA60121 (PubMed:1924386).Curated1
Sequence conflicti274L → P in AAB19181 (PubMed:8739560).Curated1
Sequence conflicti373G → S in BAH13223 (PubMed:14702039).Curated1
Sequence conflicti592G → GG AA sequence (PubMed:8179825).Curated1
Sequence conflicti597P → R in AAA60121 (PubMed:1924386).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050606320P → H. Corresponds to variant dbSNP:rs2071024Ensembl.1
Natural variantiVAR_050607370E → D. Corresponds to variant dbSNP:rs17118154Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03826626 – 111Missing in isoform 3. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_038267373 – 414Missing in isoform 4 and isoform 5. CuratedAdd BLAST42
Alternative sequenceiVSP_038268587P → PVPGILLT in isoform 2 and isoform 5. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M77348 mRNA Translation: AAA60121.1
U01874 mRNA Translation: AAA18479.1
S73003 mRNA Translation: AAC60634.1
U31799 U31798 Genomic DNA Translation: AAB00386.1
U20093, U19491 Genomic DNA Translation: AAB19181.1
M32295 mRNA Translation: AAA35930.1 Sequence problems.
BT007202 mRNA Translation: AAP35866.1
AK092881 mRNA Translation: BAG52619.1
AK300150 mRNA Translation: BAH13223.1
AC025162 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96853.1
BC001414 mRNA Translation: AAH01414.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS55833.1 [P40967-3]
CCDS55834.1 [P40967-2]
CCDS8897.1 [P40967-1]

Protein sequence database of the Protein Information Resource

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PIRi
A41234
I38400

NCBI Reference Sequences

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RefSeqi
NP_001186982.1, NM_001200053.1 [P40967-3]
NP_001186983.1, NM_001200054.1 [P40967-2]
NP_001307050.1, NM_001320121.1 [P40967-5]
NP_001307051.1, NM_001320122.1 [P40967-4]
NP_008859.1, NM_006928.4 [P40967-1]
XP_006719632.1, XM_006719569.1
XP_011536987.1, XM_011538685.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000449260; ENSP00000402758; ENSG00000185664 [P40967-2]
ENST00000548493; ENSP00000447374; ENSG00000185664 [P40967-1]
ENST00000548747; ENSP00000448828; ENSG00000185664 [P40967-1]
ENST00000550464; ENSP00000450036; ENSG00000185664 [P40967-3]
ENST00000552882; ENSP00000449690; ENSG00000185664 [P40967-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6490

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6490

UCSC genome browser

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UCSCi
uc001sip.4 human [P40967-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77348 mRNA Translation: AAA60121.1
U01874 mRNA Translation: AAA18479.1
S73003 mRNA Translation: AAC60634.1
U31799 U31798 Genomic DNA Translation: AAB00386.1
U20093, U19491 Genomic DNA Translation: AAB19181.1
M32295 mRNA Translation: AAA35930.1 Sequence problems.
BT007202 mRNA Translation: AAP35866.1
AK092881 mRNA Translation: BAG52619.1
AK300150 mRNA Translation: BAH13223.1
AC025162 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96853.1
BC001414 mRNA Translation: AAH01414.1
CCDSiCCDS55833.1 [P40967-3]
CCDS55834.1 [P40967-2]
CCDS8897.1 [P40967-1]
PIRiA41234
I38400
RefSeqiNP_001186982.1, NM_001200053.1 [P40967-3]
NP_001186983.1, NM_001200054.1 [P40967-2]
NP_001307050.1, NM_001320121.1 [P40967-5]
NP_001307051.1, NM_001320122.1 [P40967-4]
NP_008859.1, NM_006928.4 [P40967-1]
XP_006719632.1, XM_006719569.1
XP_011536987.1, XM_011538685.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1TVBX-ray1.80C/F209-217[»]
1TVHX-ray1.80C/F209-217[»]
3CC5X-ray1.91C/F25-33[»]
4IS6X-ray2.50C44-59[»]
5EU3X-ray1.97C280-288[»]
5EU4X-ray2.12C/F280-288[»]
5EU5X-ray1.54C280-288[»]
5EU6X-ray2.02C280-287[»]
SMRiP40967
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112381, 60 interactors
DIPiDIP-48937N
IntActiP40967, 50 interactors
STRINGi9606.ENSP00000402758

Chemistry databases

ChEMBLiCHEMBL3712988

PTM databases

iPTMnetiP40967
PhosphoSitePlusiP40967

Polymorphism and mutation databases

BioMutaiPMEL
DMDMi2507099

Proteomic databases

jPOSTiP40967
MassIVEiP40967
PaxDbiP40967
PeptideAtlasiP40967
PRIDEiP40967
ProteomicsDBi55393 [P40967-1]
55394 [P40967-2]
55395 [P40967-3]
55396 [P40967-4]
55397 [P40967-5]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
P40967

Antibodypedia a portal for validated antibodies

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Antibodypediai
746 1075 antibodies

The DNASU plasmid repository

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DNASUi
6490

Genome annotation databases

EnsembliENST00000449260; ENSP00000402758; ENSG00000185664 [P40967-2]
ENST00000548493; ENSP00000447374; ENSG00000185664 [P40967-1]
ENST00000548747; ENSP00000448828; ENSG00000185664 [P40967-1]
ENST00000550464; ENSP00000450036; ENSG00000185664 [P40967-3]
ENST00000552882; ENSP00000449690; ENSG00000185664 [P40967-1]
GeneIDi6490
KEGGihsa:6490
UCSCiuc001sip.4 human [P40967-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6490
DisGeNETi6490

GeneCards: human genes, protein and diseases

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GeneCardsi
PMEL
HGNCiHGNC:10880 PMEL
HPAiENSG00000185664 Tissue enriched (retina)
MIMi155550 gene
neXtProtiNX_P40967
OpenTargetsiENSG00000185664
PharmGKBiPA35781

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHN4 Eukaryota
ENOG410Z44K LUCA
GeneTreeiENSGT00950000183188
HOGENOMiCLU_017264_0_0_1
InParanoidiP40967
KOiK17304
OMAiDVNQNDQ
OrthoDBi393436at2759
PhylomeDBiP40967
TreeFamiTF334865

Enzyme and pathway databases

SIGNORiP40967

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PMEL human
EvolutionaryTraceiP40967

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PMEL_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6490
PharosiP40967 Tbio

Protein Ontology

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PROi
PR:P40967
RNActiP40967 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185664 Expressed in pigmented layer of retina and 111 other tissues
ExpressionAtlasiP40967 baseline and differential
GenevisibleiP40967 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
PfamiView protein in Pfam
PF00801 PKD, 1 hit
SMARTiView protein in SMART
SM00089 PKD, 1 hit
SUPFAMiSSF49299 SSF49299, 1 hit
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPMEL_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P40967
Secondary accession number(s): B3KS57
, B7Z6D7, Q12763, Q14448, Q14817, Q16565
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 1, 1997
Last modified: April 22, 2020
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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