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P40967

- PMEL_HUMAN

UniProt

P40967 - PMEL_HUMAN

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Protein

Melanocyte protein PMEL

Gene

PMEL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

  1. melanin biosynthetic process Source: UniProtKB-KW
  2. melanosome organization Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Melanin biosynthesis

Keywords - Ligandi

Sialic acid

Names & Taxonomyi

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
Gene namesi
Name:PMEL
Synonyms:D12S53E, PMEL17, SILV
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:10880. PMEL.

Subcellular locationi

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus. Melanosome. Endosomemultivesicular body
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes predominantly to intralumenal vesicles (ILVs) within multivesicular bodies. Associates with ILVs found within the lumen of premelanosomes and melanosomes and particularly in compartments that serve as precursors to the striated stage II premelanosomes.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini470 – 595126LumenalSequence AnalysisAdd
BLAST
Transmembranei596 – 61621HelicalSequence AnalysisAdd
BLAST
Topological domaini617 – 66145CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. extracellular region Source: UniProtKB-KW
  3. Golgi apparatus Source: UniProtKB
  4. integral component of membrane Source: UniProtKB-KW
  5. melanosome Source: UniProtKB
  6. multivesicular body membrane Source: UniProtKB
  7. plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi468 – 4692KR → QQ: Loss of proteolytic cleavage. 1 Publication

Organism-specific databases

PharmGKBiPA35781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 24241 PublicationAdd
BLAST
Chaini25 – 661637Melanocyte protein PMELPRO_0000024712Add
BLAST
Chaini25 – 467443M-alphaPRO_0000292263Add
BLAST
Chaini470 – 661192M-betaPRO_0000386648Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi81 – 811N-linked (GlcNAc...)Sequence Analysis
Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence Analysis
Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi568 – 5681N-linked (GlcNAc...)Sequence Analysis

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

PaxDbiP40967.
PRIDEiP40967.

PTM databases

PhosphoSiteiP40967.

Expressioni

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

BgeeiP40967.
CleanExiHS_SILV.
ExpressionAtlasiP40967. baseline and differential.
GenevestigatoriP40967.

Organism-specific databases

HPAiHPA001337.

Interactioni

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

Protein-protein interaction databases

DIPiDIP-48937N.
MINTiMINT-4723252.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1TVBX-ray1.80C/F209-217[»]
1TVHX-ray1.80C/F209-217[»]
3CC5X-ray1.91C/F25-33[»]
4IS6X-ray2.50C44-59[»]
ProteinModelPortaliP40967.
SMRiP40967. Positions 232-296.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP40967.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini255 – 29238PKDPROSITE-ProRule annotationAdd
BLAST
Repeati315 – 327131Add
BLAST
Repeati328 – 340132Add
BLAST
Repeati341 – 353133Add
BLAST
Repeati354 – 366134Add
BLAST
Repeati367 – 379135Add
BLAST
Repeati380 – 392136Add
BLAST
Repeati393 – 405137Add
BLAST
Repeati406 – 418138Add
BLAST
Repeati419 – 431139Add
BLAST
Repeati432 – 4441310Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni315 – 44413010 X 13 AA approximate tandem repeats, RPT domainAdd
BLAST

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

Sequence similaritiesi

Belongs to the PMEL/NMB family.Curated
Contains 1 PKD domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39434.
GeneTreeiENSGT00530000063573.
HOVERGENiHBG099694.
InParanoidiP40967.
KOiK17304.
OMAiIYRRRLM.
OrthoDBiEOG7DFXBP.
PhylomeDBiP40967.
TreeFamiTF334865.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
InterProiIPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
[Graphical view]
PfamiPF00801. PKD. 1 hit.
[Graphical view]
SMARTiSM00089. PKD. 1 hit.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P40967-1) [UniParc]FASTAAdd to Basket

Also known as: Intermediate form, Pmel17-i

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAA35930.1 differs from that shown. Reason: Frameshift at position 642. Curated
The sequence AAA35930.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti162 – 1621V → F no nucleotide entry (PubMed:8022805)Curated
Sequence conflicti274 – 2741L → P in AAA60121. (PubMed:1924386)Curated
Sequence conflicti274 – 2741L → P in AAB19181. (PubMed:8739560)Curated
Sequence conflicti373 – 3731G → S in BAH13223. (PubMed:14702039)Curated
Sequence conflicti592 – 5921G → GG AA sequence (PubMed:8179825)Curated
Sequence conflicti597 – 5971P → R in AAA60121. (PubMed:1924386)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti320 – 3201P → H.
Corresponds to variant rs2071024 [ dbSNP | Ensembl ].
VAR_050606
Natural varianti370 – 3701E → D.
Corresponds to variant rs17118154 [ dbSNP | Ensembl ].
VAR_050607

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei26 – 11186Missing in isoform 3. 1 PublicationVSP_038266Add
BLAST
Alternative sequencei373 – 41442Missing in isoform 4 and isoform 5. CuratedVSP_038267Add
BLAST
Alternative sequencei587 – 5871P → PVPGILLT in isoform 2 and isoform 5. 1 PublicationVSP_038268

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
, U31808, U31807, U31797, 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_008859.1. NM_006928.4. [P40967-1]
XP_006719632.1. XM_006719569.1. [P40967-1]
UniGeneiHs.95972.

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.3. human. [P40967-1]
uc001siq.3. human. [P40967-2]
uc010spx.2. human. [P40967-3]

Polymorphism databases

DMDMi2507099.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
, U31808 , U31807 , U31797 , 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 .
CCDSi CCDS55833.1. [P40967-3 ]
CCDS55834.1. [P40967-2 ]
CCDS8897.1. [P40967-1 ]
PIRi A41234.
I38400.
RefSeqi NP_001186982.1. NM_001200053.1. [P40967-3 ]
NP_001186983.1. NM_001200054.1. [P40967-2 ]
NP_008859.1. NM_006928.4. [P40967-1 ]
XP_006719632.1. XM_006719569.1. [P40967-1 ]
UniGenei Hs.95972.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1TVB X-ray 1.80 C/F 209-217 [» ]
1TVH X-ray 1.80 C/F 209-217 [» ]
3CC5 X-ray 1.91 C/F 25-33 [» ]
4IS6 X-ray 2.50 C 44-59 [» ]
ProteinModelPortali P40967.
SMRi P40967. Positions 232-296.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-48937N.
MINTi MINT-4723252.

PTM databases

PhosphoSitei P40967.

Polymorphism databases

DMDMi 2507099.

Proteomic databases

PaxDbi P40967.
PRIDEi P40967.

Protocols and materials databases

DNASUi 6490.
Structural Biology Knowledgebase Search...

Genome annotation databases

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 ]
GeneIDi 6490.
KEGGi hsa:6490.
UCSCi uc001sip.3. human. [P40967-1 ]
uc001siq.3. human. [P40967-2 ]
uc010spx.2. human. [P40967-3 ]

Organism-specific databases

CTDi 6490.
GeneCardsi GC12M056352.
HGNCi HGNC:10880. PMEL.
HPAi HPA001337.
MIMi 155550. gene.
neXtProti NX_P40967.
PharmGKBi PA35781.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39434.
GeneTreei ENSGT00530000063573.
HOVERGENi HBG099694.
InParanoidi P40967.
KOi K17304.
OMAi IYRRRLM.
OrthoDBi EOG7DFXBP.
PhylomeDBi P40967.
TreeFami TF334865.

Miscellaneous databases

ChiTaRSi PMEL. human.
EvolutionaryTracei P40967.
GeneWikii PMEL_(gene).
GenomeRNAii 6490.
NextBioi 25221.
PROi P40967.
SOURCEi Search...

Gene expression databases

Bgeei P40967.
CleanExi HS_SILV.
ExpressionAtlasi P40967. baseline and differential.
Genevestigatori P40967.

Family and domain databases

Gene3Di 2.60.40.670. 1 hit.
InterProi IPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
[Graphical view ]
Pfami PF00801. PKD. 1 hit.
[Graphical view ]
SMARTi SM00089. PKD. 1 hit.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 1 hit.
PROSITEi PS50093. PKD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12."
    Kwon B.S., Chintamaneni C., Kozak C.A., Copeland N.G., Gilbert D.J., Jenkins N.A., Barton D., Francke U., Kobayashi Y., Kim K.-K.
    Proc. Natl. Acad. Sci. U.S.A. 88:9228-9232(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Cloning and expression of the gene for the melanoma-associated ME20 antigen."
    Maresh G.A., Marken J.S., Neubauer M., Aruffo A., Hellstroem I., Hellstroem K.E., Marquardt H.
    DNA Cell Biol. 13:87-95(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 25-53.
  3. "Molecular characterization of the melanocyte lineage-specific antigen gp100."
    Adema G.J., de Boer A.J., Vogel A.M., Loenen W.A., Figdor C.G.
    J. Biol. Chem. 269:20126-20133(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. "Identification of a human melanoma antigen recognized by tumor-infiltrating lymphocytes associated with in vivo tumor rejection."
    Kawakami Y., Eliyahu S., Delgado C.H., Robbins P.F., Sakaguchi K., Appella E., Yannelli J.R., Adema G.J., Miki T., Rosenberg S.A.
    Proc. Natl. Acad. Sci. U.S.A. 91:6458-6462(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. "Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus."
    Bailin T., Lee S.-T., Spritz R.A.
    J. Invest. Dermatol. 106:24-27(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
  6. "Genomic organization and FISH mapping of human Pmel 17, the putative silver locus."
    Kim K.K., Youn B.S., Heng H.H.Q., Shi X.-M., Tsui L.-C., Lee Z.H., Pickard R.T., Kwon B.S.
    Pigment Cell Res. 9:42-48(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
  7. "Sequence of a melanocyte specific secreted glycoprotein."
    Vogel A.
    Submitted (NOV-1990) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  8. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  9. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Placenta and Spleen.
  10. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  12. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  13. "A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats."
    Nichols S.E., Harper D.C., Berson J.F., Marks M.S.
    J. Invest. Dermatol. 121:821-830(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 4 AND 5).
  14. "Pmel17 initiates premelanosome morphogenesis within multivesicular bodies."
    Berson J.F., Harper D.C., Tenza D., Raposo G., Marks M.S.
    Mol. Biol. Cell 12:3451-3464(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING, SUBUNIT, FUNCTION, GLYCOSYLATION.
  15. "Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis."
    Berson J.F., Theos A.C., Harper D.C., Tenza D., Raposo G., Marks M.S.
    J. Cell Biol. 161:521-533(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING, MUTAGENESIS OF 468-LYS--ARG-469.
  16. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  17. "Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment."
    Yasumoto K.-I., Watabe H., Valencia J.C., Kushimoto T., Kobayashi T., Appella E., Hearing V.J.
    J. Biol. Chem. 279:28330-28338(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING, GLYCOSYLATION.
  18. "MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes."
    Hoashi T., Watabe H., Muller J., Yamaguchi Y., Vieira W.D., Hearing V.J.
    J. Biol. Chem. 280:14006-14016(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING, SUBCELLULAR LOCATION, INTERACTION WITH MLANA.
  19. "The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers."
    Hoashi T., Muller J., Vieira W.D., Rouzaud F., Kikuchi K., Tamaki K., Hearing V.J.
    J. Biol. Chem. 281:21198-21208(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: DOMAIN RPT, DOMAIN LUMENAL.
  20. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  21. "Premelanosome amyloid-like fibrils are composed of only Golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes."
    Harper D.C., Theos A.C., Herman K.E., Tenza D., Raposo G., Marks M.S.
    J. Biol. Chem. 283:2307-2322(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING, GLYCOSYLATION.
  22. "The tetraspanin CD63 regulates ESCRT-independent and -dependent endosomal sorting during melanogenesis."
    van Niel G., Charrin S., Simoes S., Romao M., Rochin L., Saftig P., Marks M.S., Rubinstein E., Raposo G.
    Dev. Cell 21:708-721(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CD63.

Entry informationi

Entry nameiPMEL_HUMAN
AccessioniPrimary (citable) accession number: P40967
Secondary accession number(s): B3KS57
, B7Z6D7, Q12763, Q14448, Q14817, Q16565
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 1, 1997
Last modified: October 29, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

External Data

Dasty 3