P40967 (PMEL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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:

1. M-alpha
   Alternative name(s):
   95 kDa melanocyte-specific secreted glycoprotein
   P26
   Secreted melanoma-associated ME20 antigen
   Short name=ME20-S
   Short name=ME20S
2. M-beta

Gene names

Name:	PMEL
Synonyms:	D12S53E, PMEL17, SILV

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	661 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.14
Subunit structure	Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta. Interacts with MLANA. Ref.14 Ref.18
Subcellular location	Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus. Melanosome. Endosome › multivesicular 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. Ref.14 Ref.16 Ref.18 Ref.20 M-alpha: Secreted Ref.14 Ref.16 Ref.18 Ref.20.
Tissue specificity	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.
Domain	The RPT domain is essential for the generation of the fibrillar matrix of melanosomes. Ref.19 The lumenal domain is necessary for correct processing and trafficking to melanosomes. Ref.19
Post-translational modification	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. Ref.14 Ref.15 Ref.17 Ref.18 Ref.21 N-glycosylated. O-glycosylated; contains sialic acid. Ref.14 Ref.17 Ref.21
Sequence similarities	Belongs to the PMEL/NMB family. Contains 1 PKD domain.
Sequence caution	The sequence AAA35930.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAA35930.1 differs from that shown. Reason: Frameshift at position 642.

Ontologies

Keywords
Biological process	Melanin biosynthesis
Cellular component	Endoplasmic reticulum Endosome Golgi apparatus Membrane Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Sialic acid
PTM	Cleavage on pair of basic residues Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	melanin biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW melanosome organization Inferred from direct assay Ref.14. Source: UniProtKB
Cellular component	Golgi apparatus Inferred from direct assay Ref.18. Source: UniProtKB endoplasmic reticulum membrane Inferred from direct assay Ref.18. Source: UniProtKB extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW melanosome Inferred from direct assay Ref.17Ref.18. Source: UniProtKB multivesicular body membrane Inferred from direct assay Ref.14. Source: UniProtKB plasma membrane Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction Ref.18. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P40967-1)

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.

Isoform 2 (identifier: P40967-2)

Also known as: Long form; Pmel17-l;

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

Isoform 3 (identifier: P40967-3)

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

Isoform 4 (identifier: P40967-4)

Also known as: Short form; Pmel17-ls;

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

Isoform 5 (identifier: P40967-5)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Ref.2
	Chain	25 – 661	637	Melanocyte protein PMEL		PRO_0000024712
	Chain	25 – 467	443	M-alpha		PRO_0000292263
	Chain	470 – 661	192	M-beta		PRO_0000386648
Regions
	Topological domain	470 – 595	126	Lumenal Potential
	Transmembrane	596 – 616	21	Helical; Potential
	Topological domain	617 – 661	45	Cytoplasmic Potential
	Domain	255 – 292	38	PKD
	Repeat	315 – 327	13	1
	Repeat	328 – 340	13	2
	Repeat	341 – 353	13	3
	Repeat	354 – 366	13	4
	Repeat	367 – 379	13	5
	Repeat	380 – 392	13	6
	Repeat	393 – 405	13	7
	Repeat	406 – 418	13	8
	Repeat	419 – 431	13	9
	Repeat	432 – 444	13	10
	Region	315 – 444	130	10 X 13 AA approximate tandem repeats, RPT domain
Amino acid modifications
	Glycosylation	81	1	N-linked (GlcNAc...) Potential
	Glycosylation	106	1	N-linked (GlcNAc...) Potential
	Glycosylation	111	1	N-linked (GlcNAc...) Potential
	Glycosylation	321	1	N-linked (GlcNAc...) Potential
	Glycosylation	568	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	26 – 111	86	Missing in isoform 3.		VSP_038266
	Alternative sequence	373 – 414	42	Missing in isoform 4 and isoform 5.		VSP_038267
	Alternative sequence	587	1	P → PVPGILLT in isoform 2 and isoform 5.		VSP_038268
	Natural variant	320	1	P → H. Corresponds to variant rs2071024 [ dbSNP | Ensembl ].		VAR_050606
	Natural variant	370	1	E → D. Corresponds to variant rs17118154 [ dbSNP | Ensembl ].		VAR_050607
Experimental info
	Mutagenesis	468 – 469	2	KR → QQ: Loss of proteolytic cleavage. Ref.15
	Sequence conflict	162	1	V → F no nucleotide entry Ref.4
	Sequence conflict	274	1	L → P in AAA60121. Ref.1
	Sequence conflict	274	1	L → P in AAB19181. Ref.6
	Sequence conflict	373	1	G → S in BAH13223. Ref.9
	Sequence conflict	592	1	G → GG AA sequence Ref.2
	Sequence conflict	597	1	P → R in AAA60121. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Intermediate form) (Pmel17-i) [UniParc]. Last modified November 1, 1997. Version 2. Checksum: 8A904FAB16715653	FASTA	661	70,255
	10 20 30 40 50 60 MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP EWTEAQRLDC 70 80 90 100 110 120 WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG QVIWVNNTII NGSQVWGGQP 130 140 150 160 170 180 VYPQETDDAC IFPDGGPCPS GSWSQKRSFV YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG 190 200 210 220 230 240 THTMEVTVYH RRGSRSYVPL AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF 250 260 270 280 290 300 ALQLHDPSGY LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS 310 320 330 340 350 360 CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS VQVPTTEVIS 370 380 390 400 410 420 TAPVQMPTAE STGMTPEKVP VSEVMGTTLA EMSTPEATGM TPAEVSIVVL SGTTAAQVTT 430 440 450 460 470 480 TEWVETTARE LPIPEPEGPD ASSIMSTESI TGSLGPLLDG TATLRLVKRQ VPLDCVLYRY 490 500 510 520 530 540 GSFSVTLDIV QGIESAEILQ AVPSGEGDAF ELTVSCQGGL PKEACMEISS PGCQPPAQRL 550 560 570 580 590 600 CQPVLPSPAC QLVLHQILKG GSGTYCLNVS LADTNSLAVV STQLIMPGQE AGLGQVPLIV 610 620 630 640 650 660 GILLVLMAVV LASLIYRRRL MKQDFSVPQL PHSSSHWLRL PRIFCSCPIG ENSPLLSGQQ V
	Isoform 2 (Long form) (Pmel17-l) [UniParc]. Checksum: CF204FFB7E026791	FASTA	668	70,949
	10 20 30 40 50 60 MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP EWTEAQRLDC 70 80 90 100 110 120 WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG QVIWVNNTII NGSQVWGGQP 130 140 150 160 170 180 VYPQETDDAC IFPDGGPCPS GSWSQKRSFV YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG 190 200 210 220 230 240 THTMEVTVYH RRGSRSYVPL AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF 250 260 270 280 290 300 ALQLHDPSGY LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS 310 320 330 340 350 360 CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS VQVPTTEVIS 370 380 390 400 410 420 TAPVQMPTAE STGMTPEKVP VSEVMGTTLA EMSTPEATGM TPAEVSIVVL SGTTAAQVTT 430 440 450 460 470 480 TEWVETTARE LPIPEPEGPD ASSIMSTESI TGSLGPLLDG TATLRLVKRQ VPLDCVLYRY 490 500 510 520 530 540 GSFSVTLDIV QGIESAEILQ AVPSGEGDAF ELTVSCQGGL PKEACMEISS PGCQPPAQRL 550 560 570 580 590 600 CQPVLPSPAC QLVLHQILKG GSGTYCLNVS LADTNSLAVV STQLIMPVPG ILLTGQEAGL 610 620 630 640 650 660 GQVPLIVGIL LVLMAVVLAS LIYRRRLMKQ DFSVPQLPHS SSHWLRLPRI FCSCPIGENS PLLSGQQV
	Isoform 3 [UniParc]. Checksum: 2D84400CD1A8FE4E	FASTA	575	60,581
	10 20 30 40 50 60 MDLVLKRCLL HLAVIGALLA VGATKGSQVW GGQPVYPQET DDACIFPDGG PCPSGSWSQK 70 80 90 100 110 120 RSFVYVWKTW GQYWQVLGGP VSGLSIGTGR AMLGTHTMEV TVYHRRGSRS YVPLAHSSSA 130 140 150 160 170 180 FTITDQVPFS VSVSQLRALD GGNKHFLRNQ PLTFALQLHD PSGYLAEADL SYTWDFGDSS 190 200 210 220 230 240 GTLISRALVV THTYLEPGPV TAQVVLQAAI PLTSCGSSPV PGTTDGHRPT AEAPNTTAGQ 250 260 270 280 290 300 VPTTEVVGTT PGQAPTAEPS GTTSVQVPTT EVISTAPVQM PTAESTGMTP EKVPVSEVMG 310 320 330 340 350 360 TTLAEMSTPE ATGMTPAEVS IVVLSGTTAA QVTTTEWVET TARELPIPEP EGPDASSIMS 370 380 390 400 410 420 TESITGSLGP LLDGTATLRL VKRQVPLDCV LYRYGSFSVT LDIVQGIESA EILQAVPSGE 430 440 450 460 470 480 GDAFELTVSC QGGLPKEACM EISSPGCQPP AQRLCQPVLP SPACQLVLHQ ILKGGSGTYC 490 500 510 520 530 540 LNVSLADTNS LAVVSTQLIM PGQEAGLGQV PLIVGILLVL MAVVLASLIY RRRLMKQDFS 550 560 570 VPQLPHSSSH WLRLPRIFCS CPIGENSPLL SGQQV
	Isoform 4 (Short form) (Pmel17-ls) [UniParc]. Checksum: CAE0E8B0EF10550B	FASTA	619	66,035
	10 20 30 40 50 60 MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP EWTEAQRLDC 70 80 90 100 110 120 WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG QVIWVNNTII NGSQVWGGQP 130 140 150 160 170 180 VYPQETDDAC IFPDGGPCPS GSWSQKRSFV YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG 190 200 210 220 230 240 THTMEVTVYH RRGSRSYVPL AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF 250 260 270 280 290 300 ALQLHDPSGY LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS 310 320 330 340 350 360 CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS VQVPTTEVIS 370 380 390 400 410 420 TAPVQMPTAE STAAQVTTTE WVETTARELP IPEPEGPDAS SIMSTESITG SLGPLLDGTA 430 440 450 460 470 480 TLRLVKRQVP LDCVLYRYGS FSVTLDIVQG IESAEILQAV PSGEGDAFEL TVSCQGGLPK 490 500 510 520 530 540 EACMEISSPG CQPPAQRLCQ PVLPSPACQL VLHQILKGGS GTYCLNVSLA DTNSLAVVST 550 560 570 580 590 600 QLIMPGQEAG LGQVPLIVGI LLVLMAVVLA SLIYRRRLMK QDFSVPQLPH SSSHWLRLPR 610 IFCSCPIGEN SPLLSGQQV
	Isoform 5 (Short form) (Pmel17-is) [UniParc]. Checksum: 8ECA4B3E15B0CD51	FASTA	626	66,729
	10 20 30 40 50 60 MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP EWTEAQRLDC 70 80 90 100 110 120 WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG QVIWVNNTII NGSQVWGGQP 130 140 150 160 170 180 VYPQETDDAC IFPDGGPCPS GSWSQKRSFV YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG 190 200 210 220 230 240 THTMEVTVYH RRGSRSYVPL AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF 250 260 270 280 290 300 ALQLHDPSGY LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS 310 320 330 340 350 360 CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS VQVPTTEVIS 370 380 390 400 410 420 TAPVQMPTAE STAAQVTTTE WVETTARELP IPEPEGPDAS SIMSTESITG SLGPLLDGTA 430 440 450 460 470 480 TLRLVKRQVP LDCVLYRYGS FSVTLDIVQG IESAEILQAV PSGEGDAFEL TVSCQGGLPK 490 500 510 520 530 540 EACMEISSPG CQPPAQRLCQ PVLPSPACQL VLHQILKGGS GTYCLNVSLA DTNSLAVVST 550 560 570 580 590 600 QLIMPVPGIL LTGQEAGLGQ VPLIVGILLV LMAVVLASLI YRRRLMKQDF SVPQLPHSSS 610 620 HWLRLPRIFC SCPIGENSPL LSGQQV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 1924386] [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: 8179825] [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: 7519602] [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: 8022805] [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: 8592076] [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: 8739560] [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: 14702039] [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: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 14632201] [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: 11694580] [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: 12732614] [Abstract] Cited for: PROTEOLYTIC PROCESSING, MUTAGENESIS OF 468-LYS--ARG-469.
[16]	"Proteomic analysis of early melanosomes: identification of novel melanosomal proteins." Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E. J. Proteome Res. 2:69-79(2003) [PubMed: 12643545] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. 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: 15096515] [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: 15695812] [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: 16682408] [Abstract] Cited for: DOMAIN RPT, DOMAIN LUMENAL.
[20]	"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed: 17081065] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. 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: 17991747] [Abstract] Cited for: PROTEOLYTIC PROCESSING, GLYCOSYLATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00031630.
IPI00795159.
IPI00797732.
IPI00952617.
IPI00952781.

PIR

A41234.
I38400.

RefSeq

NP_001186982.1. NM_001200053.1.
NP_001186983.1. NM_001200054.1.
NP_008859.1. NM_006928.4.

UniGene

Hs.95972.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1TVB	X-ray	1.80	C/F	209-217	[»]
1TVH	X-ray	1.80	C/F	211-217	[»]
3CC5	X-ray	1.91	C/F	25-33	[»]

ProteinModelPortal

P40967.

SMR

P40967. Positions 230-296.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-48937N.

STRING

P40967.

PTM databases

PhosphoSite

P40967.

Polymorphism databases

DMDM

2507099.

Proteomic databases

PRIDE

P40967.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000360714; ENSP00000353940; ENSG00000185664.
ENST00000449260; ENSP00000402758; ENSG00000185664.

GeneID

6490.

KEGG

hsa:6490.

UCSC

uc001sip.1. human.

Organism-specific databases

CTD

6490.

GeneCards

GC12M056350.

H-InvDB

HIX0018537.

HGNC

HGNC:10880. PMEL.

HPA

HPA001337.

MIM

155550. gene.

neXtProt

NX_P40967.

PharmGKB

PA35781.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG17121.

GeneTree

ENSGT00530000063573.

HOGENOM

HBG713300.

HOVERGEN

HBG099694.

InParanoid

P40967.

OMA

VYVWKTW.

OrthoDB

EOG4DBTDD.

Gene expression databases

ArrayExpress

P40967.

Bgee

P40967.

CleanEx

HS_SILV.

Genevestigator

P40967.

GermOnline

ENSG00000185664. Homo sapiens.

Family and domain databases

InterPro

IPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
[Graphical view]

Gene3D

G3DSA:2.60.40.670. PKD. 1 hit.

Pfam

PF00801. PKD. 1 hit.
[Graphical view]

SMART

SM00089. PKD. 1 hit.
[Graphical view]

PROSITE

PS50093. PKD. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

25221.

SOURCE

Search...

Entry information

Entry name

PMEL_HUMAN

Accession

Primary (citable) accession number: P40967
Secondary accession number(s): B3KS57 , B7Z6D7, Q12763, Q14448, Q14817, Q16565

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	November 1, 1997
Last modified:	December 14, 2011
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.