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Melanocyte protein PMEL (115 kDa melanosomal matrix protein) (Melanocyte protein Pmel 17) (Premelanosome protein) (Silver locus protein homolog)

 PMEL_CHICK              Reviewed;         763 AA.
Q98917; Q6DW60; Q6DW61; Q6DW62; Q6DW63; Q6DW64; Q6DW65;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
24-MAY-2005, sequence version 3.
25-OCT-2017, entry version 91.
RecName: Full=Melanocyte protein PMEL;
AltName: Full=115 kDa melanosomal matrix protein;
AltName: Full=Melanocyte protein Pmel 17;
AltName: Full=Premelanosome protein;
AltName: Full=Silver locus protein homolog;
Flags: Precursor;
Name=PMEL; Synonyms=MMP115, PMEL17, SILV;
Gallus gallus (Chicken).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes;
Phasianidae; Phasianinae; Gallus.
NCBI_TaxID=9031;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
STRAIN=White leghorn; TISSUE=Retinal pigment epithelium;
PubMed=1924173; DOI=10.1111/j.1600-0749.1991.tb00312.x;
Mochii M., Agata K., Eguchi G.;
"Complete sequence and expression of a cDNA encoding a chicken 115-kDa
melanosomal matrix protein.";
Pigment Cell Res. 4:41-47(1991).
[2]
SEQUENCE REVISION TO 383-384 AND 679-758.
Mochii M., Agata K., Eguchi G., Zhong J., Kuliawat R.;
Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
STRAIN=Black Langshan, Broiler, Dun, Red jungle fowl, Smoky, and
White leghorn;
PubMed=15579702; DOI=10.1534/genetics.104.027995;
Kerje S., Sharma P., Gunnarsson U., Kim H., Bagchi S., Fredriksson R.,
Schuetz K., Jensen P., von Heijne G., Okimoto R., Andersson L.;
"The Dominant white, Dun and Smoky color variants in chicken are
associated with insertion/deletion polymorphisms in the PMEL17 gene.";
Genetics 168:1507-1518(2004).
[4]
CHARACTERIZATION.
STRAIN=White leghorn; TISSUE=Retinal pigment epithelium;
PubMed=3409326; DOI=10.1016/0045-6039(88)90087-5;
Mochii M., Agata K., Kobayashi H., Yamamoto T.S., Eguchi G.;
"Expression of gene coding for a melanosomal matrix protein
transcriptionally regulated in the transdifferentiation of chick
embryo pigmented epithelial cells.";
Cell Differ. 24:67-74(1988).
-!- FUNCTION: Might be required for polymerization of melanin onto the
core structure of melanosomes with enzymic function of tyrosinase.
-!- SUBCELLULAR LOCATION: Melanosome lumen. Note=On the fibrous matrix
structure of the premelanosome.
-!- TISSUE SPECIFICITY: Specific to pigmented epithelial cells and
melanocytes. Not expressed in lens, neural retina, brain, heart,
gizzard or liver.
-!- DEVELOPMENTAL STAGE: Expressed during the redifferentiation of
pigmented epithelial cells (PEC).
-!- PTM: Glycosylated.
-!- POLYMORPHISM: Mutations in PMEL cause the Dominant white, Dun and
Smoky plumage phenotypes in chicken. Both Dominant white and Dun
inhibit the expression of black eumelanin giving rise to white
plumage while Smoky gives a gray phenotype. The Dominant white
phenotype is a breed characteristic of the White leghorn strain.
-!- SIMILARITY: Belongs to the PMEL/NMB family. {ECO:0000305}.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; D88348; BAA13589.2; -; mRNA.
EMBL; AY636124; AAT58245.1; -; Genomic_DNA.
EMBL; AY636125; AAT58246.1; -; Genomic_DNA.
EMBL; AY636126; AAT58247.1; -; Genomic_DNA.
EMBL; AY636127; AAT58248.1; -; Genomic_DNA.
EMBL; AY636128; AAT58249.1; -; Genomic_DNA.
EMBL; AY636129; AAT58250.1; -; Genomic_DNA.
RefSeq; NP_990443.2; NM_205112.2.
UniGene; Gga.592; -.
ProteinModelPortal; Q98917; -.
STRING; 9031.ENSGALP00000023540; -.
PaxDb; Q98917; -.
GeneID; 396007; -.
KEGG; gga:396007; -.
CTD; 6490; -.
eggNOG; ENOG410IHN4; Eukaryota.
eggNOG; ENOG410Z44K; LUCA.
HOVERGEN; HBG099694; -.
InParanoid; Q98917; -.
KO; K17304; -.
PhylomeDB; Q98917; -.
PRO; PR:Q98917; -.
Proteomes; UP000000539; Unplaced.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0042470; C:melanosome; IMP:AgBase.
GO; GO:0034493; C:melanosome lumen; IEA:UniProtKB-SubCell.
GO; GO:0048066; P:developmental pigmentation; IBA:GO_Central.
GO; GO:0032438; P:melanosome organization; IBA:GO_Central.
Gene3D; 2.60.40.10; -; 1.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR022409; PKD/Chitinase_dom.
InterPro; IPR000601; PKD_dom.
InterPro; IPR035986; PKD_dom_sf.
Pfam; PF00801; PKD; 1.
SMART; SM00089; PKD; 1.
SUPFAM; SSF49299; SSF49299; 1.
PROSITE; PS50093; PKD; 1.
1: Evidence at protein level;
Complete proteome; Glycoprotein; Reference proteome; Repeat; Signal.
SIGNAL 1 19 {ECO:0000255}.
CHAIN 20 763 Melanocyte protein PMEL.
/FTId=PRO_0000024714.
DOMAIN 223 323 PKD. {ECO:0000255|PROSITE-
ProRule:PRU00151}.
REPEAT 441 464 1.
REPEAT 465 488 2.
REPEAT 489 508 3; approximate.
REPEAT 509 532 4.
REGION 441 532 4 X 24 AA approximate tandem repeats of
T-[AD]-[EG]-D-[AV]-[AV]-[AG]-[AP]-T-[AP]-
[AG]-A-T-A-[AE]-[DS]-[IV]-A-[DV]-[DP]-T-
A-G-A.
CARBOHYD 111 111 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 115 115 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 346 346 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 651 651 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 659 659 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 34 34 S -> P (in strain: Black Langshan).
VARIANT 35 35 A -> V (in strain: Dun).
VARIANT 96 96 G -> S (in strain: Dun).
VARIANT 232 232 A -> V (in strain: Broiler).
VARIANT 280 283 Missing (in strain: Smoky).
VARIANT 399 399 D -> N (in strain: Dun and Red jungle
fowl).
VARIANT 495 495 G -> GPTAA (in strain: Broiler).
VARIANT 495 495 G -> GPTAAATAESIADPTAGATDGDAVGPTAA (in
strain: Dun and Red jungle fowl).
VARIANT 505 506 TA -> IV (in strain: Broiler, Dun and Red
jungle fowl).
VARIANT 558 558 E -> K (in strain: Broiler).
VARIANT 695 697 Missing (in strain: Black Langshan,
Broiler, Dun and Red jungle fowl).
VARIANT 701 705 Missing (in strain: Dun).
VARIANT 712 712 R -> C (in strain: Dun).
CONFLICT 699 699 I -> M (in Ref. 2; BAA13589).
{ECO:0000305}.
SEQUENCE 763 AA; 77038 MW; A40341F69FD2C2BB CRC64;
MRLHGAIVLL AALLALVTAQ QRGGGRSRGG VKGSAWGGRP APFRSWDTAR YRPWQEGTAR
QNDCWRGGDV TFDISNDAPT LVGARATFSI ALRFPGTQTV LPDGRVVWSQ NCTVNGTRML
QGDPVYPEQL AEGSDGVFPD GQPFPRSAWG KRGRFVYVWW TWGRYWQVVD GATSQLTVGT
DGVALGSYTM EVVVYHYRGR QRFIPIGHAS TQFSITDQVP IAVDVTQLEV AAGDGGSFVR
NRPVAFNVRL HDPSHYLRDA DISYSWDFGD QSGTLISRSP TVTHTYLQAG SFAARLVLQA
AIPLSSCGTS APPVVDPTTG PVPSLGPTAT QPVGPTGSGT ATAPSNLTGS GTAAAPGTTA
APRASGAPAE PTGVSVAVLS DSAATEPLPD PVLSTAVADA AAGTDPTADP LPPTSVSSGG
DAPGTVAPTA VEGSVAAGVG TAEDVAAATP GATAADVAVD TAGATDGDAV GPTAAATAES
IADPTAGATD GDAVGATAES IADPTAGATD GDAVGPTAAA TAESIADPTA GATAVSSGSA
TAGATAEPLL LVKRQAPEAE PTGCVLYRYG TFSTELNIVQ GIESVAIVQV VPAAPEGSGN
SVELTVTCEG SLPEEVCTVV ADAECRTAQM QTCSAVAPAP GCQLVLRQDF NQSGLYCLNV
SLANGNGLAV ASTHVAVGGA SPAASGTTLT VGLLWAPLIA AALGTAAYTY RRVKYSPLLP
TAPTAPRPHS WLPPGATLRL LLRQAFGGAP SGESSPLLRA NAV


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