PMEL_CHICK
ID PMEL_CHICK Reviewed; 763 AA.
AC Q98917; Q6DW60; Q6DW61; Q6DW62; Q6DW63; Q6DW64; Q6DW65;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2005, sequence version 3.
DT 03-AUG-2022, entry version 103.
DE RecName: Full=Melanocyte protein PMEL;
DE AltName: Full=115 kDa melanosomal matrix protein;
DE AltName: Full=Melanocyte protein Pmel 17;
DE AltName: Full=Premelanosome protein;
DE AltName: Full=Silver locus protein homolog;
DE Flags: Precursor;
GN Name=PMEL; Synonyms=MMP115, PMEL17, SILV;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=White leghorn; TISSUE=Retinal pigment epithelium;
RX PubMed=1924173; DOI=10.1111/j.1600-0749.1991.tb00312.x;
RA Mochii M., Agata K., Eguchi G.;
RT "Complete sequence and expression of a cDNA encoding a chicken 115-kDa
RT melanosomal matrix protein.";
RL Pigment Cell Res. 4:41-47(1991).
RN [2]
RP SEQUENCE REVISION TO 383-384 AND 679-758.
RA Mochii M., Agata K., Eguchi G., Zhong J., Kuliawat R.;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC STRAIN=Black Langshan, Broiler, Dun, Red jungle fowl, Smoky, and
RC White leghorn;
RX PubMed=15579702; DOI=10.1534/genetics.104.027995;
RA Kerje S., Sharma P., Gunnarsson U., Kim H., Bagchi S., Fredriksson R.,
RA Schuetz K., Jensen P., von Heijne G., Okimoto R., Andersson L.;
RT "The Dominant white, Dun and Smoky color variants in chicken are associated
RT with insertion/deletion polymorphisms in the PMEL17 gene.";
RL Genetics 168:1507-1518(2004).
RN [4]
RP CHARACTERIZATION.
RC STRAIN=White leghorn; TISSUE=Retinal pigment epithelium;
RX PubMed=3409326; DOI=10.1016/0045-6039(88)90087-5;
RA Mochii M., Agata K., Kobayashi H., Yamamoto T.S., Eguchi G.;
RT "Expression of gene coding for a melanosomal matrix protein
RT transcriptionally regulated in the transdifferentiation of chick embryo
RT pigmented epithelial cells.";
RL Cell Differ. 24:67-74(1988).
CC -!- FUNCTION: Might be required for polymerization of melanin onto the core
CC structure of melanosomes with enzymatic function of tyrosinase.
CC -!- SUBCELLULAR LOCATION: Melanosome lumen. Note=On the fibrous matrix
CC structure of the premelanosome.
CC -!- TISSUE SPECIFICITY: Specific to pigmented epithelial cells and
CC melanocytes. Not expressed in lens, neural retina, brain, heart,
CC gizzard or liver.
CC -!- DEVELOPMENTAL STAGE: Expressed during the redifferentiation of
CC pigmented epithelial cells (PEC).
CC -!- PTM: Glycosylated.
CC -!- POLYMORPHISM: Mutations in PMEL cause the Dominant white, Dun and Smoky
CC plumage phenotypes in chicken. Both Dominant white and Dun inhibit the
CC expression of black eumelanin giving rise to white plumage while Smoky
CC gives a gray phenotype. The Dominant white phenotype is a breed
CC characteristic of the White leghorn strain.
CC -!- SIMILARITY: Belongs to the PMEL/NMB family. {ECO:0000305}.
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DR EMBL; D88348; BAA13589.2; -; mRNA.
DR EMBL; AY636124; AAT58245.1; -; Genomic_DNA.
DR EMBL; AY636125; AAT58246.1; -; Genomic_DNA.
DR EMBL; AY636126; AAT58247.1; -; Genomic_DNA.
DR EMBL; AY636127; AAT58248.1; -; Genomic_DNA.
DR EMBL; AY636128; AAT58249.1; -; Genomic_DNA.
DR EMBL; AY636129; AAT58250.1; -; Genomic_DNA.
DR RefSeq; NP_990443.2; NM_205112.2.
DR AlphaFoldDB; Q98917; -.
DR STRING; 9031.ENSGALP00000023540; -.
DR PaxDb; Q98917; -.
DR GeneID; 396007; -.
DR KEGG; gga:396007; -.
DR CTD; 6490; -.
DR VEuPathDB; HostDB:geneid_396007; -.
DR eggNOG; ENOG502QV5K; Eukaryota.
DR InParanoid; Q98917; -.
DR OrthoDB; 393436at2759; -.
DR PhylomeDB; Q98917; -.
DR PRO; PR:Q98917; -.
DR Proteomes; UP000000539; Unplaced.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0042470; C:melanosome; IMP:AgBase.
DR GO; GO:0034493; C:melanosome lumen; IEA:UniProtKB-SubCell.
DR GO; GO:0032438; P:melanosome organization; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR045219; PKAT.
DR InterPro; IPR022409; PKD/Chitinase_dom.
DR InterPro; IPR000601; PKD_dom.
DR InterPro; IPR035986; PKD_dom_sf.
DR PANTHER; PTHR11861; PTHR11861; 1.
DR Pfam; PF00801; PKD; 1.
DR SMART; SM00089; PKD; 1.
DR SUPFAM; SSF49299; SSF49299; 1.
DR PROSITE; PS50093; PKD; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Reference proteome; Repeat; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..763
FT /note="Melanocyte protein PMEL"
FT /id="PRO_0000024714"
FT DOMAIN 223..323
FT /note="PKD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00151"
FT REPEAT 441..464
FT /note="1"
FT REPEAT 465..488
FT /note="2"
FT REPEAT 489..508
FT /note="3; approximate"
FT REPEAT 509..532
FT /note="4"
FT REGION 313..372
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 402..428
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 441..532
FT /note="4 X 24 AA approximate tandem repeats of T-[AD]-[EG]-
FT D-[AV]-[AV]-[AG]-[AP]-T-[AP]-[AG]-A-T-A-[AE]-[DS]-[IV]-A-
FT [DV]-[DP]-T-A-G-A"
FT COMPBIAS 323..355
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 111
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 115
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 346
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 651
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 659
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 34
FT /note="S -> P (in strain: Black Langshan)"
FT VARIANT 35
FT /note="A -> V (in strain: Dun)"
FT VARIANT 96
FT /note="G -> S (in strain: Dun)"
FT VARIANT 232
FT /note="A -> V (in strain: Broiler)"
FT VARIANT 280..283
FT /note="Missing (in strain: Smoky)"
FT VARIANT 399
FT /note="D -> N (in strain: Dun and Red jungle fowl)"
FT VARIANT 495
FT /note="G -> GPTAA (in strain: Broiler)"
FT VARIANT 495
FT /note="G -> GPTAAATAESIADPTAGATDGDAVGPTAA (in strain: Dun
FT and Red jungle fowl)"
FT VARIANT 505..506
FT /note="TA -> IV (in strain: Broiler, Dun and Red jungle
FT fowl)"
FT VARIANT 558
FT /note="E -> K (in strain: Broiler)"
FT VARIANT 695..697
FT /note="Missing (in strain: Black Langshan, Broiler, Dun and
FT Red jungle fowl)"
FT VARIANT 701..705
FT /note="Missing (in strain: Dun)"
FT VARIANT 712
FT /note="R -> C (in strain: Dun)"
FT CONFLICT 699
FT /note="I -> M (in Ref. 2; BAA13589)"
FT /evidence="ECO:0000305"
SQ 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
