HPS5_DROME
ID HPS5_DROME Reviewed; 826 AA.
AC Q9VHN9; Q8SXI1;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=BLOC-2 complex member HPS5 homolog {ECO:0000305};
DE AltName: Full=Hermansky-Pudlak syndrome 5 protein homolog;
DE AltName: Full=Protein pink;
DE AltName: Full=dHPS5;
GN Name=p {ECO:0000303|PubMed:17156100, ECO:0000303|PubMed:17632576};
GN Synonyms=HPS5 {ECO:0000303|PubMed:17156100}; ORFNames=CG9770;
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227;
RN [1] {ECO:0000312|EMBL:AAF54263.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley {ECO:0000269|PubMed:10731132};
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAF54263.1}
RP GENOME REANNOTATION.
RC STRAIN=Berkeley;
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [3] {ECO:0000312|EMBL:AAL90363.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Berkeley {ECO:0000312|EMBL:AAL90363.1};
RC TISSUE=Embryo {ECO:0000269|PubMed:12537569};
RX PubMed=12537569; DOI=10.1186/gb-2002-3-12-research0080;
RA Stapleton M., Carlson J.W., Brokstein P., Yu C., Champe M., George R.A.,
RA Guarin H., Kronmiller B., Pacleb J.M., Park S., Wan K.H., Rubin G.M.,
RA Celniker S.E.;
RT "A Drosophila full-length cDNA resource.";
RL Genome Biol. 3:RESEARCH0080.1-RESEARCH0080.8(2002).
RN [4] {ECO:0000305}
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=9714595; DOI=10.1016/s0962-8924(98)01270-7;
RA Lloyd V.K., Ramaswami M., Kramer H.;
RT "Not just pretty eyes: Drosophila eye-colour mutations and lysosomal
RT delivery.";
RL Trends Cell Biol. 8:257-259(1998).
RN [5] {ECO:0000305}
RP IDENTIFICATION.
RX PubMed=17632576; DOI=10.1139/g07-032;
RA Syrzycka M., McEachern L.A., Kinneard J., Prabhu K., Fitzpatrick K.,
RA Schulze S., Rawls J.M., Lloyd V.K., Sinclair D.A., Honda B.M.;
RT "The pink gene encodes the Drosophila orthologue of the human Hermansky-
RT Pudlak syndrome 5 (HPS5) gene.";
RL Genome 50:548-556(2007).
RN [6] {ECO:0000305}
RP DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=17156100; DOI=10.1111/j.1600-0854.2006.00514.x;
RA Falcon-Perez J.M., Romero-Calderon R., Brooks E.S., Krantz D.E.,
RA Dell'Angelica E.C.;
RT "The Drosophila pigmentation gene pink (p) encodes a homologue of human
RT Hermansky-Pudlak syndrome 5 (HPS5).";
RL Traffic 8:154-168(2007).
CC -!- FUNCTION: Has a role in the biogenesis of eye pigment granules. Eye
CC pigment granules are specialized forms of late endosomes or lysosomes.
CC Biogenesis of pigment granules in the eye requires molecular components
CC required for protein delivery to lysosomes.
CC {ECO:0000269|PubMed:9714595}.
CC -!- TISSUE SPECIFICITY: Expressed in eye pigment granules.
CC {ECO:0000269|PubMed:9714595}.
CC -!- DEVELOPMENTAL STAGE: Expressed throughout development, highest
CC expression being in adult heads. {ECO:0000269|PubMed:17156100}.
CC -!- DISRUPTION PHENOTYPE: Flies exhibit defects in vesicular transport to
CC lysosomes and therefore can alter eye color.
CC {ECO:0000269|PubMed:17156100}.
CC -!- MISCELLANEOUS: Pink was the second eye color gene identified by Morgan
CC and colleagues, mutant flies were isolated in June 1910 just 2 months
CC after isolation of the first white mutant allele. Another mutant allele
CC of pink, peach, was isolated by Bridges in 1913, and according to a
CC review published by Bridges and Morgan 10 years later, these alleles
CC represented the first case of multiple allelomorphs described for an
CC autosomal gene in Drosophila.
CC -!- SIMILARITY: Belongs to the HPS5 family. {ECO:0000305}.
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DR EMBL; AE014297; AAF54263.1; -; Genomic_DNA.
DR EMBL; AY089625; AAL90363.1; -; mRNA.
DR RefSeq; NP_001303455.1; NM_001316526.1.
DR RefSeq; NP_001303456.1; NM_001316527.1.
DR RefSeq; NP_649810.1; NM_141553.3.
DR AlphaFoldDB; Q9VHN9; -.
DR BioGRID; 66200; 7.
DR IntAct; Q9VHN9; 1.
DR STRING; 7227.FBpp0081373; -.
DR PaxDb; Q9VHN9; -.
DR PRIDE; Q9VHN9; -.
DR EnsemblMetazoa; FBtr0081887; FBpp0081373; FBgn0086679.
DR EnsemblMetazoa; FBtr0347576; FBpp0312607; FBgn0086679.
DR EnsemblMetazoa; FBtr0347577; FBpp0312608; FBgn0086679.
DR GeneID; 41025; -.
DR KEGG; dme:Dmel_CG9770; -.
DR CTD; 41025; -.
DR FlyBase; FBgn0086679; p.
DR VEuPathDB; VectorBase:FBgn0086679; -.
DR eggNOG; KOG3621; Eukaryota.
DR HOGENOM; CLU_302332_0_0_1; -.
DR InParanoid; Q9VHN9; -.
DR OMA; QPSRIYC; -.
DR OrthoDB; 416267at2759; -.
DR PhylomeDB; Q9VHN9; -.
DR BioGRID-ORCS; 41025; 0 hits in 1 CRISPR screen.
DR ChiTaRS; p; fly.
DR GenomeRNAi; 41025; -.
DR PRO; PR:Q9VHN9; -.
DR Proteomes; UP000000803; Chromosome 3R.
DR Bgee; FBgn0086679; Expressed in insect adult head and 12 other tissues.
DR ExpressionAtlas; Q9VHN9; baseline and differential.
DR Genevisible; Q9VHN9; DM.
DR GO; GO:0031084; C:BLOC-2 complex; ISS:FlyBase.
DR GO; GO:0005737; C:cytoplasm; IDA:FlyBase.
DR GO; GO:0031409; F:pigment binding; IEA:UniProtKB-KW.
DR GO; GO:0048072; P:compound eye pigmentation; IMP:FlyBase.
DR GO; GO:0048066; P:developmental pigmentation; IBA:GO_Central.
DR GO; GO:0006726; P:eye pigment biosynthetic process; IMP:UniProtKB.
DR GO; GO:1900369; P:negative regulation of post-transcriptional gene silencing by RNA; IMP:FlyBase.
DR GO; GO:0006727; P:ommochrome biosynthetic process; IMP:FlyBase.
DR GO; GO:0006622; P:protein targeting to lysosome; IMP:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR035431; HPS5.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR PIRSF; PIRSF037475; BLOC-2_complex_Hps5; 1.
PE 2: Evidence at transcript level;
KW Pigment; Reference proteome; Repeat; Sensory transduction; Vision;
KW WD repeat.
FT CHAIN 1..826
FT /note="BLOC-2 complex member HPS5 homolog"
FT /id="PRO_0000302764"
FT REPEAT 22..61
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 63..102
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 110..149
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REGION 422..447
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 422..445
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 181
FT /note="T -> A (in Ref. 3; AAL90363)"
FT /evidence="ECO:0000305"
FT CONFLICT 346
FT /note="L -> Q (in Ref. 3; AAL90363)"
FT /evidence="ECO:0000305"
FT CONFLICT 566
FT /note="K -> R (in Ref. 3; AAL90363)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 826 AA; 93620 MW; C9D473DC5B228736 CRC64;
MADAYCLTNF IDFSLSLSLP LKHHNRIKYT CFDISDSYII FGASSGSLYL FNRNGKFLLL
IPNKHGAITS LSISANSKYV AFATQRSLIC VYAVNLSAQA TPQVIFTHLD QSVQVTCIHW
TQDEKQFYYG DSRGQVSLVL LSSFIGHSLL FNMTVHPLLY LDSPIVQIDD FEYLLLVSNC
TKCILCNTEY EDYKQIGNRP RDGAFGACFF VSPQESLQPS RIYCARPGSR VWEVDFEGEV
IQTHQFKTAL ATAPARIQRP GSGTDELDAN AELLDYQPQN LQFAKVQRLN DDFLLAFTEL
GLYIFDIRRS AVVLWSNQFE RIADCRSSGS EIFVFTQSGA LYSVQLQTLQ SHAVSLIQQS
KLLPCANLLR QHVRYFADKA REDYELKQLN PLKQLLIERQ EYELLNDISV IFDAITQCTG
SALDTHSSGG SSATTERSLS GGSSSRAPPK GVYVLENAFC DNLKQPLKTG HFKDALLTVT
GKFGKNIIKY KFNIFAEEQQ QLVRELIPAS ERSLPFKDIK ARYESGSEDQ EEEIVRRCKK
PAPQVPHISP EEKTLYNLYL IAKSAKFSRT QCVDRYRAVF DEYAAGELVN LLEKLAQVMV
EHGDTPDQAQ RNCYEMYFDY LDPEMIWEVD DATRDHIAAG FVLLNTSQNA EIVKCEHCSF
PLRFDTSCQY HELGAVLLRY FWSRGEQLKC FDVVQSVPAL LDVLAKFYLA EQNLTKVVAI
VLNYGLPELL ADVGKQLSVS AWGRCFEQFV ELQRGGRLVC ANCECISGVE QEQLGRHFFY
NWNCFLNIAL DHMSAGDTLA LIFKWSSYIP NDAIDREFYS RCLLKG
