HPS5_MOUSE
ID HPS5_MOUSE Reviewed; 1126 AA.
AC P59438; G3X8S7;
DT 28-MAR-2003, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2012, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=BLOC-2 complex member HPS5 {ECO:0000305};
DE AltName: Full=Hermansky-Pudlak syndrome 5 protein homolog;
DE AltName: Full=Ruby-eye protein 2;
DE Short=Ru2;
GN Name=Hps5; Synonyms=Ru2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), AND INVOLVEMENT IN
RP HERMANSKY-PUDLAK-LIKE SYNDROME.
RC STRAIN=C57BL/6J; TISSUE=Kidney;
RX PubMed=12548288; DOI=10.1038/ng1087;
RA Zhang Q., Zhao B., Li W., Oiso N., Novak E.K., Rusiniak M.E., Gautam R.,
RA Chintala S., O'Brien E.P., Zhang Y., Roe B.A., Elliott R.W., Eicher E.M.,
RA Liang P., Kratz C., Legius E., Spritz R.A., O'Sullivan T.N., Copeland N.G.,
RA Jenkins N.A., Swank R.T.;
RT "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-
RT Pudlak syndrome types 5 and 6.";
RL Nat. Genet. 33:145-153(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-1126.
RC STRAIN=FVB/N; TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19144319; DOI=10.1016/j.immuni.2008.11.006;
RA Trost M., English L., Lemieux S., Courcelles M., Desjardins M.,
RA Thibault P.;
RT "The phagosomal proteome in interferon-gamma-activated macrophages.";
RL Immunity 30:143-154(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney, Lung, Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: May regulate the synthesis and function of lysosomes and of
CC highly specialized organelles, such as melanosomes and platelet dense
CC granules. Regulates intracellular vesicular trafficking in fibroblasts.
CC May be involved in the regulation of general functions of integrins.
CC {ECO:0000250|UniProtKB:Q9UPZ3}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with
CC HPS6 and HPS3. May interact with all alpha-integrin chains that have an
CC aromatic residue before the first lysine of the conserved KXGFFKR
CC motif, including ITGA2, ITGA3, ITGA5 and ITGA6.
CC {ECO:0000250|UniProtKB:Q9UPZ3}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9UPZ3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P59438-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P59438-2; Sequence=VSP_007036;
CC Name=3;
CC IsoId=P59438-3; Sequence=VSP_007037, VSP_007038;
CC -!- TISSUE SPECIFICITY: Widely expressed, with lowest expression in
CC skeletal muscle and spleen.
CC -!- DISEASE: Note=Defects in Hps5 are the cause of Hermansky-Pudlak-like
CC syndrome, a syndrome characterized by hypopigmented eyes and coat,
CC melanosomes greatly reduced in number and morphologically bizarre,
CC kidney proximal tubules secreting lysosomal enzymes into urine at
CC greatly reduced rates, platelet dense granules deficient in critical
CC components, such as serotonin and adenine nucleotides, leading to
CC functionally abnormal platelets and prolonged bleeding times, and mast
CC cell granules undergoing unregulated 'kiss-and-run' fusion at the
CC plasma membrane. {ECO:0000269|PubMed:12548288}.
CC -!- SIMILARITY: Belongs to the HPS5 family. {ECO:0000305}.
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DR EMBL; AF534396; AAO25958.1; -; mRNA.
DR EMBL; AF534397; AAO25959.1; -; mRNA.
DR EMBL; AF534398; AAO25960.1; -; mRNA.
DR EMBL; AF534399; AAO25961.1; -; mRNA.
DR EMBL; AC090122; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466603; EDL22941.1; -; Genomic_DNA.
DR EMBL; CH466603; EDL22942.1; -; Genomic_DNA.
DR EMBL; CH466603; EDL22943.1; -; Genomic_DNA.
DR EMBL; BC046405; AAH46405.1; -; mRNA.
DR CCDS; CCDS21286.1; -. [P59438-1]
DR RefSeq; NP_001005247.2; NM_001005247.2. [P59438-1]
DR RefSeq; NP_001005248.2; NM_001005248.2. [P59438-1]
DR RefSeq; NP_001161336.1; NM_001167864.1.
DR RefSeq; XP_006540967.1; XM_006540904.2. [P59438-1]
DR RefSeq; XP_006540968.1; XM_006540905.3. [P59438-1]
DR AlphaFoldDB; P59438; -.
DR SMR; P59438; -.
DR BioGRID; 232927; 1.
DR ComplexPortal; CPX-5084; BLOC-2 complex.
DR CORUM; P59438; -.
DR STRING; 10090.ENSMUSP00000014562; -.
DR iPTMnet; P59438; -.
DR PhosphoSitePlus; P59438; -.
DR EPD; P59438; -.
DR jPOST; P59438; -.
DR MaxQB; P59438; -.
DR PaxDb; P59438; -.
DR PeptideAtlas; P59438; -.
DR PRIDE; P59438; -.
DR ProteomicsDB; 267154; -. [P59438-1]
DR ProteomicsDB; 267155; -. [P59438-2]
DR ProteomicsDB; 267156; -. [P59438-3]
DR Antibodypedia; 25002; 120 antibodies from 23 providers.
DR DNASU; 246694; -.
DR Ensembl; ENSMUST00000014562; ENSMUSP00000014562; ENSMUSG00000014418. [P59438-1]
DR Ensembl; ENSMUST00000107654; ENSMUSP00000103281; ENSMUSG00000014418. [P59438-1]
DR Ensembl; ENSMUST00000142663; ENSMUSP00000122887; ENSMUSG00000014418. [P59438-3]
DR GeneID; 246694; -.
DR KEGG; mmu:246694; -.
DR UCSC; uc009gzh.2; mouse. [P59438-1]
DR CTD; 11234; -.
DR MGI; MGI:2180307; Hps5.
DR VEuPathDB; HostDB:ENSMUSG00000014418; -.
DR eggNOG; KOG3621; Eukaryota.
DR GeneTree; ENSGT00940000155818; -.
DR HOGENOM; CLU_039180_0_0_1; -.
DR InParanoid; P59438; -.
DR OMA; MCLLCYQ; -.
DR PhylomeDB; P59438; -.
DR TreeFam; TF323607; -.
DR BioGRID-ORCS; 246694; 4 hits in 72 CRISPR screens.
DR ChiTaRS; Hps5; mouse.
DR PRO; PR:P59438; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; P59438; protein.
DR Bgee; ENSMUSG00000014418; Expressed in humerus cartilage element and 224 other tissues.
DR ExpressionAtlas; P59438; baseline and differential.
DR Genevisible; P59438; MM.
DR GO; GO:0031084; C:BLOC-2 complex; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005769; C:early endosome; IC:ComplexPortal.
DR GO; GO:0007596; P:blood coagulation; IMP:MGI.
DR GO; GO:0048066; P:developmental pigmentation; IBA:GO_Central.
DR GO; GO:0046907; P:intracellular transport; IC:ComplexPortal.
DR GO; GO:1903232; P:melanosome assembly; IC:ComplexPortal.
DR GO; GO:0006996; P:organelle organization; IMP:MGI.
DR GO; GO:0043473; P:pigmentation; IMP:MGI.
DR GO; GO:0060155; P:platelet dense granule organization; IC:ComplexPortal.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR035431; HPS5.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PIRSF; PIRSF037475; BLOC-2_complex_Hps5; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..1126
FT /note="BLOC-2 complex member HPS5"
FT /id="PRO_0000084055"
FT REGION 461..514
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 560..579
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 471..497
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 498..512
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 532
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9UPZ3"
FT MOD_RES 534
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9UPZ3"
FT MOD_RES 693
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9UPZ3"
FT VAR_SEQ 1..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12548288"
FT /id="VSP_007036"
FT VAR_SEQ 504..526
FT /note="ESASHSPVMSEVDKSEAFLPFSI -> GMKDGSRFGSHCLPFSMLQHSCD
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12548288"
FT /id="VSP_007037"
FT VAR_SEQ 527..1126
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12548288"
FT /id="VSP_007038"
FT CONFLICT 442
FT /note="E -> V (in Ref. 1; AAO25958/AAO25959/AAO25960/
FT AAO25961)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1126 AA; 126337 MW; 31B715FE32DAE699 CRC64;
MTFVPVIPEA YSHVLAEFES LDPLLTALRL DSSRLRCTSI AVSRKWLALG STGGGLNLIQ
KDGWKQRLFL SHREGAISQI ACCSHDDDYV AVATSQGLVV VWELNQERRG KPERIHVSSE
HKGRKVTALC WDTAVLRVFV GDHVGKVSAI KLNTLKQAKA AAAFVMFPVQ TVLTVDSCVV
QLDYLDGRLL VSSLTRSFLC DTEREKFWKI GNKERHGEYG ACFFPGRCAG GQQPVIYCAR
PGSRMWEVNF DGEVLSTHQF KKLLSMPPLP VITARSEPQY DHTVGSSQSL AFPKLLHLSE
HCVLTWTEKG IYIFIPQNVQ VLLWSEVKDI QDVAVYKNEL FCLHFNGKIS HLSLLSVERC
VERLLRRGLW DLAARTCCLF QNSIITSRAR KTLTADKLEH LKSQLDLTAC SELISQLDDL
ILRFEPLESA CSSRRSSISS HESFSILDSG IYRIISSRRG SQSDEDSCSL HSQTFSEDER
LKEFASHQEE EQPEQGCGAN RNEESASHSP VMSEVDKSEA FLPFSIALPF RSPSPLVSLQ
AVKDSVSSFV RKTTEKIGTL HGSPELKEPF ESKDADRAHE EEVSAVTCPL EEDTEEKEIH
QPPKEDRLQE LTAATAEAMT KLLDPLVLFE PKVLRMVLLE WLSQLEKTFA MKDFPGISNT
SSPTVKSNLG AHLLGETEKR VLDEESGEGR RVSLVTEEAG GQITCDPVSN LSEPSADRFR
VCSPYAITNS LQRDLAELTT LCLELNVLTS AMESVGGHVD RASQQLSPEI LACRFLKKYF
FLLDLKRAKE SIKLTYDSPC VWDTFVEGLK EMARSNPAYT ELEEGDLPTG LQLLDGSVPS
DSPLLIAFAT RLYDRFGESA LRACIKFYPS ISPSDIAQLC RHHPAQFLAY LDSLVKSRPE
DQWPSFLEFL LQPESLRLEW LLLAVSHDAP PSTSTVDDEG HPRPHSHLLS WGYSQLILLL
IKLPADFTTK EKMTDICRSY GFWPGYLTLC LELERRREAF TNIVYLNDIS LMEGDNGWIP
ETLEEWKLLL HLLQTKSTRP APQESLNGSL SDGPAPINVE NVALLLAKAM GPDRAWSLLQ
ECGLALELSE KFTRTCDILR IAERRQRALI QGMLEKCDRF LWSQQA
