HPS3_MOUSE
ID HPS3_MOUSE Reviewed; 1002 AA.
AC Q91VB4; Q6GTD8; Q8VDX2; Q8VHT1;
DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=BLOC-2 complex member HPS3 {ECO:0000305};
DE AltName: Full=Cocoa protein;
DE AltName: Full=Hermansky-Pudlak syndrome 3 protein homolog;
GN Name=Hps3; Synonyms=Coa;
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 [GENOMIC DNA / MRNA].
RC STRAIN=BALB/cJ, and C3H/HeSNJ;
RX PubMed=11592818; DOI=10.1006/mgme.2001.3233;
RA Huizing M., Anikster Y., White J.G., Gahl W.A.;
RT "Characterization of the murine gene corresponding to human Hermansky-
RT Pudlak syndrome type 3: exclusion of the subtle gray (sut) locus.";
RL Mol. Genet. Metab. 74:217-225(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], DISEASE, SUBCELLULAR LOCATION,
RP FUNCTION, AND TISSUE SPECIFICITY.
RC STRAIN=129/SvJ;
RX PubMed=11707070; DOI=10.1006/geno.2001.6644;
RA Suzuki T., Li W., Zhang Q., Novak E.K., Sviderskaya E.V., Wilson A.,
RA Bennett D.C., Roe B.A., Swank R.T., Spritz R.A.;
RT "The gene mutated in cocoa mice, carrying a defect of organelle biogenesis,
RT is a homologue of the human Hermansky-Pudlak syndrome-3 gene.";
RL Genomics 78:30-37(2001).
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].
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).
CC -!- FUNCTION: Involved in early stages of melanosome biogenesis and
CC maturation. {ECO:0000269|PubMed:11707070}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with
CC HPS5 and HPS6. {ECO:0000250|UniProtKB:Q969F9}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707070}.
CC Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q969F9}.
CC -!- TISSUE SPECIFICITY: Found in heart, brain, spleen, liver, lung, kidney
CC and testis. {ECO:0000269|PubMed:11707070}.
CC -!- DISEASE: Note=Defects in Hps3 are the cause of the cocoa (coa) mutant,
CC which is characterized by hypopigmentation and platelet dysfunction
CC (PubMed:11707070). {ECO:0000269|PubMed:11707070}.
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DR EMBL; AF396703; AAK84214.1; -; Genomic_DNA.
DR EMBL; AF396700; AAK84214.1; JOINED; Genomic_DNA.
DR EMBL; AF396701; AAK84214.1; JOINED; Genomic_DNA.
DR EMBL; AF396702; AAK84214.1; JOINED; Genomic_DNA.
DR EMBL; AF393747; AAK84181.1; -; mRNA.
DR EMBL; AF396648; AAL37710.1; -; Genomic_DNA.
DR EMBL; AF396632; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396633; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396634; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396635; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396636; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396637; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396638; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396639; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396640; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396641; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396642; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396643; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396644; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396645; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396646; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF396647; AAL37710.1; JOINED; Genomic_DNA.
DR EMBL; AF393780; AAL84109.1; -; mRNA.
DR EMBL; CH466530; EDL34889.1; -; Genomic_DNA.
DR EMBL; BC058235; AAH58235.1; -; mRNA.
DR EMBL; BC020105; AAH20105.1; -; mRNA.
DR CCDS; CCDS17260.1; -.
DR RefSeq; NP_001139795.1; NM_001146323.1.
DR RefSeq; NP_542365.3; NM_080634.4.
DR AlphaFoldDB; Q91VB4; -.
DR ComplexPortal; CPX-5084; BLOC-2 complex.
DR CORUM; Q91VB4; -.
DR STRING; 10090.ENSMUSP00000012580; -.
DR iPTMnet; Q91VB4; -.
DR PhosphoSitePlus; Q91VB4; -.
DR EPD; Q91VB4; -.
DR MaxQB; Q91VB4; -.
DR PaxDb; Q91VB4; -.
DR PRIDE; Q91VB4; -.
DR ProteomicsDB; 273168; -.
DR Antibodypedia; 33559; 173 antibodies from 30 providers.
DR Ensembl; ENSMUST00000012580; ENSMUSP00000012580; ENSMUSG00000027615.
DR GeneID; 12807; -.
DR KEGG; mmu:12807; -.
DR UCSC; uc008osf.2; mouse.
DR CTD; 84343; -.
DR MGI; MGI:2153839; Hps3.
DR VEuPathDB; HostDB:ENSMUSG00000027615; -.
DR eggNOG; ENOG502QRQB; Eukaryota.
DR GeneTree; ENSGT00390000015458; -.
DR HOGENOM; CLU_011989_0_0_1; -.
DR InParanoid; Q91VB4; -.
DR OMA; SPSTYRH; -.
DR OrthoDB; 85118at2759; -.
DR PhylomeDB; Q91VB4; -.
DR TreeFam; TF324432; -.
DR BioGRID-ORCS; 12807; 4 hits in 73 CRISPR screens.
DR ChiTaRS; Hps3; mouse.
DR PRO; PR:Q91VB4; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q91VB4; protein.
DR Bgee; ENSMUSG00000027615; Expressed in granulocyte and 232 other tissues.
DR ExpressionAtlas; Q91VB4; baseline and differential.
DR Genevisible; Q91VB4; MM.
DR GO; GO:0031084; C:BLOC-2 complex; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0005769; C:early endosome; IC:ComplexPortal.
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 InterPro; IPR017216; HPS3.
DR InterPro; IPR029438; HPS3_C.
DR InterPro; IPR028167; HPS3_central_dom.
DR InterPro; IPR029437; HPS3_N.
DR PANTHER; PTHR28633; PTHR28633; 1.
DR Pfam; PF14763; HPS3_C; 1.
DR Pfam; PF14762; HPS3_Mid; 1.
DR Pfam; PF14761; HPS3_N; 1.
DR PIRSF; PIRSF037473; BLOC-2_complex_Hps3; 1.
PE 2: Evidence at transcript level;
KW Albinism; Cytoplasm; Reference proteome.
FT CHAIN 1..1002
FT /note="BLOC-2 complex member HPS3"
FT /id="PRO_0000084051"
FT REGION 218..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 634
FT /note="M -> V (in Ref. 4; AAH20105)"
FT /evidence="ECO:0000305"
FT CONFLICT 891
FT /note="T -> A (in Ref. 1; AAK84214/AAK84181 and 4;
FT AAH20105)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1002 AA; 113182 MW; 2C3017EC3D2C0EB8 CRC64;
MVRLYNLHPF GSQQVVPCQW EPEQVCCGGS DALFVAAGCK VEAFAVQGEE LCRQRCAFST
LGRVLRMAYS EAGDYLVAIE EKNKTIFLRA YVNWRSKRSD NSRVCIRMVG HNVEASFCES
FRDQMSIIEM PMSEAPLCFS CCPVKGDLLV GCTNKLVLFT LKYDIINEEF SILNFERSLI
IHIDNITPVE ISFCVGYVAV MSDLEVLLLK LESDPIHGES VDHHPQETSN PLKEAEGVSN
ETSQLESEDF VICLKPMELI GEKCEQSGIS VKLESTGLED EKVKYLRVRH LLYRRFAPDI
SSYVLSDNIK LHSLQLLPIH QSGFHPDEND LSPKKEMPNL FCFFSLPHVG YLYMVVKSVE
LMSVYWYPEK SQQAVLTPQF LHVITSQSLQ CFTVRCSAAV AHEEDLYMDT TLKACPPVSM
DVCALRIQLF IGLKAICHFK NHIILLTKAE PEAIPERRES PKKLISRKDA SVRSGTPHVA
EAAWNLYLVN TTAPVQLYKE MVDYSNSYKT VKTESCLHLL SEAHLLVRAA LMDGSQLEPA
EKAELLEAFK ESCGHLGDCY SRLTTEQSHL ALPYYKMSGL SLAEVLARVD WTEESESQKY
ERGLVFYINH SLYENLDEEL SKELAAKVAQ IFHMAEPKQL PHVLSSPSMK NIDPLTALHY
LRKLDSCGVS PVLVTLTKAA VALKMGDLDM YRNEMKSHSE MKLVYGFILE PRLLIQQWKG
QIVPTELAID LKETQPGLLV ASVLGLQKND KIGIVETDSF FKVLCGKDED AVPQLLIDFW
EAQLVACLPN VVLEELFFKL ISQYVWRLSE RRCPDTVPLR TAEDLINACS HYGLVNPWVH
VLTTSDSLAD KNYTDDLLKL QSLICSPSLD VASIIPFLEP LSEDTVAGLS THALCHTRLQ
EYEQCIDTLL ERCPEAVIAY ANQELKEDHW ILWWKKLLPE LCQRVKSGGE RSHLHLSLLK
ETLSVIAVGL DLRDFLNVLP EDGAAAFFLP YLLFCSRKKS LT
