HPS1_MOUSE
ID HPS1_MOUSE Reviewed; 704 AA.
AC O08983; O35155; O35725; O35950;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-1998, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=BLOC-3 complex member HPS1 {ECO:0000305};
DE AltName: Full=Hermansky-Pudlak syndrome 1 protein homolog;
GN Name=Hps1; Synonyms=Ep, Hps;
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=129/SvJ, and BALB/cJ;
RX PubMed=9158155; DOI=10.1093/hmg/6.5.793;
RA Feng G.H., Bailin T., Oh J., Spritz R.A.;
RT "Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and
RT contains a rare 'AT-AC' intron.";
RL Hum. Mol. Genet. 6:793-797(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND DISEASE.
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=9256466; DOI=10.1073/pnas.94.17.9238;
RA Gardner J.M., Wildenberg S.C., Keiper N.M., Novak E.K., Rusiniak M.E.,
RA Swank R.T., Puri N., Finger J.N., Hagiwara N., Lehman A.L., Gales T.L.,
RA Bayer M.E., King R.A., Brilliant M.H.;
RT "The mouse pale ear (ep) mutation is the homologue of human Hermansky-
RT Pudlak syndrome.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:9238-9243(1997).
CC -!- FUNCTION: Component of the BLOC-3 complex, a complex that acts as a
CC guanine exchange factor (GEF) for RAB32 and RAB38, promotes the
CC exchange of GDP to GTP, converting them from an inactive GDP-bound form
CC into an active GTP-bound form. The BLOC-3 complex plays an important
CC role in the control of melanin production and melanosome biogenesis and
CC promotes the membrane localization of RAB32 and RAB38.
CC {ECO:0000250|UniProtKB:Q92902}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4. HPS1 cannot but
CC BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the
CC GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not
CC interact with the GDP-bound form of RAB9A and RAB9B.
CC {ECO:0000250|UniProtKB:Q92902}.
CC -!- TISSUE SPECIFICITY: Expressed in all tissues examined with the possible
CC exception of skeletal muscle. The highest expression was observed in
CC lung, liver, kidney and spleen.
CC -!- DISEASE: Note=Defects in Hps1 are the cause of the pale ear (ep) mutant
CC which exhibits hypopigmentation associated with defects of multiple
CC cytoplasmic organelles, including melanosomes, lysosomes, and granular
CC elements of platelets (PubMed:9256466). {ECO:0000269|PubMed:9256466}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB61333.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; U78315; AAB60929.1; -; mRNA.
DR EMBL; U78966; AAB61333.1; ALT_INIT; Genomic_DNA.
DR EMBL; U78955; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78956; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78957; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78958; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78959; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78960; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78961; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78962; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78963; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78964; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U78965; AAB61333.1; JOINED; Genomic_DNA.
DR EMBL; U97149; AAB68792.1; -; mRNA.
DR EMBL; AF003866; AAB68817.1; -; mRNA.
DR EMBL; AF004352; AAB69159.1; -; Genomic_DNA.
DR EMBL; AF004353; AAB69160.1; -; Genomic_DNA.
DR CCDS; CCDS37992.1; -.
DR RefSeq; NP_062297.1; NM_019424.2.
DR AlphaFoldDB; O08983; -.
DR ComplexPortal; CPX-5083; BLOC-3 complex.
DR STRING; 10090.ENSMUSP00000125662; -.
DR iPTMnet; O08983; -.
DR PhosphoSitePlus; O08983; -.
DR EPD; O08983; -.
DR MaxQB; O08983; -.
DR PaxDb; O08983; -.
DR PRIDE; O08983; -.
DR ProteomicsDB; 273317; -.
DR DNASU; 192236; -.
DR GeneID; 192236; -.
DR KEGG; mmu:192236; -.
DR UCSC; uc008hny.1; mouse.
DR CTD; 3257; -.
DR MGI; MGI:2177763; Hps1.
DR eggNOG; ENOG502QW8U; Eukaryota.
DR InParanoid; O08983; -.
DR Reactome; R-MMU-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR BioGRID-ORCS; 192236; 3 hits in 73 CRISPR screens.
DR ChiTaRS; Hps1; mouse.
DR PRO; PR:O08983; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; O08983; protein.
DR GO; GO:0031085; C:BLOC-3 complex; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0031410; C:cytoplasmic vesicle; ISO:MGI.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; ISO:MGI.
DR GO; GO:0046983; F:protein dimerization activity; ISO:MGI.
DR GO; GO:0007596; P:blood coagulation; IMP:MGI.
DR GO; GO:0000902; P:cell morphogenesis; IGI:MGI.
DR GO; GO:0006882; P:cellular zinc ion homeostasis; IMP:MGI.
DR GO; GO:0048069; P:eye pigmentation; IMP:MGI.
DR GO; GO:0010467; P:gene expression; IMP:MGI.
DR GO; GO:0006954; P:inflammatory response; IGI:MGI.
DR GO; GO:0046907; P:intracellular transport; IC:ComplexPortal.
DR GO; GO:0030324; P:lung development; IGI:MGI.
DR GO; GO:0060425; P:lung morphogenesis; IGI:MGI.
DR GO; GO:0007040; P:lysosome organization; IMP:MGI.
DR GO; GO:0030318; P:melanocyte differentiation; IMP:MGI.
DR GO; GO:1903232; P:melanosome assembly; ISS:UniProtKB.
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 GO; GO:0032816; P:positive regulation of natural killer cell activation; IMP:MGI.
DR GO; GO:0003016; P:respiratory system process; IGI:MGI.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:MGI.
DR GO; GO:0033299; P:secretion of lysosomal enzymes; IMP:MGI.
DR GO; GO:0007338; P:single fertilization; IMP:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:InterPro.
DR InterPro; IPR043972; FUZ/MON1/HPS1_longin_1.
DR InterPro; IPR043971; FUZ/MON1/HPS1_longin_2.
DR InterPro; IPR043970; FUZ/MON1/HPS1_longin_3.
DR InterPro; IPR026053; HPS1.
DR PANTHER; PTHR12761; PTHR12761; 1.
DR Pfam; PF19036; Fuz_longin_1; 1.
DR Pfam; PF19037; Fuz_longin_2; 1.
DR Pfam; PF19038; Fuz_longin_3; 1.
PE 2: Evidence at transcript level;
KW Albinism; Guanine-nucleotide releasing factor; Reference proteome; Repeat.
FT CHAIN 1..704
FT /note="BLOC-3 complex member HPS1"
FT /id="PRO_0000084049"
FT REPEAT 45..51
FT /note="[DE]-X(4)-L-L 1"
FT REPEAT 520..526
FT /note="[DE]-X(4)-L-L 2"
FT REPEAT 648..654
FT /note="[DE]-X(4)-L-L 3"
FT REGION 246..350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 266..294
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 31
FT /note="Q -> R (in strain: BALB/c)"
FT VARIANT 89
FT /note="Y -> C (in strain: BALB/c)"
FT VARIANT 258
FT /note="Missing (in strain: BALB/c)"
FT VARIANT 567
FT /note="E -> K (in strain: BALB/c)"
FT CONFLICT 62
FT /note="L -> M (in Ref. 2; AAB68792)"
FT /evidence="ECO:0000305"
FT CONFLICT 689
FT /note="S -> G (in Ref. 2; AAB69159)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 704 AA; 79853 MW; CFBB610E3F5A7B89 CRC64;
MKCVLVATEG AEVLFYWTDE EFAESLRLKL QQSEDEEEEL PVLEDQLSTL LAPVIISSMT
MLEKLSDTYT CFSTENDNHL YVLHLFGEYL FVAINGDHSE SEGDLRRKLC VLKYLFEVHF
GLVTVDGQLI RKELRPPDLE ERARVWKHFQ RLLGTYSYLR DREQSFAVEA VERLIHPQLC
EQSIETLERH VVQAINASPE RGGEEVLHAF LLVHCKLLAF YSGHGASTLR PADLLALILL
VQDLQPSPGT TEEEEEEEDS DSPQRRPKSS QNIPVQQARS QSTSVPTRSS RETDTDSISL
PEEYFTPAPS PGDQSSGSLV WLDGGTPPSD ALQMAEDTPE GLASHSPELP SPRRIFLDAN
IKENYCPLVP HTMYCLPLWP GINMVLLTKS PSTPLALILY QLLDGFSLLE KKLKEGQEAG
SALRSQPFVA DLRQKMDKFI KNRVGQEIQN TWLEFKSKAF SRSEPGSSWE LLQVCGKLKR
QLCVIYRLSF LVTAPSRGGP HLPQHLQDRA QKLMKERLLD WKDFLLVKSR RNVTMVSYLE
DFPGLVHFIY VDRTTGQMVA PSLSPNEKMS SELGKGPLAA FVKAKVWALV RLARRYLQKG
CTTLLFQEGD FRCSYFLWFE NDMGYKLQMI EVPVLSDDSV PIGVLGGDYY RKLLRYYSKS
HPSEPVRCYE LLTLHLSVIP TDLLVQQASQ LARRLGEASR VTLP
