ID H2QZM8_PANTR Unreviewed; 700 AA.
AC H2QZM8; A0A2J8PDI3;
DT 21-MAR-2012, integrated into UniProtKB/TrEMBL.
DT 21-MAR-2012, sequence version 1.
DT 27-MAR-2024, entry version 57.
DE SubName: Full=HPS1 biosis of lysosomal organelles complex 3 subunit 1 {ECO:0000313|Ensembl:ENSPTRP00000039214.3};
DE SubName: Full=Hermansky-Pudlak syndrome 1 {ECO:0000313|EMBL:JAA42493.1};
GN Name=HPS1 {ECO:0000313|EMBL:JAA42493.1,
GN ECO:0000313|Ensembl:ENSPTRP00000039214.3, ECO:0000313|VGNC:VGNC:8881};
OS Pan troglodytes (Chimpanzee).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Pan.
OX NCBI_TaxID=9598 {ECO:0000313|Ensembl:ENSPTRP00000039214.3, ECO:0000313|Proteomes:UP000002277};
RN [1] {ECO:0000313|Ensembl:ENSPTRP00000039214.3, ECO:0000313|Proteomes:UP000002277}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16136131; DOI=10.1038/nature04072;
RG Chimpanzee sequencing and analysis consortium;
RT "Initial sequence of the chimpanzee genome and comparison with the human
RT genome.";
RL Nature 437:69-87(2005).
RN [2] {ECO:0000313|EMBL:JAA42493.1}
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Skeletal muscle {ECO:0000313|EMBL:JAA42493.1};
RA Maudhoo M.D., Meehan D.T., Norgren R.B.Jr.;
RT "De novo assembly of the reference chimpanzee transcriptome from NextGen
RT mRNA sequences.";
RL Submitted (OCT-2012) to the EMBL/GenBank/DDBJ databases.
RN [3] {ECO:0000313|Ensembl:ENSPTRP00000039214.3}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; AACZ04051088; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; GABE01002246; JAA42493.1; -; mRNA.
DR RefSeq; XP_009457341.1; XM_009459066.2.
DR RefSeq; XP_009457342.1; XM_009459067.2.
DR RefSeq; XP_009457343.1; XM_009459068.2.
DR STRING; 9598.ENSPTRP00000039214; -.
DR PaxDb; 9598-ENSPTRP00000039214; -.
DR Ensembl; ENSPTRT00000047935.4; ENSPTRP00000039214.3; ENSPTRG00000002825.7.
DR GeneID; 450663; -.
DR KEGG; ptr:450663; -.
DR CTD; 3257; -.
DR VGNC; VGNC:8881; HPS1.
DR eggNOG; ENOG502QW8U; Eukaryota.
DR GeneTree; ENSGT00390000015298; -.
DR HOGENOM; CLU_016960_1_0_1; -.
DR OMA; GLVHFMY; -.
DR OrthoDB; 3671710at2759; -.
DR TreeFam; TF324374; -.
DR Proteomes; UP000002277; Chromosome 10.
DR Bgee; ENSPTRG00000002825; Expressed in heart and 21 other cell types or tissues.
DR GO; GO:0031085; C:BLOC-3 complex; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:Ensembl.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:Ensembl.
DR GO; GO:0046983; F:protein dimerization activity; IEA:Ensembl.
DR GO; GO:1903232; P:melanosome assembly; IBA:GO_Central.
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:SF1; HERMANSKY-PUDLAK SYNDROME 1 PROTEIN; 1.
DR PANTHER; PTHR12761; HERMANSKY-PUDLAK SYNDROME PROTEIN 1; 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 Reference proteome {ECO:0000313|Proteomes:UP000002277}.
FT DOMAIN 2..159
FT /note="FUZ/MON1/HPS1 first Longin"
FT /evidence="ECO:0000259|Pfam:PF19036"
FT DOMAIN 205..403
FT /note="FUZ/MON1/HPS1 second Longin"
FT /evidence="ECO:0000259|Pfam:PF19037"
FT DOMAIN 540..694
FT /note="FUZ/MON1/HPS1 third Longin"
FT /evidence="ECO:0000259|Pfam:PF19038"
FT REGION 249..317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 260..296
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 700 AA; 79266 MW; D87189C5433E6E73 CRC64;
MKCVLVATEG AEVLFYWTDE EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT
MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF
GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC
ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL
VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY
FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES
YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR
SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA
IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM QEKLTDWKDF LLVKSRRNIT MVSYLEDFPG
LVHFIYVDRT TGQMVAPSLN CSEKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL
LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE
AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL
//
