ID Q3U309_MOUSE Unreviewed; 712 AA. AC Q3U309; DT 11-OCT-2005, integrated into UniProtKB/TrEMBL. DT 11-OCT-2005, sequence version 1. DT 29-MAY-2024, entry version 116. DE SubName: Full=HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 {ECO:0000313|Ensembl:ENSMUSP00000125662.2}; GN Name=Hps1 {ECO:0000313|Ensembl:ENSMUSP00000125662.2, GN ECO:0000313|MGI:MGI:2177763}; 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 {ECO:0000313|EMBL:BAE32981.1}; RN [1] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=10349636; DOI=10.1016/S0076-6879(99)03004-9; RA Carninci P., Hayashizaki Y.; RT "High-efficiency full-length cDNA cloning."; RL Methods Enzymol. 303:19-44(1999). RN [2] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=11042159; DOI=10.1101/gr.145100; RA Carninci P., Shibata Y., Hayatsu N., Sugahara Y., Shibata K., Itoh M., RA Konno H., Okazaki Y., Muramatsu M., Hayashizaki Y.; RT "Normalization and subtraction of cap-trapper-selected cDNAs to prepare RT full-length cDNA libraries for rapid discovery of new genes."; RL Genome Res. 10:1617-1630(2000). RN [3] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=11076861; DOI=10.1101/gr.152600; RA Shibata K., Itoh M., Aizawa K., Nagaoka S., Sasaki N., Carninci P., RA Konno H., Akiyama J., Nishi K., Kitsunai T., Tashiro H., Itoh M., Sumi N., RA Ishii Y., Nakamura S., Hazama M., Nishine T., Harada A., Yamamoto R., RA Matsumoto H., Sakaguchi S., Ikegami T., Kashiwagi K., Fujiwake S., RA Inoue K., Togawa Y., Izawa M., Ohara E., Watahiki M., Yoneda Y., RA Ishikawa T., Ozawa K., Tanaka T., Matsuura S., Kawai J., Okazaki Y., RA Muramatsu M., Inoue Y., Kira A., Hayashizaki Y.; RT "RIKEN integrated sequence analysis (RISA) system--384-format sequencing RT pipeline with 384 multicapillary sequencer."; RL Genome Res. 10:1757-1771(2000). RN [4] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=11217851; DOI=10.1038/35055500; RG The RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium; RT "Functional annotation of a full-length mouse cDNA collection."; RL Nature 409:685-690(2001). RN [5] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=12466851; DOI=10.1038/nature01266; RG The FANTOM Consortium and the RIKEN Genome Exploration Research Group Phase I and II Team; RT "Analysis of the mouse transcriptome based on functional annotation of RT 60,770 full-length cDNAs."; RL Nature 420:563-573(2002). RN [6] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RA Arakawa T., Carninci P., Fukuda S., Hashizume W., Hayashida K., Hori F., RA Iida J., Imamura K., Imotani K., Itoh M., Kanagawa S., Kawai J., Kojima M., RA Konno H., Murata M., Nakamura M., Ninomiya N., Nishiyori H., Nomura K., RA Ohno M., Sakazume N., Sano H., Sasaki D., Shibata K., Shiraki T., RA Tagami M., Tagami Y., Waki K., Watahiki A., Muramatsu M., Hayashizaki Y.; RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases. RN [7] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RG The FANTOM Consortium; RG Riken Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group); RT "The Transcriptional Landscape of the Mammalian Genome."; RL Science 309:1559-1563(2005). RN [8] {ECO:0000313|EMBL:BAE32981.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=NOD {ECO:0000313|EMBL:BAE32981.1}; RX PubMed=16141073; DOI=10.1126/science.1112009; RG RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group) and the FANTOM Consortium; RT "Antisense Transcription in the Mammalian Transcriptome."; RL Science 309:1564-1566(2005). RN [9] {ECO:0000313|Ensembl:ENSMUSP00000125662.2, ECO:0000313|Proteomes:UP000000589} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000125662.2, RC ECO:0000313|Proteomes:UP000000589}; 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 [10] {ECO:0000313|Ensembl:ENSMUSP00000125662.2} RP IDENTIFICATION. RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000125662.2}; RG Ensembl; RL Submitted (FEB-2024) to UniProtKB. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK154994; BAE32981.1; -; mRNA. DR RefSeq; NP_001333632.1; NM_001346703.1. DR RefSeq; XP_006526833.1; XM_006526770.3. DR ProteomicsDB; 341101; -. DR Antibodypedia; 45895; 145 antibodies from 28 providers. DR DNASU; 192236; -. DR Ensembl; ENSMUST00000160455.8; ENSMUSP00000125662.2; ENSMUSG00000025188.16. DR GeneID; 192236; -. DR AGR; MGI:2177763; -. DR CTD; 3257; -. DR MGI; MGI:2177763; Hps1. DR VEuPathDB; HostDB:ENSMUSG00000025188; -. DR GeneTree; ENSGT00390000015298; -. DR HOGENOM; CLU_016960_1_0_1; -. DR OrthoDB; 3671710at2759; -. DR TreeFam; TF324374; -. DR BioGRID-ORCS; 192236; 3 hits in 78 CRISPR screens. DR ChiTaRS; Hps1; mouse. DR Proteomes; UP000000589; Chromosome 19. DR Bgee; ENSMUSG00000025188; Expressed in seminal vesicle and 169 other cell types or tissues. DR GO; GO:0031085; C:BLOC-3 complex; IEA:Ensembl. 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; IEA:Ensembl. 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 1: Evidence at protein level; KW Proteomics identification {ECO:0007829|EPD:Q3U309, KW ECO:0007829|MaxQB:Q3U309}; KW Reference proteome {ECO:0000313|Proteomes:UP000000589}. FT DOMAIN 2..159 FT /note="FUZ/MON1/HPS1 first Longin" FT /evidence="ECO:0000259|Pfam:PF19036" FT DOMAIN 205..415 FT /note="FUZ/MON1/HPS1 second Longin" FT /evidence="ECO:0000259|Pfam:PF19037" FT DOMAIN 552..704 FT /note="FUZ/MON1/HPS1 third Longin" FT /evidence="ECO:0000259|Pfam:PF19038" FT REGION 246..357 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 276..302 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 712 AA; 80789 MW; C602862F43BF4AAF CRC64; MKCVLVATEG AEVLFYWTDE EFAESLRLKL QQSEDEEEEL PVLEDQLSTL LAPVIISSMT MMEKLSDTYT CFSTENDNHL YVLHLFGEYL FVAINGDHSE SEGDLRRKLC VLKYLFEVHF GLVTVDGQLI RKELRPPDLE ERARVWKHFQ RLLGTYSYLR DREQSFAVEA VERLIHPQLC EQSIETLERH VVQAINASPE RGGEEVLHAF LLVHCKLLAF YSGHGASTLR PADLLALILL VQDLQPSPGT TEEEEEEEDS DSPQVPEHKG NRRRPKSSQN IPVQQARSQS TSVPTRSSRE TDTDSISLPE EYFTPAPSPG DQSSGSLVWL DGGTPPSDAL QMAEDTPEGL ASHSPELPSP RRIFLDANIK ENYCPLVPHT MYCLPLWPGI NMVLLTKSPS TPLALILYQL LDGFSLLEKK LKEGQEAGSA LRSQPFVADL RQKMDKFIKN RVGQEIQNTW LEFKSKAFSR SEPGSSWELL QVCGKLKRQL CVIYRLSFLV TAPSRGGPHL PQHLQDRAQK LMKERLLDWK DFLLVKSRRN VTMVSYLEDF PGLVHFIYVD RTTGQMVAPS LSPNEKMSSE LGKGPLAAFV KAKVWALVRL ARRYLQKGCT TLLFQEGDFR CSYFLWFEND MGYKLQMIEV PVLSDDSVPI GVLGGDYYRK LLRYYSKSHP SEPVRCYELL TLHLSVIPTD LLVQQASQLA RRLGEASRVT LP //