LOCUS       NP_062297                704 aa            linear   ROD 02-MAY-2024
DEFINITION  BLOC-3 complex member HPS1 isoform 1 [Mus musculus].
ACCESSION   NP_062297
VERSION     NP_062297.1
DBSOURCE    REFSEQ: accession NM_019424.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 704)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (residues 1 to 704)
  AUTHORS   Yuan,Y., Liu,T., Huang,X., Chen,Y., Zhang,W., Li,T., Yang,L.,
            Chen,Q., Wang,Y., Wei,A. and Li,W.
  TITLE     A zinc transporter, transmembrane protein 163, is critical for the
            biogenesis of platelet dense granules
  JOURNAL   Blood 137 (13), 1804-1817 (2021)
   PUBMED   33513603
REFERENCE   3  (residues 1 to 704)
  AUTHORS   Yu,J., He,X., Wei,A., Liu,T., Zhang,Q., Pan,Y., Hao,Z., Yang,L.,
            Yuan,Y., Zhang,Z., Zhang,C., Hao,C., Liu,Z. and Li,W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 704)
  AUTHORS   Summer,R., Krishna,R., Schriner,D., Cuevas-Mora,K., Sales,D.,
            Para,R., Roman,J., Nieweld,C., Gochuico,B.R. and Romero,F.
  TITLE     Matrix metalloproteinase activity in the lung is increased in
            Hermansky-Pudlak syndrome
  JOURNAL   Orphanet J Rare Dis 14 (1), 162 (2019)
   PUBMED   31272455
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 704)
  AUTHORS   Jing,R., Zhang,H., Kong,Y., Li,K., Dong,X., Yan,J., Han,J. and
            Feng,L.
  TITLE     Different functions of biogenesis of lysosomal organelles complex 3
            subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1
            subunit (Ap3b1) genes on spermatogenesis and male fertility
  JOURNAL   Reprod Fertil Dev 31 (5), 972-982 (2019)
   PUBMED   30786955
  REMARK    GeneRIF: Together, the results indicate that the Hps1 and Ap3b1
            genes play distinct roles in male reproductive system development
            and spermatogenesis in mice
REFERENCE   6  (residues 1 to 704)
  AUTHORS   Paigen,B., Holmes,P.A., Novak,E.K. and Swank,R.T.
  TITLE     Analysis of atherosclerosis susceptibility in mice with genetic
            defects in platelet function
  JOURNAL   Arteriosclerosis 10 (4), 648-652 (1990)
   PUBMED   2369371
REFERENCE   7  (residues 1 to 704)
  AUTHORS   Moore,K.J., Swing,D.A., Copeland,N.G. and Jenkins,N.A.
  TITLE     Interaction of the murine dilute suppressor gene (dsu) with
            fourteen coat color mutations
  JOURNAL   Genetics 125 (2), 421-430 (1990)
   PUBMED   2379821
  REMARK    Erratum:[Genetics 1990 Sep;126(1):285]
REFERENCE   8  (residues 1 to 704)
  AUTHORS   McGarry,M.P., Novak,E.K. and Swank,R.T.
  TITLE     Progenitor cell defect correctable by bone marrow transplantation
            in five independent mouse models of platelet storage pool
            deficiency
  JOURNAL   Exp Hematol 14 (4), 261-265 (1986)
   PUBMED   3516713
REFERENCE   9  (residues 1 to 704)
  AUTHORS   Novak,E.K. and Swank,R.T.
  TITLE     Lysosomal dysfunctions associated with mutations at mouse pigment
            genes
  JOURNAL   Genetics 92 (1), 189-204 (1979)
   PUBMED   115747
REFERENCE   10 (residues 1 to 704)
  AUTHORS   LaVail,J.H., Nixon,R.A. and Sidman,R.L.
  TITLE     Genetic control of retinal ganglion cell projections
  JOURNAL   J Comp Neurol 182 (3), 399-421 (1978)
   PUBMED   102659
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125458.3, BB843487.1, BG062886.2, U97149.1 and BC058332.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK171225.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 36.56 cM"
     Protein         1..704
                     /product="BLOC-3 complex member HPS1 isoform 1"
                     /note="Hermansky-Pudlak syndrome protein homolog;
                     hermansky-Pudlak syndrome 1 protein homolog; pale ear;
                     Hermansky-Pudlak syndrome 1 homolog; BLOC-3 complex member
                     HPS1"
                     /calculated_mol_wt=79741
     Region          2..159
                     /region_name="Fuz_longin_1"
                     /note="First Longin domain of FUZ, MON1 and HPS1;
                     pfam19036"
                     /db_xref="CDD:465953"
     Region          45..51
                     /region_name="[DE]-X(4)-L-L 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O08983.2)"
     Region          204..>249
                     /region_name="Fuz_longin_2"
                     /note="Second Longin domain of FUZ, MON1 and HPS1;
                     pfam19037"
                     /db_xref="CDD:465954"
     Region          246..350
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O08983.2)"
     Region          520..526
                     /region_name="[DE]-X(4)-L-L 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O08983.2)"
     Region          544..699
                     /region_name="Fuz_longin_3"
                     /note="Third Longin domain of FUZ, MON1 and HPS1;
                     pfam19038"
                     /db_xref="CDD:465955"
     Region          648..654
                     /region_name="[DE]-X(4)-L-L 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O08983.2)"
     CDS             1..704
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /coded_by="NM_019424.3:204..2318"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS37992.1"
                     /db_xref="GeneID:192236"
                     /db_xref="MGI:MGI:2177763"
ORIGIN      
        1 mkcvlvateg aevlfywtde efaeslrlkl qqsedeeeel pvledqlstl lapviissmt
       61 mmeklsdtyt cfstendnhl yvlhlfgeyl fvaingdhse segdlrrklc vlkylfevhf
      121 glvtvdgqli rkelrppdle erarvwkhfq rllgtysylr dreqsfavea verlihpqlc
      181 eqsietlerh vvqainaspe rggeevlhaf llvhckllaf ysghgastlr padllalill
      241 vqdlqpspgt teeeeeeeds dspqrrpkss qnipvqqars qstsvptrss retdtdsisl
      301 peeyftpaps pgdqssgslv wldggtppsd alqmaedtpe glashspelp sprrifldan
      361 ikenycplvp htmyclplwp ginmvlltks pstplalily qlldgfslle kklkegqeag
      421 salrsqpfva dlrqkmdkfi knrvgqeiqn twlefkskaf srsepgsswe llqvcgklkr
      481 qlcviyrlsf lvtapsrggp hlpqhlqdra qklmkerlld wkdfllvksr rnvtmvsyle
      541 dfpglvhfiy vdrttgqmva pslspnekms selgkgplaa fvkakvwalv rlarrylqkg
      601 cttllfqegd frcsyflwfe ndmgyklqmi evpvlsddsv pigvlggdyy rkllryysks
      661 hpsepvrcye lltlhlsvip tdllvqqasq larrlgeasr vtlp
//
