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Q92902

- HPS1_HUMAN

UniProt

Q92902 - HPS1_HUMAN

Protein

Hermansky-Pudlak syndrome 1 protein

Gene

HPS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (21 Jun 2005)
      Previous versions | rss
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    Functioni

    Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein dimerization activity Source: UniProtKB

    GO - Biological processi

    1. blood coagulation Source: Ensembl
    2. eye pigmentation Source: Ensembl
    3. lysosome organization Source: ProtInc
    4. melanocyte differentiation Source: Ensembl
    5. positive regulation of natural killer cell activation Source: Ensembl
    6. retina development in camera-type eye Source: Ensembl
    7. secretion of lysosomal enzymes Source: Ensembl
    8. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Sensory transduction, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 1 protein
    Gene namesi
    Name:HPS1
    Synonyms:HPS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:5163. HPS1.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-3 complex Source: FlyBase
    2. cytoplasm Source: ProtInc
    3. cytoplasmic membrane-bounded vesicle Source: MGI
    4. integral component of plasma membrane Source: ProtInc
    5. lysosome Source: ProtInc

    Pathology & Biotechi

    Involvement in diseasei

    Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551Missing in HPS1; mild. 1 Publication
    VAR_007950

    Keywords - Diseasei

    Albinism, Disease mutation, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi203300. phenotype.
    Orphaneti231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
    PharmGKBiPA35101.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 700700Hermansky-Pudlak syndrome 1 proteinPRO_0000084047Add
    BLAST

    Proteomic databases

    MaxQBiQ92902.
    PaxDbiQ92902.
    PRIDEiQ92902.

    PTM databases

    PhosphoSiteiQ92902.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ92902.
    BgeeiQ92902.
    CleanExiHS_HPS1.
    GenevestigatoriQ92902.

    Organism-specific databases

    HPAiHPA061260.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HPS4Q9NQG715EBI-704347,EBI-704377

    Protein-protein interaction databases

    BioGridi109494. 3 interactions.
    IntActiQ92902. 2 interactions.
    STRINGi9606.ENSP00000326649.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92902.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati45 – 517[DE]-X(4)-L-L 1
    Repeati147 – 1537[DE]-X(4)-L-L 2
    Repeati516 – 5227[DE]-X(4)-L-L 3
    Repeati644 – 6507[DE]-X(4)-L-L 4

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi698 – 7003Melanosome targeting signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi34 – 396Poly-Glu

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG83822.
    HOVERGENiHBG004099.
    InParanoidiQ92902.
    OMAiCLPLWPG.
    OrthoDBiEOG7NGQB2.
    PhylomeDBiQ92902.
    TreeFamiTF324374.

    Family and domain databases

    InterProiIPR026053. HPS1.
    [Graphical view]
    PANTHERiPTHR12761. PTHR12761. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform I (identifier: Q92902-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL    50
    LAPVIISSMT MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE 100
    SEGDLRRKLY VLKYLFEVHF GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ 150
    SLLWTYSRLR EQEQCFAVEA LERLIHPQLC ELCIEALERH VIQAVNTSPE 200
    RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL VQDLYPSEST 250
    AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 300
    FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR 350
    IFLDANVKES YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD 400
    GFSMLEKKLK EGPEPGASLR SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE 450
    FKAKAFSKSE PGSSWELLQA CGKLKRQLCA IYRLNFLTTA PSRGGPHLPQ 500
    HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG LVHFIYVDRT 550
    TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 600
    LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL 650
    RYYSKNRPTE AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL 700
    Length:700
    Mass (Da):79,292
    Last modified:June 21, 2005 - v2
    Checksum:i0885D3E2D64B3248
    GO
    Isoform II (identifier: Q92902-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         257-289: Missing.

    Show »
    Length:667
    Mass (Da):75,877
    Checksum:i25D69E459957A263
    GO
    Isoform III (identifier: Q92902-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         314-324: STIWLEGGTPP → EDRRKAGGNNS
         325-700: Missing.

    Show »
    Length:324
    Mass (Da):36,476
    Checksum:i02E16B04FDEB3E6A
    GO
    Isoform IV (identifier: Q92902-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         114-133: Missing.

    Show »
    Length:680
    Mass (Da):76,937
    Checksum:iA6B02698878EB1CF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti254 – 2541D → H in AAC52074. (PubMed:9579545)Curated
    Sequence conflicti533 – 5375SYLED → Y in AAB70662. (PubMed:9182823)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551Missing in HPS1; mild. 1 Publication
    VAR_007950
    Natural varianti100 – 1001E → D.
    Corresponds to variant rs1801285 [ dbSNP | Ensembl ].
    VAR_014887
    Natural varianti186 – 1861A → V.
    Corresponds to variant rs1801286 [ dbSNP | Ensembl ].
    VAR_014888
    Natural varianti283 – 2831G → W.
    Corresponds to variant rs11592273 [ dbSNP | Ensembl ].
    VAR_005290
    Natural varianti480 – 4801A → T.
    Corresponds to variant rs17109853 [ dbSNP | Ensembl ].
    VAR_038378
    Natural varianti491 – 4911P → R.
    Corresponds to variant rs2296434 [ dbSNP | Ensembl ].
    VAR_005291
    Natural varianti603 – 6031Q → R.
    Corresponds to variant rs2296436 [ dbSNP | Ensembl ].
    VAR_005292
    Natural varianti630 – 6301V → I.
    VAR_005293

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei114 – 13320Missing in isoform IV. CuratedVSP_004288Add
    BLAST
    Alternative sequencei257 – 28933Missing in isoform II. CuratedVSP_004289Add
    BLAST
    Alternative sequencei314 – 32411STIWLEGGTPP → EDRRKAGGNNS in isoform III. 2 PublicationsVSP_004290Add
    BLAST
    Alternative sequencei325 – 700376Missing in isoform III. 2 PublicationsVSP_004291Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U65676 mRNA. Translation: AAB17869.1.
    U79136
    , U79123, U79124, U79125, U79126, U79127, U79128, U79129, U79130, U79131, U79132, U79133, U79134, U79135 Genomic DNA. Translation: AAB70662.1.
    U96721 mRNA. Translation: AAC52074.1.
    AF450133 Genomic DNA. Translation: AAL50684.1.
    AL139243 Genomic DNA. Translation: CAI14152.1.
    AL139243 Genomic DNA. Translation: CAI14153.1.
    CH471066 Genomic DNA. Translation: EAW49882.1.
    BC000175 mRNA. Translation: AAH00175.1.
    CCDSiCCDS7475.1. [Q92902-1]
    CCDS7476.1. [Q92902-3]
    RefSeqiNP_000186.2. NM_000195.3. [Q92902-1]
    NP_872577.1. NM_182639.2. [Q92902-3]
    XP_005269812.1. XM_005269755.2. [Q92902-1]
    XP_005269813.1. XM_005269756.2. [Q92902-1]
    XP_005269814.1. XM_005269757.2. [Q92902-1]
    XP_005269815.1. XM_005269758.1. [Q92902-2]
    UniGeneiHs.404568.

    Genome annotation databases

    EnsembliENST00000325103; ENSP00000326649; ENSG00000107521. [Q92902-1]
    ENST00000338546; ENSP00000343638; ENSG00000107521. [Q92902-3]
    ENST00000361490; ENSP00000355310; ENSG00000107521. [Q92902-1]
    GeneIDi3257.
    KEGGihsa:3257.
    UCSCiuc001kpl.3. human. [Q92902-3]
    uc021pwv.1. human. [Q92902-1]

    Polymorphism databases

    DMDMi68067891.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the HPS gene

    Retina International's Scientific Newsletter

    Albinism database (ADB)

    HPS1 mutations

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U65676 mRNA. Translation: AAB17869.1 .
    U79136
    , U79123 , U79124 , U79125 , U79126 , U79127 , U79128 , U79129 , U79130 , U79131 , U79132 , U79133 , U79134 , U79135 Genomic DNA. Translation: AAB70662.1 .
    U96721 mRNA. Translation: AAC52074.1 .
    AF450133 Genomic DNA. Translation: AAL50684.1 .
    AL139243 Genomic DNA. Translation: CAI14152.1 .
    AL139243 Genomic DNA. Translation: CAI14153.1 .
    CH471066 Genomic DNA. Translation: EAW49882.1 .
    BC000175 mRNA. Translation: AAH00175.1 .
    CCDSi CCDS7475.1. [Q92902-1 ]
    CCDS7476.1. [Q92902-3 ]
    RefSeqi NP_000186.2. NM_000195.3. [Q92902-1 ]
    NP_872577.1. NM_182639.2. [Q92902-3 ]
    XP_005269812.1. XM_005269755.2. [Q92902-1 ]
    XP_005269813.1. XM_005269756.2. [Q92902-1 ]
    XP_005269814.1. XM_005269757.2. [Q92902-1 ]
    XP_005269815.1. XM_005269758.1. [Q92902-2 ]
    UniGenei Hs.404568.

    3D structure databases

    ProteinModelPortali Q92902.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109494. 3 interactions.
    IntActi Q92902. 2 interactions.
    STRINGi 9606.ENSP00000326649.

    PTM databases

    PhosphoSitei Q92902.

    Polymorphism databases

    DMDMi 68067891.

    Proteomic databases

    MaxQBi Q92902.
    PaxDbi Q92902.
    PRIDEi Q92902.

    Protocols and materials databases

    DNASUi 3257.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325103 ; ENSP00000326649 ; ENSG00000107521 . [Q92902-1 ]
    ENST00000338546 ; ENSP00000343638 ; ENSG00000107521 . [Q92902-3 ]
    ENST00000361490 ; ENSP00000355310 ; ENSG00000107521 . [Q92902-1 ]
    GeneIDi 3257.
    KEGGi hsa:3257.
    UCSCi uc001kpl.3. human. [Q92902-3 ]
    uc021pwv.1. human. [Q92902-1 ]

    Organism-specific databases

    CTDi 3257.
    GeneCardsi GC10M100165.
    GeneReviewsi HPS1.
    H-InvDB HIX0009106.
    HGNCi HGNC:5163. HPS1.
    HPAi HPA061260.
    MIMi 203300. phenotype.
    604982. gene.
    neXtProti NX_Q92902.
    Orphaneti 231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
    PharmGKBi PA35101.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG83822.
    HOVERGENi HBG004099.
    InParanoidi Q92902.
    OMAi CLPLWPG.
    OrthoDBi EOG7NGQB2.
    PhylomeDBi Q92902.
    TreeFami TF324374.

    Miscellaneous databases

    GeneWikii HPS1.
    GenomeRNAii 3257.
    NextBioi 12941.
    PROi Q92902.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92902.
    Bgeei Q92902.
    CleanExi HS_HPS1.
    Genevestigatori Q92902.

    Family and domain databases

    InterProi IPR026053. HPS1.
    [Graphical view ]
    PANTHERi PTHR12761. PTHR12761. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles."
      Oh J., Bailin T., Fukai K., Feng G.H., Ho L., Mao J.-I., Frenk E., Tamura N., Spritz R.A.
      Nat. Genet. 14:300-306(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), VARIANTS.
    2. "Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene."
      Bailin T., Oh J., Feng G.H., Fukai K., Spritz R.A.
      J. Invest. Dermatol. 108:923-927(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS I; II AND IV), VARIANTS.
    3. "Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico."
      Wildenberg S.C., Fryer J.P., Gardner J.M., Oetting W.S., Brilliant M.H., King R.A.
      J. Invest. Dermatol. 110:777-781(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM III).
    4. "Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection."
      Huizing M., Anikster Y., Gahl W.A.
      Hum. Genet. 106:370-373(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM III).
      Tissue: Placenta.
    8. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
      Oetting W.S., King R.A.
      Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON HPS1 VARIANTS.
    9. "Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity."
      Oh J., Ho L., Ala-Mello S., Amato D., Armstrong L., Bellucci S., Carakushansky G., Ellis J.P., Fong C.-T., Green J.S., Heon E., Legius E., Levin A.V., Nieuwenhuis H.K., Pinckers A., Tamura N., Whiteford M.L., Yamasaki H., Spritz R.A.
      Am. J. Hum. Genet. 62:593-598(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HPS1 ILE-55 DEL.

    Entry informationi

    Entry nameiHPS1_HUMAN
    AccessioniPrimary (citable) accession number: Q92902
    Secondary accession number(s): A8MRT2
    , O15402, O15502, Q5TAA3, Q8WXE5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: June 21, 2005
    Last modified: October 1, 2014
    This is version 137 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3