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HPS1 Gene

protein-coding   GIFtS: 58
GCID: GC10M100165

Hermansky-Pudlak Syndrome 1

(Previous name: Hermansky-Pudlak syndrome)
(Previous symbol: HPS)
  See HPS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hermansky-Pudlak Syndrome 11 2
HPS1 2 3
Hermansky-Pudlak Syndrome1
Hermansky-Pudlak Syndrome 1 Protein2

External Ids:    HGNC: 51631   Entrez Gene: 32572   Ensembl: ENSG000001075217   OMIM: 6049825   UniProtKB: Q929023   

Export aliases for HPS1 gene to outside databases

Previous GC identifers: GC10M099069 GC10M099409 GC10M100307 GC10M099840 GC10M093800


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HPS1 Gene:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet
dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed
biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are
associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have
been identified for this gene; the full-length sequences of some of these have not been determined yet. (provided
by RefSeq, Jul 2008)

GeneCards Summary for HPS1 Gene:
HPS1 (Hermansky-Pudlak syndrome 1) is a protein-coding gene. Diseases associated with HPS1 include hermansky-pudlak syndrome 1, and oculocutaneous albinism type 1. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902
Function: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and
function. May be involved in intracellular protein sorting

Gene Wiki entry for HPS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPS1 gene promoter:
         AhR   GATA-3   AML1a   LCR-F1   GATA-2   GATA-1   C/EBPalpha   E47   HFH-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPS1 promoter sequence
   Search Chromatin IP Primers for HPS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.1-q23.3   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q23.1-q23.3

HPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M100165:  view genomic region     (about GC identifiers)

Start:
100,175,955 bp from pter      End:
100,206,704 bp from pter
Size:
30,750 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902 (See protein sequence)
Recommended Name: Hermansky-Pudlak syndrome 1 protein  
Size: 700 amino acids; 79292 Da
Secondary accessions: A8MRT2 O15402 O15502 Q5TAA3 Q8WXE5
Alternative splicing: 4 isoforms:  Q92902-1   Q92902-2   Q92902-3   Q92902-4   

Explore the universe of human proteins at neXtProt for HPS1: NX_Q92902

Explore proteomics data for HPS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys518
  • Modification sites at PhosphoSitePlus

  • See HPS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000186.2  NP_872577.1  

    ENSEMBL proteins: 
     ENSP00000355310   ENSP00000326649   ENSP00000352652   ENSP00000343638   ENSP00000392462  

    HPS1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HPS1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026053 HPS1

    Graphical View of Domain Structure for InterPro Entry Q92902

    ProtoNet protein and cluster: Q92902


    Find genes that share domains with HPS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPS1_HUMAN, Q92902
    Function: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and
    function. May be involved in intracellular protein sorting

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12756248
    GO:0046983protein dimerization activity IPI12663659
         
    Find genes that share ontologies with HPS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HPS1:
     Synthetic lethal with paclitax 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hps1):
     cardiovascular system  cellular  craniofacial  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 
     no phenotypic analysis  pigmentation  renal/urinary system  respiratory system  vision/eye 

    Find genes that share phenotypes with HPS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HPS1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HPS1
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    miRTarBase miRNAs that target HPS1:
    hsa-mir-93-5p (MIRT048904), hsa-mir-331-3p (MIRT043286)

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome4
    plasma membrane4
    vacuole4
    cytosol2
    nucleus2
    endosome1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10625677
    GO:0005764lysosome TAS10625677
    GO:0005887integral component of plasma membrane TAS8896559
    GO:0016023cytoplasmic membrane-bounded vesicle IDA11836498
    GO:0031085BLOC-3 complex IPI12756248

    Find genes that share ontologies with HPS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HPS1
    Interactions:

        GeneGlobe Interaction Network for HPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for HPS1 (Q929021, 3 ENSP000003266494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPS4Q9NQG71, 3, ENSP000003384574EBI-704347,EBI-704377 I2D: score=2 STRING: ENSP00000338457
    ARRB1ENSP000003771414STRING: ENSP00000377141
    ARRB2ENSP000002692604STRING: ENSP00000269260
    RCC1ENSP000003629374STRING: ENSP00000362937
    MYCENSP000003672074STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006996organelle organization ----
    GO:0007040lysosome organization TAS10625677
    GO:0007596blood coagulation IEA--
    GO:0007601visual perception IEA--
    GO:0030318melanocyte differentiation IEA--

    Find genes that share ontologies with HPS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HPS1

    2 Novoseek inferred chemical compound relationships for HPS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protamine 37.7 1 2397030 (1)
    levodopa 17.5 1 11564171 (1)



    Find genes that share compounds with HPS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HPS1 gene (4 alternative transcripts): 
    NM_000195.3  NM_182639.2  NM_182637.1  NM_182638.1  

    Unigene Cluster for HPS1:

    Hermansky-Pudlak syndrome 1
    Hs.404568  [show with all ESTs]
    Unigene Representative Sequence: NM_000195
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361490 ENST00000325103(uc021pwv.1 uc010qph.1) ENST00000467246(uc010qpg.2 uc009xwb.3)
    ENST00000462743 ENST00000359632 ENST00000478087 ENST00000470095 ENST00000497527
    ENST00000498219 ENST00000338546(uc001kpl.3) ENST00000414009 ENST00000480020
    ENST00000474873 ENST00000465957
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): HPS1 (NM_000195)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HPS1
      QuantiTect SYBR Green Assays in human, mouse, rat HPS1
      QuantiFast Probe-based Assays in human, mouse, rat HPS1

    Additional mRNA sequence: 

    AK295821.1 AL833734.1 BC000175.2 BC002514.2 BC127087.1 BX647296.1 U65676.1 U96721.1 

    24 DOTS entries:

    DT.116671  DT.451648  DT.101985039  DT.101985040  DT.100814780  DT.433824  DT.95153127  DT.95153140 
    DT.100759743  DT.100814786  DT.121290327  DT.95109317  DT.95153143  DT.97847486  DT.100658435  DT.100683337 
    DT.121290326  DT.100814779  DT.95313359  DT.97797952  DT.100814787  DT.116675  DT.121290342  DT.95153126 

    Selected AceView cDNA sequences (see all 218):

    CR592714 BU629693 BC000175 NM_000195 AK123386 BM909452 NM_182639 CB241876 
    BQ278880 AI381211 BX451587 AW675059 CR598347 CR609635 AW674329 BQ672991 
    AA248384 BI518436 BE514812 AI091137 AI341259 CR600212 BG252361 AA362479 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HPS1 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^
    SP1:                                -                 -     -                                   -                 -                 -           -           -   
    SP2:                                                                                                                                -                       -   
    SP3:                                -                 -     -                 -     -     -     -           -     -                 -                           
    SP4:                                                                                            -                 -     -     -     -     -     -     -     -   
    SP5:                                                                                            -           -     -                 -           -           -   

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
    SP1:        -                                                           -                     
    SP2:        -                                                                                 
    SP3:                                                                                          
    SP4:        -                                                                                 
    SP5:                                                                                          


    ECgene alternative splicing isoforms for HPS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HPS1 Expression
    About this image

    HPS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.404568

    UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for HPS1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HPS1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hps11 , 5 Hermansky-Pudlak syndrome 1 homolog (human)1, 5 83.57(n)1
    81.38(a)1
      19 (36.56 cM)5
    1922361  NM_019424.21  NP_062297.11 
     427551055 
    chicken
    (Gallus gallus)
    Aves HPS11 Hermansky-Pudlak syndrome 1 70.74(n)
    64.24(a)
      429879  NM_001031580.1  NP_001026751.1 
    lizard
    (Anolis carolinensis)
    Reptilia HPS16
    Hermansky-Pudlak syndrome 1
    60(a)
    1 ↔ 1
    3(38747491-38769377)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324722 Xenopus laevis transcribed sequence with weak similarity more 73.39(n)    BU906884.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hps11 Hermansky-Pudlak syndrome 1 62.56(n)
    56.53(a)
      563067  NM_001037688.1  NP_001032777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HPS16
    Hermansky-Pudlak Syndrome 1 ortholog
    26(a)
    1 ↔ 1
    2R(10742947-10745007)


    ENSEMBL Gene Tree for HPS1 (if available)
    TreeFam Gene Tree for HPS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPS1 gene
    1 SIMAP similar gene for HPS1 using alignment to 5 protein entries:     HPS1_HUMAN (see all proteins):
    DKFZp666K145

    Find genes that share paralogs with HPS1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HPS1
    PGOHUM00000250325


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HPS1 (see all 871)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1390612601,2
    C,Fnon-pathogenic1100539765(+) GAGGAC/TGGGCA 2 I V mis11Minor allele frequency- T:0.00NA 4552
    rs22964361,2,,4
    C,F,Hnon-pathogenic1100541632(-) GTTCCA/GGGAGG 2 Q R mis1 ese3 trp331Minor allele frequency- G:0.11EA NA NS WA CSA EU 10284
    rs22964341,2,,4
    C,F,Hnon-pathogenic1100545351(-) AGCCCC/GCAGCA 2 P R mis1 ese313Minor allele frequency- G:0.10NS EA NA WA CSA EU 6498
    rs115922731,2,,4
    C,F,Hnon-pathogenic1100551349(+) CCCCCA/C/G/
            
    AGTTG
    4 G W mis1 ese317NS EA NA WA EU 7367
    rs1219083851,2
    Cpathogenic1100539209(-) GCTACG/TAGCTG 2 E * stg10--------
    rs1219083861,2
    Cpathogenic1100556811(-) GAAAGA/G/TAGTGA 4 E * stg11NA 4552
    rs115915551,2
    C,F,A,H--100193515(+) AAATTG/ACATTA 2 -- int14Minor allele frequency- A:0.24NA 130
    rs115957631,2
    C,F,A,H--100193526(+) AAAGTA/CTGTGT 2 -- int19Minor allele frequency- C:0.11NS EA NA 654
    rs586400791,2
    C--100194653(+) GAGAGAG/-TCTGA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs350439061,2
    C,F--100199033(+) CCCCAG/CAATGG 2 -- int14Minor allele frequency- C:0.05NA 126

    HapMap Linkage Disequilibrium report for HPS1 (100175955 - 100206704 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HPS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524427CNV Loss19592680
    nsv515723CNV Loss19592680
    nsv895915CNV Loss21882294
    nsv831955CNV Gain17160897

    Human Gene Mutation Database (HGMD): HPS1
    Locus Specific Mutation Databases (LSDB): HPS1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPS1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604982   
    OMIM disorders: 203300  
    UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 6 diseases for HPS1:    
    About MalaCards
    hermansky-pudlak syndrome 1    oculocutaneous albinism type 1    intestinal disease    hermansky-pudlak syndrome
    platelet storage pool deficiency    chediak-higashi syndrome

    4 diseases from the University of Copenhagen DISEASES database for HPS1:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency     Pulmonary fibrosis

    Find genes that share disorders with HPS1           About GenesLikeMe

    6 Novoseek inferred disease relationships for HPS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hermansky-pudlak syndrome 98.4 20 15020272 (3), 10631210 (2), 15519141 (1), 11564171 (1) (see all 16)
    albinism 81.7 2 16185271 (1), 10768343 (1)
    pulmonary fibrosis 78.4 6 10631210 (3), 15086836 (1), 15127980 (1), 19729668 (1)
    nevi melanocytic 45 3 15982315 (2)
    bleeding 41 1 15020272 (1)
    melanoma 0 2 11836498 (1), 11564171 (1)

    GeneTests: HPS1
    GeneReviews: HPS1
    Genetic Association Database (GAD): HPS1
    Human Genome Epidemiology (HuGE) Navigator: HPS1 (8 documents)

    Export disorders for HPS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for HPS1 gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with HPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a partial pseudogene homologous to the Hermansky- Pudlak syndrome gene HPS-1; relevance for mutation detection. (PubMed id 10798370)1, 2, 9 Huizing M.... Gahl W.A. (Hum. Genet. 2000)
    2. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (PubMed id 16417222)1, 4, 9 Santiago Borrero P.J....Cadilla C.L. (J. Invest. Dermatol. 2006)
    3. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PubMed id 19865097)1, 4, 9 Wei A....Li W. (J. Invest. Dermatol. 2010)
    4. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PubMed id 18463683)1, 4, 9 Hutton S.M. and Spritz R.A. (J. Invest. Dermatol. 2008)
    5. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4, 9 Luke M.M....Psaty B.M. ( a journal of cerebral circulation 2009)
    6. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4 Fernandez L.P....Ribas G. (Exp. Dermatol. 2009)
    7. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PubMed id 17975119)1, 4 Shiffman D....Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    9. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. (PubMed id 16431308)1, 4 Hussain N....Mannon P. (Clin. Gastroenterol. Hepatol. 2006)
    10. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. (PubMed id 9579545)1, 2 Wildenberg S.C.... King R.A. (J. Invest. Dermatol. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 3257 HGNC: 5163 AceView: HPS1andC10orf33 Ensembl:ENSG00000107521 euGenes: HUgn3257
    ECgene: HPS1 H-InvDB: HPS1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HPS1 Pharmacogenomics, SNPs, Pathways
    Mutations of the HPS genehttp://www.retina-international.org/files/sci-news/epmut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/hps1mut.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HPS1 gene:
    Search GeneIP for patents involving HPS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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