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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HPS1 Gene

protein-coding   GIFtS: 54
GCID: GC10M100165

Hermansky-Pudlak syndrome 1

(Previous name: Hermansky-Pudlak syndrome )
(Previous symbol: HPS)
 Explore 21 diseases affiliated with
HPS1 via our new
 Human Malady Compendium 
Biological research products
for HPS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HPS1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HPS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92902

  • HPS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000326649   ENSP00000355310   ENSP00000352652   ENSP00000343638   ENSP00000392462  

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    Uscn Proteins for HPS1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm TAS10625677
    GO:0005764lysosome TAS10625677
    GO:0005887integral to plasma membrane TAS8896559


    HPS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HPS1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026053 HPS1

    Graphical View of Domain Structure for InterPro Entry Q92902

    ProtoNet protein and cluster: Q92902


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12756248
    GO:0046983protein dimerization activity IPI12663659


    HPS1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HPS1:
     Synthetic lethal with paclitax 

    Animal Models:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hps1):
     cardiovascular system  cellular  craniofacial  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  pigmentation 
     renal/urinary system  respiratory system  vision/eye 

    HPS1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HPS1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 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
    MYCENSP000003672074STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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--


    HPS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HPS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HPS1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about HPS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
    ENST00000325103(uc021pwv.1 uc010qph.1) ENST00000361490 ENST00000467246(uc010qpg.2 uc009xwb.3)
    ENST00000462743 ENST00000478087 ENST00000359632 ENST00000470095 ENST00000497527
    ENST00000498219 ENST00000338546(uc001kpl.3) ENST00000414009 ENST00000480020
    ENST00000474873 ENST00000465957

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    Inhib. RNA
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    Additional cDNA 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 

    24/218 AceView cDNA sequences (see all 218):

    CR593191 CD673355 Z40097 CR600212 BX451587 BM758873 NM_000195 BG388727 
    NM_182638 AA334371 BU629693 BX092521 AK123386 CA488995 CR609635 AI091137 
    BX282181 CF125945 AK074429 BE747083 BU196145 AA608965 BQ278880 BU172907 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HPS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HPS1

    SOURCE GeneReport for Unigene cluster: Hs.404568

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

        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HPS1 gene from 6/16 species (see all 16)    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 70.83(n)
    64.24(a)
      429879  NM_001031580.1  NP_001026751.1 
    lizard
    (Anolis carolinensis)
    Reptilia HPS16
    --
    59(a)
    1 ↔ 1
    3(38747538-38769377)
    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 62.41(n)
    56.38(a)
      563067  NM_001037688.1  NP_001032777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HPS16
    Hermansky-Pudlak Syndrome 1 ortholog
    24(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)
    About This Section
    Paralogs for HPS1 gene
    1 SIMAP similar gene for HPS1 using alignment to 5 protein entries:     HPS1_HUMAN (see all proteins):
    DKFZp666K145

    HPS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HPS1
    PGOHUM00000250325


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/680 NCBI SNPs in HPS1 are shown (see all 680    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083861,2
    Cpathogenic94419865(-) GAAAGA/G/TAGTGA 4 E * stg11NA 4552
    rs1219083851,2
    Cpathogenic94437379(-) GCTACG/TAGCTG 2 E * stg10--------
    rs794001401,2
    F,--93800732(+) GGTTCC/TGAGGA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1140824411,2
    C,F,--93801240(+) GTGGAC/TGCTGA 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs1133210431,2
    --93801558(+) GGACTC/TAGCAA 1 -- ut311Minor allele frequency- T:0.00CSA 1
    rs1147940631,2
    C,F,--93801696(+) CCATCG/ACTTTA 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1112725181,2
    --93803056(+) AGGGCA/CGGCAG 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs801468931,2
    C,F,--93803253(+) TGGACG/ATGCCG 1 -- int11Minor allele frequency- A:0.02NA 120
    rs786027941,2
    F,--93803441(+) CACGGG/AGCCAC 1 -- int11Minor allele frequency- A:0.03NA 120
    rs111895991,2
    C,A,H,--93803550(+) GGCACG/AGAGGA 1 -- int14Minor allele frequency- A:0.05NS EA WA 412

    HapMap Linkage Disequilibrium report for HPS1 (100175955 - 100206704 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HPS1
         1 CNV: 48389
    Human Gene Mutation Database (HGMD): HPS1

    Locus Specific Mutation Databases (LSDB): 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

    HPS1 for disorders           About GeneDecksing

    OMIM gene information: 604982   
    OMIM disorders: 203300  
    UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902
  • Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlak
  • syndrome (HPS) is a genetically heterogeneous, rare, 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

    20/21 diseases for HPS1 (see all 21):    About MalaCards
    hermansky-pudlak syndrome    hermansky-pudlak syndrome 1    platelet storage pool deficiency    chediak-higashi syndrome
    oculocutaneous albinism type 1    oculocutaneous albinism    albinism    ocular albinism
    piebaldism    systemic lupus erythematosus    lupus erythematosus    pulmonary function
    nevus    pulmonary fibrosis    intestinal disease    was-related disorders
    fibrosis    crohn's disease    alzheimer's disease    melanoma

    2 diseases from the University of Copenhagen DISEASES database for HPS1:
    Hermansky-Pudlak syndrome     Piebaldism

    6 Novoseek 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
    Hermansky-Pudlak Syndrome

    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

    PubMed articles for HPS1 gene, integrated from 9 sources (see all 81):
    (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. (2000)
    2. 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. (1998)
    3. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. (PubMed id 9497254)1, 2 Oh J.... Spritz R.A. (1998)
    4. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. (PubMed id 9182823)1, 2 Bailin T.... Spritz R.A. (1997)
    5. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. (PubMed id 8896559)1, 2 Oh J.... Spritz R.A. (1996)
    6. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. (PubMed id 7573033)1, 3 Wildenberg S.C....King R.A. (1995)
    7. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (PubMed id 8541858)1, 3 Fukai K....Spritz R.A. (1995)
    8. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PubMed id 11836498)1, 9 Suzuki T.... Spritz R.A. (2002)
    9. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (PubMed id 12442288)1, 9 Hermos C.R....Gahl W.A. (2002)
    10. Compound heterozygous mutations in 2 siblings with He rmansky-Pudlak syndrome type 1 (HPS1). (PubMed id 20514622)1, 9 Sandrock K....Zieger B. (2010)

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/HPS1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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