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HPS3 Gene

protein-coding   GIFtS: 57
GCID: GC03P148847

Hermansky-Pudlak Syndrome 3

  See 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 31 2
SUTAL2
Hermansky-Pudlak Syndrome 3 Protein2

External Ids:    HGNC: 155971   Entrez Gene: 843432   Ensembl: ENSG000001637557   OMIM: 6061185   UniProtKB: Q969F93   

Export aliases for HPS3 gene to outside databases

Previous GC identifers: GC03P145796 GC03P149732 GC03P150128 GC03P150168 GC03P150330 GC03P146218


(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 HPS3 Gene:
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and
tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a
role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in
this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full
length sequence has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for HPS3 Gene:
HPS3 (Hermansky-Pudlak syndrome 3) is a protein-coding gene. Diseases associated with HPS3 include hermansky-pudlak syndrome 3, and hermansky-pudlak syndrome 6.

UniProtKB/Swiss-Prot: HPS3_HUMAN, Q969F9
Function: Involved in early stages of melanosome biogenesis and maturation (By similarity)

Gene Wiki entry for HPS3 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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPS3 gene promoter:
         GR   GR-beta   Nkx5-1   AP-2gamma   GATA-2   AREB6   AP-2beta   GR-alpha   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPS3 promoter sequence
   Search Chromatin IP Primers for HPS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPS3


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

Entrez Gene cytogenetic band: 3q24   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q24

HPS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPS3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P148847:  view genomic region     (about GC identifiers)

Start:
148,847,371 bp from pter      End:
148,891,519 bp from pter
Size:
44,149 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HPS3_HUMAN, Q969F9 (See protein sequence)
Recommended Name: Hermansky-Pudlak syndrome 3 protein  
Size: 1004 amino acids; 113736 Da
Sequence caution: Sequence=AAH16901.1; Type=Erroneous initiation; Sequence=AAH22062.2; Type=Erroneous initiation;
Sequence=BAB71221.1; Type=Erroneous initiation;
Secondary accessions: A8K6G6 Q8WTV6 Q96AP1 Q96MR3 Q9H608
Alternative splicing: 2 isoforms:  Q969F9-1   Q969F9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HPS3: NX_Q969F9

Explore proteomics data for HPS3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys938
  • Modification sites at PhosphoSitePlus

  • See HPS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115759.2  
    ENSEMBL proteins: 
     ENSP00000296051   ENSP00000418230   ENSP00000419824  

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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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    2 InterPro protein domains:
     IPR028167 HPS3_central_dom
     IPR017216 HPS3

    Graphical View of Domain Structure for InterPro Entry Q969F9

    ProtoNet protein and cluster: Q969F9


    HPS3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPS3_HUMAN, Q969F9
    Function: Involved in early stages of melanosome biogenesis and maturation (By similarity)

    Phenotypes:
         2 GenomeRNAi human phenotypes for HPS3:

     G0/1 arrest  Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Hps3):
     hematopoietic system  homeostasis/metabolism  immune system  integument  no phenotypic analysis 
     pigmentation  vision/eye 

    HPS3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HPS3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HPS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HPS3

    miRNA
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    miRTarBase miRNAs that target HPS3:
    hsa-mir-636 (MIRT039577)

    Block miRNA regulation of human, mouse, rat HPS3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HPS3:
    hsa-miR-138-1* hsa-miR-203 hsa-miR-579 hsa-miR-875-3p hsa-miR-607 hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidHPS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HPS3

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS3


    (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 UniProtKB/Swiss-Prot
    HPS3_HUMAN, Q969F9: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    lysosome2
    nucleus2
    vacuole2
    cytoskeleton1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0031084BLOC-2 complex IPI15030569

    HPS3 for ontologies           About GeneDecksing


    (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 HPS3
    Interactions:

        GeneGlobe Interaction Network for HPS3

    1 Interacting protein for HPS3 (Q969F93) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1Q9H0R83I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006996organelle organization IEA--
    GO:0043473pigmentation IEA--

    HPS3 for ontologies           About GeneDecksing



    (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 HPS3



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HPS3 gene: 
    NM_032383.3  

    Unigene Cluster for HPS3:

    Hermansky-Pudlak syndrome 3
    Hs.591311  [show with all ESTs]
    Unigene Representative Sequence: NM_032383
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296051(uc003ewu.1 uc011bnq.1 uc003ewv.1) ENST00000462030(uc021xfk.1)
    ENST00000460120 ENST00000494327 ENST00000486530 ENST00000460822 ENST00000478525

    miRNA
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    Block miRNA regulation of human, mouse, rat HPS3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HPS3:
    hsa-miR-138-1* hsa-miR-203 hsa-miR-579 hsa-miR-875-3p hsa-miR-607 hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidHPS3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HPS3
    Predesigned siRNA for gene silencing in human, mouse, rat HPS3
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    GenScript: all cDNA clones in your preferred vector: HPS3 (NM_032383)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS3
    Primer
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    OriGene qPCR primer pairs and template standards for HPS3
    OriGene qSTAR qPCR primer pairs in human, mouse for HPS3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HPS3
      QuantiTect SYBR Green Assays in human, mouse, rat HPS3
      QuantiFast Probe-based Assays in human, mouse, rat HPS3

    Additional mRNA sequence: 

    AK026357.1 AK055245.1 AK056575.1 AK291631.1 AK298478.1 AL832735.1 AL833878.1 AY033141.1 
    BC016901.1 BC022062.2 BC040359.1 

    15 DOTS entries:

    DT.99938433  DT.91950059  DT.40113246  DT.410391  DT.75102599  DT.100696450  DT.451537  DT.120917779 
    DT.95169645  DT.120917700  DT.120917781  DT.120917785  DT.100035622  DT.100037817  DT.86844594 

    Selected AceView cDNA sequences (see all 148):

    BX496147 AK055245 CD722142 CR622327 NM_032383 BC022062 AV661582 AA953507 
    AY033141 AI827087 AI498559 CR600710 BM784033 BE065666 AV661225 AI194079 
    CB241738 CA432494 BI770141 BP358288 BI091876 AW089848 BE065669 BX348597 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HPS3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18
    SP1:                    -                                               -                                                                             -         
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -     -                                                                                                                                 


    ECgene alternative splicing isoforms for HPS3

    (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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    HPS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTTTCAG
    HPS3 Expression
    About this image

    HPS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591311

    UniProtKB/Swiss-Prot: HPS3_HUMAN, Q969F9
    Tissue specificity: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS3

    (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 chordates.

    Orthologs for HPS3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hps31 , 5 Hermansky-Pudlak syndrome 3 homolog (human)1, 5 83.8(n)1
    81.14(a)1
      3 (6.12 cM)5
    128071  NM_080634.41  NP_542365.31 
     199959455 
    chicken
    (Gallus gallus)
    Aves HPS31 Hermansky-Pudlak syndrome 3 67.9(n)
    59.72(a)
      425047  XM_422849.4  XP_422849.2 
    lizard
    (Anolis carolinensis)
    Reptilia HPS36
    Hermansky-Pudlak syndrome 3
    61(a)
    1 ↔ 1
    AAWZ02038578(1022-10100)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041292.12   -- 74.94(n)    BC041292.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CB359057.12   -- 72.43(n)    CB359057.1 


    ENSEMBL Gene Tree for HPS3 (if available)
    TreeFam Gene Tree for HPS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPS3 gene
    1 SIMAP similar gene for HPS3 using alignment to 5 protein entries:     HPS3_HUMAN (see all proteins):
    DKFZp762O156

    HPS3 for paralogs           About GeneDecksing



    (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 HPS3 (see all 827)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359284
    A colorectal cancer sample4--see VAR_0359282 R Q mis40--------
    VAR_0132514
    Hermansky-Pudlak syndrome 3 (HPS3)4--see VAR_0132512 R W mis40--------
    rs2012276031,2
    Cpathogenic1148863334(-) CAGTAC/TCTTGT 1 -- spd11Minor allele frequency- T:0.00EU 1323
    rs1219083161,2
    Cpathogenic1148868411(+) CTGTGC/TGGTGC 2 R W mis10--------
    rs1430823761,2
    --148845480(+) CAGAGA/TGCTAC 1 -- us2k10--------
    rs743950201,2
    C,F--148845508(+) TGGGCT/CAAATT 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs1820777191,2
    --148845516(+) ATTGTA/GTCTTC 1 -- us2k10--------
    rs1878871361,2
    --148845632(+) GGTGGG/TTCCTA 1 -- us2k10--------
    rs769888361,2
    C,F--148845643(+) ATCTAA/GTATGG 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1482099891,2
    C--148845646(+) TAATAC/TGGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HPS3 (148847371 - 148891519 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HPS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672056CNV Deletion23128226

    Human Gene Mutation Database (HGMD): HPS3
    Locus Specific Mutation Databases (LSDB): HPS3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPS3
    DNA2.0 Custom Variant and Variant Library Synthesis for HPS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606118   
    OMIM disorders: 614072  
    UniProtKB/Swiss-Prot: HPS3_HUMAN, Q969F9
  • Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]: 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

  • 13 diseases for HPS3:    About MalaCards
    hermansky-pudlak syndrome 3    hermansky-pudlak syndrome 6    oculocutaneous albinism type 1    platelet storage pool deficiency
    hermansky-pudlak syndrome    oculocutaneous albinism    albinism    pulmonary fibrosis
    crohn's disease    breast and colorectal cancer    multiple myeloma    myeloma
    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for HPS3:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency     Pulmonary fibrosis

    HPS3 for disorders           About GeneDecksing

    GeneTests: HPS3
    GeneReviews: HPS3
    Genetic Association Database (GAD): HPS3
    Human Genome Epidemiology (HuGE) Navigator: HPS3 (2 documents)

    Export disorders for HPS3 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)
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    PubMed articles for HPS3 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with HPS3)
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    1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. (PubMed id 11455388)1, 2, 3, 9 Anikster Y.... Toro J.R. (Nat. Genet. 2001)
    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. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (PubMed id 11590544)1, 2, 9 Huizing M.... Gahl W.A. (Am. J. Hum. Genet. 2001)
    4. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. (PubMed id 20562649)1, 4 Torres-Serrant M....Santiago-Borrero P.J. (J. Pediatr. Hematol. Oncol. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (PubMed id 15632015)1, 9 Boissy R.E....Gahl W.A. (Am. J. Pathol. 2005)
    8. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. (PubMed id 16159387)1, 9 Helip-Wooley A....Huizing M. (BMC Cell Biol. 2005)
    9. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. (PubMed id 15030569)1, 9 Di Pietro S.M.... Dell'Angelica E.C. (Traffic 2004)
    10. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PubMed id 23084991)1 Gerondopoulos A....Barr F.A. (Curr. Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84343 HGNC: 15597 AceView: HPS3 Ensembl:ENSG00000163755 euGenes: HUgn84343
    ECgene: HPS3 H-InvDB: HPS3

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for HPS3 Pharmacogenomics, SNPs, Pathways
    Mutations of the HPS3 genehttp://www.retina-international.org/files/sci-news/hps3mut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/hps3mut.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPS3[genesymbol]

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    Patent Information for HPS3 gene:
    Search GeneIP for patents involving HPS3

    GeneCards and IP:
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