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HPS5 Gene

protein-coding   GIFtS: 56
GCID: GC11M018300

Hermansky-Pudlak Syndrome 5

  See HPS5-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 51 2     Alpha Integrin Binding Protein 632
Alpha-Integrin-Binding Protein 632 3     Hermansky-Pudlak Syndrome 5 Protein2
Ruby-Eye Protein 2 Homolog2 3     Ru23
AIBP632 3     RU25
KIAA10173 5     

External Ids:    HGNC: 170221   Entrez Gene: 112342   Ensembl: ENSG000001107567   OMIM: 6075215   UniProtKB: Q9UPZ33   

Export aliases for HPS5 gene to outside databases

Previous GC identifers: GC00U991233 GC11M018339 GC11M018264 GC11M018256 GC11M017982


(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 HPS5 Gene:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet
dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact
with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak
syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for HPS5 Gene:
HPS5 (Hermansky-Pudlak syndrome 5) is a protein-coding gene. Diseases associated with HPS5 include hermansky-pudlak syndrome 5, and hermansky-pudlak syndrome 6. An important paralog of this gene is TECPR2.

UniProtKB/Swiss-Prot: HPS5_HUMAN, Q9UPZ3
Function: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as
melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be
involved in the regulation of general functions of integrins

Gene Wiki entry for HPS5 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 at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPS5 gene promoter:
         MyoD   Lmo2   Cdc5   Tal-1beta   GATA-1   Meis-1b   MZF-1   Meis-1a   ITF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPS5 promoter sequence
   Search Chromatin IP Primers for HPS5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPS5


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

Entrez Gene cytogenetic band: 11p14   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p14

HPS5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPS5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M018300:  view genomic region     (about GC identifiers)

Start:
18,300,217 bp from pter      End:
18,343,745 bp from pter
Size:
43,529 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: HPS5_HUMAN, Q9UPZ3 (See protein sequence)
Recommended Name: Hermansky-Pudlak syndrome 5 protein  
Size: 1129 amino acids; 127449 Da
Subunit: Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5
and HPS6. Directly interacts with HPS6. May interact with all alpha-integrin chains that have an aromatic residue
before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6
Sequence caution: Sequence=BAA76861.2; Type=Erroneous initiation;
Secondary accessions: A8K6J8 A8K8S1 D3DQX9 D3DQY0 O95942 Q8N4U0
Alternative splicing: 2 isoforms:  Q9UPZ3-1   Q9UPZ3-2   

Explore the universe of human proteins at neXtProt for HPS5: NX_Q9UPZ3

Explore proteomics data for HPS5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys262
  • Modification sites at PhosphoSitePlus

  • See HPS5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_009147.3  NP_852608.1  NP_852609.1  

    ENSEMBL proteins: 
     ENSP00000379552   ENSP00000265967   ENSP00000399590   ENSP00000437437   ENSP00000441781  
     ENSP00000431758  

    HPS5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HPS5

     
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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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    3 InterPro protein domains:
     IPR017217 BLOC-2_complex_Hps5_subunit
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9UPZ3

    ProtoNet protein and cluster: Q9UPZ3

    UniProtKB/Swiss-Prot: HPS5_HUMAN, Q9UPZ3
    Similarity: Belongs to the HPS5 family


    Find genes that share domains with HPS5           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: HPS5_HUMAN, Q9UPZ3
    Function: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as
    melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be
    involved in the regulation of general functions of integrins

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HPS5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HPS5:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Hps5):
     cardiovascular system  craniofacial  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  no phenotypic analysis  pigmentation 
     renal/urinary system  vision/eye 

    Find genes that share phenotypes with HPS5           About GenesLikeMe

    Animal Models:
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    miRTarBase miRNAs that target HPS5:
    hsa-mir-21-5p (MIRT030698)

    Block miRNA regulation of human, mouse, rat HPS5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HPS5 (see all 22):
    hsa-miR-429 hsa-miR-106a hsa-miR-519a hsa-miR-373* hsa-miR-93 hsa-miR-1183 hsa-miR-200b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidHPS5 3' UTR sequence
    Inhib. RNA
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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 UniProtKB/Swiss-Prot
    HPS5_HUMAN, Q9UPZ3: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    lysosome2
    nucleus2
    vacuole2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with HPS5           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 HPS5
    Interactions:

        Search GeneGlobe Interaction Network for HPS5

    4 Interacting proteins for HPS5 (Q9UPZ33) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPS6Q86YV93I2D: score=2 
    GABARAPL1Q9H0R83I2D: score=1 
    ITGA3P260063I2D: score=1 
    RB1CC1Q8TDY23I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006996organelle organization IEA--
    GO:0007596blood coagulation IEA--
    GO:0043473pigmentation IEA--

    Find genes that share ontologies with HPS5           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 HPS5



    (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 HPS5 gene (3 alternative transcripts): 
    NM_007216.3  NM_181507.1  NM_181508.1  

    Unigene Cluster for HPS5:

    Hermansky-Pudlak syndrome 5
    Hs.437599  [show with all ESTs]
    Unigene Representative Sequence: NM_181507
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396253(uc001mod.1 uc001moe.1 uc001mof.1) ENST00000349215
    ENST00000438420 ENST00000537258 ENST00000352460 ENST00000545561 ENST00000544218
    ENST00000543728 ENST00000531848 ENST00000399287(uc001mog.1) ENST00000589545

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HPS5 (see all 22):
    hsa-miR-429 hsa-miR-106a hsa-miR-519a hsa-miR-373* hsa-miR-93 hsa-miR-1183 hsa-miR-200b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidHPS5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HPS5
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      QuantiTect SYBR Green Assays in human, mouse, rat HPS5
      QuantiFast Probe-based Assays in human, mouse, rat HPS5

    Additional mRNA sequence: 

    AB023234.1 AF534400.1 AF534401.1 AF534402.1 AJ131721.1 AK024320.1 AK291663.1 AK292436.1 
    BC033640.1 

    14 DOTS entries:

    DT.100783194  DT.100783196  DT.40222882  DT.120739187  DT.92014828  DT.120739175  DT.120739178  DT.120739192 
    DT.40268427  DT.92428241  DT.120739108  DT.40289643  DT.455689  DT.99953278 

    Selected AceView cDNA sequences (see all 144):

    AI635671 CA449900 CR626720 BM763537 BU156385 BM853243 AI379643 BG615630 
    AI284160 BQ447318 AA933007 AF534401 BM701876 AA465657 AA886415 BU197387 
    BM788432 NM_181508 AI091638 AI016257 NM_007216 AK024320 NM_181507 CF138588 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HPS5 (see all 18)    About this scheme

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

    ExUns: 8e · 8f ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a ·
    SP1:                                                                          -                                                                 -     -         
    SP2:                                                                          -                                                                 -     -         
    SP3:                                                                          -                                                                 -     -         
    SP4:                                                                    -     -                                                                                 
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for HPS5

    (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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    HPS5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HPS5 Expression
    About this image

    HPS5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPS5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437599

    UniProtKB/Swiss-Prot: HPS5_HUMAN, Q9UPZ3
    Tissue specificity: Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed
    in placenta, kidney, testis ovary, lung and thymus

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS5

    (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 HPS5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hps51 , 5 Hermansky-Pudlak syndrome 5 homolog (human)1, 5 83.98(n)1
    81.44(a)1
      7 (30.56 cM)5
    2466941  NM_001005248.21  NP_001005248.21 
     467604665 
    chicken
    (Gallus gallus)
    Aves HPS51 Hermansky-Pudlak syndrome 5 69.12(n)
    68.19(a)
      423079  XM_004941433.1  XP_004941490.1 
    lizard
    (Anolis carolinensis)
    Reptilia HPS56
    Hermansky-Pudlak syndrome 5
    61(a)
    1 ↔ 1
    1(67709437-67744518)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hps51 Hermansky-Pudlak syndrome 5 65.54(n)
    61.96(a)
      100036709  NM_001097257.1  NP_001090726.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hps51 Hermansky-Pudlak syndrome 5 56.79(n)
    52.84(a)
      100037388  NM_001089539.2  NP_001083008.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta p6
    pink
    22(a)
    1 ↔ 1
    3R(4486625-4489607)
    worm
    (Caenorhabditis elegans)
    Secernentea W09G3.66
    Protein W09G3.6, isoform a
    15(a)
    1 ↔ 1
    I(13814751-13827981) WBGene00012369


    ENSEMBL Gene Tree for HPS5 (if available)
    TreeFam Gene Tree for HPS5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPS5 gene
    TECPR22  
    1 SIMAP similar gene for HPS5 using alignment to 4 protein entries:     HPS5_HUMAN (see all proteins):
    HGRHSV1

    Find genes that share paralogs with HPS5           About GenesLikeMe



    (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 HPS5 (see all 1096)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs618842881,2,,4
    C,FHermansky-Pudlak syndrome 5 (HPS5)4 pathogenic118227642(+) CGCAGG/ATTCTG 6 /T /I mis14Minor allele frequency- A:0.03NA EU 5997
    VAR_0622854
    Hermansky-Pudlak syndrome 5 (HPS5)4--see VAR_0622852 L R mis40--------
    rs356848911,2
    C--17984992(+) AAAAA-/GTTCTA 3 -- int10--------
    rs753373711,2
    C--17984992(+) AAAAAA/GTTCTA 3 -- int10--------
    rs2016920511,2
    --17985308(+) GCATT-/ATTTTT 3 -- int10--------
    rs1400059681,2
    --17985309(+) GCATTA/TTTTTT 3 -- int10--------
    rs113746021,2
    C--18007334(+) CCCATA/-GAAAA 3 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs2016459441,2
    --18011825(+) AAAAC-/TGTTTGT 3 -- int10--------
    rs113129821,2
    C--18023375(+) CATAA-/AAA/  
      G
    /TAAG
    CAAAC
    6 -- int1 cds11NA 2
    rs591505781,2
    C--18023375(+) CATAAA/GCAAAC 3 -- int13Minor allele frequency- G:0.17NA WA 6

    HapMap Linkage Disequilibrium report for HPS5 (18300217 - 18343745 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HPS5: --
    Human Gene Mutation Database (HGMD): HPS5
    Locus Specific Mutation Databases (LSDB): HPS5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPS5
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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.)
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    OMIM gene information: 607521   
    OMIM disorders: 614074  
    UniProtKB/Swiss-Prot: HPS5_HUMAN, Q9UPZ3
  • Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: 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

  • 5 diseases for HPS5:    
    About MalaCards
    hermansky-pudlak syndrome 5    hermansky-pudlak syndrome 6    hermansky-pudlak syndrome 3    hermansky-pudlak syndrome
    platelet storage pool deficiency

    3 diseases from the University of Copenhagen DISEASES database for HPS5:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency

    Find genes that share disorders with HPS5           About GenesLikeMe

    1 Novoseek inferred disease relationship for HPS5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hermansky-pudlak syndrome 93.9 1 15030569 (1)

    GeneTests: HPS5
    GeneReviews: HPS5
    Genetic Association Database (GAD): HPS5
    Human Genome Epidemiology (HuGE) Navigator: HPS5 (1 document)

    Export disorders for HPS5 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 HPS5 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with HPS5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    2. Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains. (PubMed id 10094488)1, 2, 3 Wixler V.... Aumailley M. (FEBS Lett. 1999)
    3. Improper trafficking of melanocyte-specific proteins in Hermansky- Pudlak syndrome type-5. (PubMed id 17301833)1, 2, 9 Helip-Wooley A.... Gahl W.A. (J. Invest. Dermatol. 2007)
    4. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. (PubMed id 15030569)1, 2, 9 Di Pietro S.M.... Dell'Angelica E.C. (Traffic 2004)
    5. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (PubMed id 15296495)1, 2, 9 Huizing M.... Gahl W.A. (Traffic 2004)
    6. Human metabolic individuality in biomedical and pharmaceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (Nature 2011)
    7. Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. (PubMed id 21124955)1, 4 Marzi C....Gieger C. (PLoS Genet. 2010)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (PubMed id 12548288)1, 2 Zhang Q.... Swank R.T. (Nat. Genet. 2003)

    (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)
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    Entrez Gene: 11234 HGNC: 17022 AceView: HPS5 Ensembl:ENSG00000110756 euGenes: HUgn11234
    ECgene: HPS5 H-InvDB: HPS5

    (According to HUGE)
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    HUGE: KIAA1017

    (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 HPS5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPS5[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 HPS5 gene:
    Search GeneIP for patents involving HPS5

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



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