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

HPS5 Gene

protein-coding   GIFtS: 52
GCID: GC11M018300

Hermansky-Pudlak syndrome 5

 Explore 9 diseases affiliated with
HPS5 via our new
 Human Malady Compendium 
Biological research products
for HPS5
    

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

Entrez Gene summary for HPS5:
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)

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


(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_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HPS5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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
Subcellular location: Cytoplasm, cytosol
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPZ3

  • HPS5 Protein expression data from MOPED and PaxDb:    About this image 
    HPS5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_009147.3  NP_852608.1  NP_852609.1  

    ENSEMBL proteins: 
     ENSP00000379552   ENSP00000265967   ENSP00000399590   ENSP00000437437   ENSP00000441781  
     ENSP00000431758  

    Human Recombinant Protein Products for HPS5: 
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    Novus Biologicals HPS5 Protein
    Novus Biologicals HPS5 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HPS5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    HPS5 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

    HPS5 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


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

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    HPS5 for ontologies           About GeneDecksing


    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 

    HPS5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HPS5 

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


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    HPS5 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HPS5
    Search CenterWatch for drugs/clinical trials and news about HPS5 

    (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, Sirion Biotech, 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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HPS5
    8/22 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HPS5 (see all 7)
    OriGene shRNA RFP: HPS5
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPS5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPS5

    Additional cDNA 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 

    24/144 AceView cDNA sequences (see all 144):

    AA886415 AI284160 BU197387 AA213555 AK024320 NM_181508 CD516199 AA465657 
    AW769857 BU160716 BI862374 CR626720 BQ212690 BU156385 AI016257 BM701876 
    CA449900 BM763537 AI091638 NM_007216 AL583178 AF534401 CF138588 AI635671 

    GeneLoc Exon Structure

    5/18 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™, 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

    HPS5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    HPS5 Expression
    About this image
    See HPS5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HPS5

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HPS5 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HPS51 Hermansky-Pudlak syndrome 5 69.23(n)
    68.19(a)
      423079  XM_421011.3  XP_421011.3 
    lizard
    (Anolis carolinensis)
    Reptilia HPS56
    --
    64(a)
    1 ↔ 1
    1(67719120-67744471)
    zebrafish
    (Danio rerio)
    Actinopterygii hps51 Hermansky-Pudlak syndrome 5 56.78(n)
    52.89(a)
      100037388  NM_001089539.2  NP_001083008.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta p6
    pink
    19(a)
    1 ↔ 1
    3R(4486625-4489607)
    worm
    (Caenorhabditis elegans)
    Secernentea W09G3.66
    Protein W09G3.6, isoform a
    12(a)
    1 ↔ 1
    I(13814739-13827969)


    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)
    About This Section
    Paralogs for HPS5 gene
    TECPR22  
    1 SIMAP similar gene for HPS5 using alignment to 4 protein entries:     HPS5_HUMAN (see all proteins):
    HGRHSV1

    HPS5 for paralogs           About GeneDecksing



    (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

    10/801 NCBI SNPs in HPS5 are shown (see all 801    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1117212181,2
    C--17982502(+) GAGACG/AGGGTT 3 -- ds50011Minor allele frequency- A:0.50WA 2
    rs563517201,2
    C--17982662(+) TGTAAG/ATTTAA 3 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1124565641,2
    --17982864(+) AATGTA/TCAGGA 3 -- ut312Minor allele frequency- T:0.10CSA WA 120
    rs790865361,2
    F--17983230(+) TGGCCT/ACAGGT 3 -- ut311Minor allele frequency- A:0.03WA 118
    rs746023961,2
    --17983489(+) GCCAGA/TCAAGA 3 -- ut312Minor allele frequency- T:0.10CSA WA 120
    rs563258671,2
    C--17983877(+) TTCAGG/AAGCAT 3 -- ut311Minor allele frequency- A:0.50WA 2
    rs1181760691,2
    C,F--17984417(+) TAACAA/GANNNN 3 -- int11Minor allele frequency- G:0.03NA 120
    rs792363941,2
    C--17984991(+) GAAAA-/GGTTCT 3 -- int10--------
    rs753373711,2
    C--17984992(+) NNNNAA/GTTCTA 3 -- int10--------
    rs786518971,2
    --17985049(+) AATATT/CTTTAA 3 -- int12Minor allele frequency- C:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for HPS5 (18300217 - 18343745 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HPS5: --
    Human Gene Mutation Database (HGMD): HPS5

    Locus Specific Mutation Databases (LSDB): HPS5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPS5
    DNA2.0 Custom Variant and Variant Library Synthesis for HPS5

    (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

    HPS5 for disorders           About GeneDecksing

    OMIM gene information: 607521   
    OMIM disorders: 203300  
    UniProtKB/Swiss-Prot: HPS5_HUMAN, Q9UPZ3
  • Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:614074]. 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

    9 diseases for HPS5:    About MalaCards
    hermansky-pudlak syndrome    hermansky-pudlak syndrome 5    hermansky-pudlak syndrome 6    hermansky-pudlak syndrome 3
    platelet storage pool deficiency    oculocutaneous albinism    albinism    pulmonary fibrosis
    fibrosis

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

    1 Novoseek 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
    Hermansky-Pudlak Syndrome

    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)
    About This Section

    PubMed articles for HPS5 gene, integrated from 9 sources (see all 25):
    (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. (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. (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. (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. (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. (2004)
    6. 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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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. (2003)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 11234 HGNC: 17022 AceView: HPS5 Ensembl:ENSG00000110756 euGenes: HUgn11234
    ECgene: HPS5 H-InvDB: HPS5

    (According to HUGE)
    About This Section
    HUGE: KIAA1017

    (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 HPS5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPS5

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