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Aliases for HPS5 Gene

Aliases for HPS5 Gene

  • HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2 2 3
  • Alpha-Integrin-Binding Protein 63 3 4
  • Hermansky-Pudlak Syndrome 5 2 5
  • Ruby-Eye Protein 2 Homolog 3 4
  • AIBP63 3 4
  • Alpha Integrin Binding Protein 63 3
  • KIAA1017 4
  • BLOC2S2 3
  • RU2 4

External Ids for HPS5 Gene

Previous GeneCards Identifiers for HPS5 Gene

  • GC00U991233
  • GC11M018339
  • GC11M018264
  • GC11M018256
  • GC11M017982

Summaries for HPS5 Gene

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 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) is a Protein Coding gene. Diseases associated with HPS5 include hermansky-pudlak syndrome 5 and nephronophthisis 19. An important paralog of this gene is TECPR2.

UniProtKB/Swiss-Prot for HPS5 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS5 Gene

Genomics for HPS5 Gene

Regulatory Elements for HPS5 Gene

Promoters for HPS5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HPS5 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPS5 Gene

Chromosome:
11
Start:
18,278,668 bp from pter
End:
18,322,498 bp from pter
Size:
43,831 bases
Orientation:
Minus strand

Genomic View for HPS5 Gene

Genes around HPS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPS5 Gene

Proteins for HPS5 Gene

  • Protein details for HPS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPZ3-HPS5_HUMAN
    Recommended name:
    Hermansky-Pudlak syndrome 5 protein
    Protein Accession:
    Q9UPZ3
    Secondary Accessions:
    • A8K6J8
    • A8K8S1
    • D3DQX9
    • D3DQY0
    • O95942
    • Q8N4U0

    Protein attributes for HPS5 Gene

    Size:
    1129 amino acids
    Molecular mass:
    127449 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA76861.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HPS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPS5 Gene

Proteomics data for HPS5 Gene at MOPED

Post-translational modifications for HPS5 Gene

  • Ubiquitination at Lys 262
  • Modification sites at PhosphoSitePlus

Other Protein References for HPS5 Gene

No data available for DME Specific Peptides for HPS5 Gene

Domains & Families for HPS5 Gene

Gene Families for HPS5 Gene

Protein Domains for HPS5 Gene

Suggested Antigen Peptide Sequences for HPS5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPZ3

UniProtKB/Swiss-Prot:

HPS5_HUMAN :
  • Belongs to the HPS5 family.
Family:
  • Belongs to the HPS5 family.
genes like me logo Genes that share domains with HPS5: view

Function for HPS5 Gene

Molecular function for HPS5 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with HPS5: view

Human Phenotype Ontology for HPS5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for HPS5 Gene

miRTarBase miRNAs that target HPS5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS5 Gene

Localization for HPS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPS5 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPS5 Gene COMPARTMENTS Subcellular localization image for HPS5 gene
Compartment Confidence
cytosol 5
lysosome 2
nucleus 2
vacuole 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for HPS5 Gene

Pathways & Interactions for HPS5 Gene

SuperPathways for HPS5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization IEA --
GO:0007596 blood coagulation IEA --
genes like me logo Genes that share ontologies with HPS5: view

No data available for Pathways by source and SIGNOR curated interactions for HPS5 Gene

Drugs & Compounds for HPS5 Gene

No Compound Related Data Available

Transcripts for HPS5 Gene

Unigene Clusters for HPS5 Gene

Hermansky-Pudlak syndrome 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPS5 Gene

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: - - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - -
SP10: - - - - - - - -
SP11:
SP12:
SP13: - - - - -
SP14: -
SP15: - - - -
SP16: - - - - - - -
SP17:
SP18:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for HPS5 Gene

GeneLoc Exon Structure for
HPS5
ECgene alternative splicing isoforms for
HPS5

Expression for HPS5 Gene

mRNA expression in normal human tissues for HPS5 Gene

mRNA differential expression in normal tissues according to GTEx for HPS5 Gene

This gene is overexpressed in Liver (x5.4).

Protein differential expression in normal tissues from HIPED for HPS5 Gene

This gene is overexpressed in Tlymphocyte (20.9), Blymphocyte (13.2), Lymph node (7.8), and Testis (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPS5 Gene



SOURCE GeneReport for Unigene cluster for HPS5 Gene Hs.437599

mRNA Expression by UniProt/SwissProt for HPS5 Gene

Q9UPZ3-HPS5_HUMAN
Tissue specificity: Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.
genes like me logo Genes that share expression patterns with HPS5: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for HPS5 Gene

Orthologs for HPS5 Gene

This gene was present in the common ancestor of animals.

Orthologs for HPS5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HPS5 35
  • 99.41 (n)
  • 99.65 (a)
HPS5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HPS5 36
  • 88 (a)
OneToOne
HPS5 35
  • 89.25 (n)
  • 87.95 (a)
dog
(Canis familiaris)
Mammalia HPS5 35
  • 88.72 (n)
  • 87.33 (a)
HPS5 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hps5 16
Hps5 35
  • 83.98 (n)
  • 81.44 (a)
Hps5 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HPS5 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HPS5 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hps5 35
  • 83.54 (n)
  • 80.37 (a)
chicken
(Gallus gallus)
Aves HPS5 35
  • 69.12 (n)
  • 68.19 (a)
HPS5 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPS5 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hps5 35
  • 65.54 (n)
  • 61.96 (a)
zebrafish
(Danio rerio)
Actinopterygii hps5 36
  • 48 (a)
OneToOne
hps5 35
  • 56.79 (n)
  • 52.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta p 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W09G3.6 36
  • 15 (a)
OneToOne
Species with no ortholog for HPS5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HPS5 Gene

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

Paralogs for HPS5 Gene

Paralogs for HPS5 Gene

(1) SIMAP similar genes for HPS5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HPS5: view

Variants for HPS5 Gene

Sequence variations from dbSNP and Humsavar for HPS5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7128017 - 18,297,633(+) TTCCA(A/G/T)TTGAG reference, missense
VAR_062285 Hermansky-Pudlak syndrome 5 (HPS5)
rs61884288 Hermansky-Pudlak syndrome 5 (HPS5) 18,281,986(+) CGCAG(A/G)TTCTG reference, missense
rs1046611 -- 18,279,418(-) AATTA(A/C)TGAAA utr-variant-3-prime
rs1869786 -- 18,305,165(-) TAGCT(C/T)TACTA intron-variant

Variation tolerance for HPS5 Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.02; 84.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPS5 Gene

HapMap Linkage Disequilibrium report
HPS5
Human Gene Mutation Database (HGMD)
HPS5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HPS5 Gene

Disorders for HPS5 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HPS5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 5
  • platelet storage pool deficiency
nephronophthisis 19
  • nphp19
deafness, autosomal recessive 66
  • deafness, autosomal recessive, 66
hermansky-pudlak syndrome without pulmonary fibrosis
  • hps without pulmonary fibrosis
hermansky-pudlak syndrome
  • hps
- elite association - COSMIC cancer census association via MalaCards
Search HPS5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPS5_HUMAN
  • 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. {ECO:0000269 PubMed:15296495}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPS5

Genetic Association Database (GAD)
HPS5
Human Genome Epidemiology (HuGE) Navigator
HPS5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPS5
genes like me logo Genes that share disorders with HPS5: view

No data available for Genatlas for HPS5 Gene

Publications for HPS5 Gene

  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. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. Improper trafficking of melanocyte-specific proteins in Hermansky- Pudlak syndrome type-5. (PMID: 17301833) Helip-Wooley A. … Gahl W.A. (J. Invest. Dermatol. 2007) 3 23
  3. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. (PMID: 15030569) Di Pietro S.M. … Dell'Angelica E.C. (Traffic 2004) 3 23
  4. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (PMID: 15296495) Huizing M. … Gahl W.A. (Traffic 2004) 3 23
  5. Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains. (PMID: 10094488) Wixler V. … Aumailley M. (FEBS Lett. 1999) 2 3

Products for HPS5 Gene

Sources for HPS5 Gene

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