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Aliases for HPS5 Gene

Aliases for HPS5 Gene

  • HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2 2 3 5
  • Ruby-Eye Protein 2 Homolog 2 3 4
  • Alpha-Integrin-Binding Protein 63 2 4
  • AIBP63 3 4
  • Hermansky-Pudlak Syndrome 5 Protein 3
  • Alpha Integrin Binding Protein 63 3
  • Hermansky-Pudlak Syndrome 5 2
  • 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 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis. 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

Additional gene information for HPS5 Gene

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

Genomics for HPS5 Gene

GeneHancer (GH) Regulatory Elements for HPS5 Gene

Promoters and enhancers for HPS5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J018320 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 660.5 -0.3 -253 5.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 GTF2H1 HPS5 SAA2 SAAL1 SPTY2D1 ENSG00000256361 TSG101 LOC100129966 ENSG00000256588 LOC105376577
GH11J018525 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 -204.4 -204443 2.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TSG101 GC11P018527 GTF2H1 SAAL1 LDHC LDHA HPS5 SPTY2D1OS LOC100129966 ENSG00000256361
GH11J018279 Enhancer 0.8 Ensembl ENCODE 21.9 +41.3 41250 2.9 PKNOX1 JUNB ELF1 DPF2 BATF IRF4 ZNF217 IKZF1 ATF7 RUNX3 GTF2H1 HPS5 LOC494141 LOC645319 LDHA SPTY2D1OS LOC100129966 RNA5SP334
GH11J018697 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 8.8 -376.8 -376775 3.9 ATF1 SIN3A BRCA1 GLIS2 ZNF213 ATF7 SP3 RXRA SP5 NFYC TMEM86A PIR46171 GTF2H1 SPTY2D1 SAAL1 HPS5 IGSF22 LOC105376579 YWHABP2 UEVLD
GH11J018371 Enhancer 0.8 ENCODE dbSUPER 20.2 -49.4 -49438 1.8 MAFG DPF2 FOSL1 ZNF316 FOXK2 SMARCA4 NFE2 EMSY MAFK GC11P018373 GTF2H1 HPS5 LDHA LDHC GC11M018372 LOC105376577
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HPS5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HPS5 gene promoter:
  • Meis-1b
  • Meis-1a
  • Meis-1
  • Lmo2
  • GATA-1
  • ITF-2
  • Tal-1beta
  • Cdc5
  • MZF-1
  • MyoD

Genomic Locations for HPS5 Gene

Genomic Locations for HPS5 Gene
chr11:18,278,668-18,322,498
(GRCh38/hg38)
Size:
43,831 bases
Orientation:
Minus strand
chr11:18,300,217-18,343,745
(GRCh37/hg19)
Size:
43,529 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. Interacts with HPS6 (PubMed:15030569, PubMed:25189619). Interacts with HPS3 (PubMed:15030569). 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 (PubMed:10094488).
    SequenceCaution:
    • Sequence=BAA76861.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HPS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPS5 Gene

Post-translational modifications for HPS5 Gene

  • Ubiquitination at isoforms=2262
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HPS5 Gene

Domains & Families for HPS5 Gene

Gene Families for HPS5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for HPS5 Gene

Gene Ontology (GO) - Molecular Function for HPS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25189619
genes like me logo Genes that share ontologies with HPS5: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPS5 gene
Compartment Confidence
cytosol 5
nucleus 2
lysosome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HPS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0031084 BLOC-2 complex IPI 15030569
genes like me logo Genes that share ontologies with HPS5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HPS5 Gene

Pathways & Interactions 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 --
GO:0043473 pigmentation 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HPS5 Gene



NURSA nuclear receptor signaling pathways regulating expression of HPS5 Gene:

HPS5

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.

Evidence on tissue expression from TISSUES for HPS5 Gene

  • Liver(4.3)
  • Nervous system(4.3)
  • Eye(4)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HPS5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • nose
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with HPS5: view

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 34 33
  • 99.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HPS5 34 33
  • 89.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HPS5 34 33
  • 88.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hps5 16 34 33
  • 83.98 (n)
rat
(Rattus norvegicus)
Mammalia Hps5 33
  • 83.54 (n)
oppossum
(Monodelphis domestica)
Mammalia HPS5 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HPS5 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HPS5 34 33
  • 69.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPS5 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hps5 33
  • 65.54 (n)
zebrafish
(Danio rerio)
Actinopterygii hps5 34 33
  • 56.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta p 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W09G3.6 34
  • 15 (a)
OneToOne
Species where no ortholog for HPS5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HPS5: view image

Paralogs for HPS5 Gene

Paralogs for HPS5 Gene

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

  • HPS5_HUMAN
  • F5GWM5_HUMAN
  • F5H6Q8_HUMAN
  • G3V159_HUMAN
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 Variation AA Info Type
rs1046611 benign, Hermansky-Pudlak syndrome 18,279,418(-) G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1046615 benign, Hermansky-Pudlak syndrome 18,279,407(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1046628 likely-benign, Hermansky-Pudlak syndrome 18,279,078(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs112456564 likely-benign, Hermansky-Pudlak syndrome 18,278,814(-) A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs113304476 pathogenic, Hermansky-Pudlak syndrome 5 18,283,792(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HPS5 Gene

Variant ID Type Subtype PubMed ID
nsv478745 CNV novel sequence insertion 20440878
nsv553633 CNV gain 21841781

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)

Additional Variant Information for HPS5 Gene

Human Gene Mutation Database (HGMD)
HPS5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPS5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS5 Gene

Disorders for HPS5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HPS5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 5
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hermansky-pudlak syndrome without pulmonary fibrosis
  • hps without pulmonary fibrosis
hermansky-pudlak syndrome
  • hps
hermansky-pudlak syndrome 6
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hermansky-pudlak syndrome 3
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- 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.

Additional Disease Information for HPS5

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

No data available for Genatlas for HPS5 Gene

Publications for HPS5 Gene

  1. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. (PMID: 17301833) Helip-Wooley A … Gahl WA (The Journal of investigative dermatology 2007) 3 4 22 58
  2. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. (PMID: 15030569) Di Pietro SM … Dell'Angelica EC (Traffic (Copenhagen, Denmark) 2004) 3 4 22 58
  3. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (PMID: 15296495) Huizing M … Gahl WA (Traffic (Copenhagen, Denmark) 2004) 3 4 22 58
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  5. Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains. (PMID: 10094488) Wixler V … Aumailley M (FEBS letters 1999) 2 3 4 58

Products for HPS5 Gene

Sources for HPS5 Gene

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