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Aliases for HPS1 Gene

Aliases for HPS1 Gene

  • HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1 2 3
  • Hermansky-Pudlak Syndrome 1 2 5
  • HPS 3 4
  • Hermansky-Pudlak Syndrome 2
  • BLOC3S1 3

External Ids for HPS1 Gene

Previous HGNC Symbols for HPS1 Gene

  • HPS

Previous GeneCards Identifiers for HPS1 Gene

  • GC10M099069
  • GC10M099409
  • GC10M100307
  • GC10M099840
  • GC10M100165
  • GC10M093800

Summaries for HPS1 Gene

Entrez Gene Summary for HPS1 Gene

  • This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

GeneCards Summary for HPS1 Gene

HPS1 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1) is a Protein Coding gene. Diseases associated with HPS1 include hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome with pulmonary fibrosis. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot for HPS1 Gene

  • Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.

Gene Wiki entry for HPS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS1 Gene

Genomics for HPS1 Gene

Regulatory Elements for HPS1 Gene

Promoters for HPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HPS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPS1 Gene

Chromosome:
10
Start:
98,416,198 bp from pter
End:
98,446,963 bp from pter
Size:
30,766 bases
Orientation:
Minus strand

Genomic View for HPS1 Gene

Genes around HPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPS1 Gene

Proteins for HPS1 Gene

  • Protein details for HPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92902-HPS1_HUMAN
    Recommended name:
    Hermansky-Pudlak syndrome 1 protein
    Protein Accession:
    Q92902
    Secondary Accessions:
    • A8MRT2
    • O15402
    • O15502
    • Q5TAA3
    • Q8WXE5

    Protein attributes for HPS1 Gene

    Size:
    700 amino acids
    Molecular mass:
    79292 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPS1 Gene

Proteomics data for HPS1 Gene at MOPED

Post-translational modifications for HPS1 Gene

  • Ubiquitination at Lys 518
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HPS1 Gene

Domains & Families for HPS1 Gene

Gene Families for HPS1 Gene

Protein Domains for HPS1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HPS1: view

No data available for UniProtKB/Swiss-Prot for HPS1 Gene

Function for HPS1 Gene

Molecular function for HPS1 Gene

UniProtKB/Swiss-Prot Function:
Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.
genes like me logo Genes that share phenotypes with HPS1: view

Human Phenotype Ontology for HPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for HPS1 Gene

miRTarBase miRNAs that target HPS1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS1 Gene

Localization for HPS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPS1 Gene COMPARTMENTS Subcellular localization image for HPS1 gene
Compartment Confidence
cytosol 5
lysosome 5
vacuole 5
plasma membrane 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10625677
GO:0005887 integral component of plasma membrane TAS 8896559
GO:0031085 BLOC-3 complex IPI 12756248
genes like me logo Genes that share ontologies with HPS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPS1 Gene

Pathways & Interactions for HPS1 Gene

SuperPathways for HPS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HPS1 Gene

Drugs & Compounds for HPS1 Gene

(1) Drugs for HPS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HPS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HPS1: view

Transcripts for HPS1 Gene

Unigene Clusters for HPS1 Gene

Hermansky-Pudlak syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^
SP1: - - - - - - - -
SP2: - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - -
SP9: - - -
SP10: -
SP11: - - -
SP12: - -
SP13:
SP14: -
SP15:
SP16:
SP17:

ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
SP1: - -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for HPS1 Gene

GeneLoc Exon Structure for
HPS1
ECgene alternative splicing isoforms for
HPS1

Expression for HPS1 Gene

mRNA expression in normal human tissues for HPS1 Gene

mRNA differential expression in normal tissues according to GTEx for HPS1 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for HPS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (42.0), Urine (10.8), and Platelet (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPS1 Gene



SOURCE GeneReport for Unigene cluster for HPS1 Gene Hs.404568

mRNA Expression by UniProt/SwissProt for HPS1 Gene

Q92902-HPS1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with HPS1: view

Protein tissue co-expression partners for HPS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HPS1 Gene

Orthologs for HPS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HPS1 35
  • 99.62 (n)
  • 99.57 (a)
HPS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HPS1 36
  • 83 (a)
OneToOne
HPS1 35
  • 86.17 (n)
  • 83.83 (a)
dog
(Canis familiaris)
Mammalia HPS1 35
  • 86.48 (n)
  • 84.86 (a)
HPS1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hps1 16
Hps1 35
  • 83.57 (n)
  • 81.38 (a)
Hps1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HPS1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HPS1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hps1 35
  • 83.91 (n)
  • 82.81 (a)
chicken
(Gallus gallus)
Aves HPS1 36
  • 62 (a)
OneToOne
HPS1 35
  • 70.74 (n)
  • 64.24 (a)
lizard
(Anolis carolinensis)
Reptilia HPS1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32472 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hps1 35
  • 63.8 (n)
  • 62.14 (a)
zebrafish
(Danio rerio)
Actinopterygii hps1 36
  • 54 (a)
OneToOne
hps1 35
  • 62.56 (n)
  • 56.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta HPS1 36
  • 26 (a)
OneToOne
Species with no ortholog for HPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HPS1 Gene

ENSEMBL:
Gene Tree for HPS1 (if available)
TreeFam:
Gene Tree for HPS1 (if available)

Paralogs for HPS1 Gene

(1) SIMAP similar genes for HPS1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for HPS1 Gene

genes like me logo Genes that share paralogs with HPS1: view

No data available for Paralogs for HPS1 Gene

Variants for HPS1 Gene

Sequence variations from dbSNP and Humsavar for HPS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs11592273 - 98,429,811(+) CCCCC(A/C/G/T)AGTTG intron-variant, reference, missense
rs2296434 - 98,423,813(-) AGCCC(A/C/G)CAGCA reference, missense
rs2296436 - 98,420,094(-) GTTCC(A/G)GGAGG reference, missense
VAR_005293 -
rs1801285 - 98,435,370(-) ACCGA(A/C/G)AGCGA intron-variant, reference, synonymous-codon, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HPS1 Gene

Variant ID Type Subtype PubMed ID
nsv515723 CNV Loss 19592680
nsv895915 CNV Loss 21882294
nsv831955 CNV Gain 17160897
nsv524427 CNV Loss 19592680

Variation tolerance for HPS1 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.74; 86.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPS1 Gene

HapMap Linkage Disequilibrium report
HPS1
Human Gene Mutation Database (HGMD)
HPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS1 Gene

Disorders for HPS1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for HPS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 1
  • hps 1
hermansky-pudlak syndrome with pulmonary fibrosis
  • hps with pulmonary fibrosis
bleeding disorder, platelet-type, 15
  • bleeding disorder, platelet-type 15
hermansky-pudlak syndrome
  • hps
hermansky-pudlak syndrome 9
  • platelet storage pool deficiency
- elite association - COSMIC cancer census association via MalaCards
Search HPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPS1_HUMAN
  • Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: 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:9497254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPS1

Genetic Association Database (GAD)
HPS1
Human Genome Epidemiology (HuGE) Navigator
HPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPS1
genes like me logo Genes that share disorders with HPS1: view

No data available for Genatlas for HPS1 Gene

Publications for HPS1 Gene

  1. Characterization of a partial pseudogene homologous to the Hermansky- Pudlak syndrome gene HPS-1; relevance for mutation detection. (PMID: 10798370) Huizing M. … Gahl W.A. (Hum. Genet. 2000) 3 4 23 67
  2. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PMID: 19865097) Wei A. … Li W. (J. Invest. Dermatol. 2010) 3 23
  3. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). (PMID: 20514622) Sandrock K. … Zieger B. (Klin Padiatr 2010) 3 23
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 23
  5. The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. (PMID: 19665357) Wei A. … Li W. (J. Dermatol. Sci. 2009) 3 23

Products for HPS1 Gene

Sources for HPS1 Gene

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