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Aliases for HPS1 Gene

Aliases for HPS1 Gene

  • Hermansky-Pudlak Syndrome 1 2 3
  • HPS 3 4
  • Hermansky-Pudlak Syndrome 1 Protein 3
  • Hermansky-Pudlak Syndrome 2

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]

GeneCards Summary for HPS1 Gene

HPS1 (Hermansky-Pudlak Syndrome 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HPS1 Gene

98,416,198 bp from pter
98,446,963 bp from pter
30,766 bases
Minus strand

Genomic View for HPS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    Hermansky-Pudlak syndrome 1 protein
    Protein Accession:
    Secondary Accessions:
    • A8MRT2
    • O15402
    • O15502
    • Q5TAA3
    • Q8WXE5

    Protein attributes for HPS1 Gene

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

    Alternative splice isoforms for HPS1 Gene


neXtProt entry for HPS1 Gene

Proteomics data for HPS1 Gene at MOPED

Post-translational modifications for HPS1 Gene

  • Ubiquitination at Lys518
  • Modification sites at PhosphoSitePlus

Other Protein References for HPS1 Gene

No data available for DME Specific Peptides for HPS1 Gene

Domains for HPS1 Gene

Protein Domains for HPS1 Gene


Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and 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

Gene Ontology (GO) - Molecular Function for HPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12756248
GO:0046983 protein dimerization activity IPI 12663659
genes like me logo Genes that share ontologies with HPS1: view
genes like me logo Genes that share phenotypes with HPS1: view

Animal Model Products

CRISPR Products

miRNA for HPS1 Gene

miRTarBase miRNAs that target HPS1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for HPS1 Gene

Localization for HPS1 Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for HPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10625677
GO:0005764 lysosome TAS 10625677
GO:0005887 integral component of plasma membrane TAS 8896559
GO:0016023 cytoplasmic membrane-bounded vesicle IDA 11836498
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 for HPS1 Gene

SuperPathways for HPS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization --
GO:0007040 lysosome organization TAS 10625677
GO:0007596 blood coagulation IEA --
GO:0007601 visual perception IEA --
GO:0030318 melanocyte differentiation IEA --
genes like me logo Genes that share ontologies with HPS1: view

No data available for Pathways by source for HPS1 Gene

Compounds for HPS1 Gene

(2) Novoseek inferred chemical compound relationships for HPS1 Gene

Compound -log(P) Hits PubMed IDs
protamine 37.7 1
levodopa 17.5 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HPS1

Primer Products

Flow Cytometry Products

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: - -
SP14: -

ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
SP1: - -
SP2: -
SP4: -

Relevant External Links for HPS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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 (4.6).

Integrated Proteomics: protein expression 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

Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with HPS1: view

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
(Pan troglodytes)
Mammalia HPS1 35
  • 99.62 (n)
  • 99.57 (a)
HPS1 36
  • 100 (a)
(Bos Taurus)
Mammalia HPS1 35
  • 86.17 (n)
  • 83.83 (a)
HPS1 36
  • 83 (a)
(Canis familiaris)
Mammalia HPS1 35
  • 86.48 (n)
  • 84.86 (a)
HPS1 36
  • 84 (a)
(Mus musculus)
Mammalia Hps1 35
  • 83.57 (n)
  • 81.38 (a)
Hps1 16
Hps1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia HPS1 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia HPS1 36
  • 72 (a)
(Rattus norvegicus)
Mammalia Hps1 35
  • 83.91 (n)
  • 82.81 (a)
(Gallus gallus)
Aves HPS1 35
  • 70.74 (n)
  • 64.24 (a)
HPS1 36
  • 62 (a)
(Anolis carolinensis)
Reptilia HPS1 36
  • 60 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32472 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hps1 35
  • 63.8 (n)
  • 62.14 (a)
(Danio rerio)
Actinopterygii hps1 35
  • 62.56 (n)
  • 56.53 (a)
hps1 36
  • 54 (a)
fruit fly
(Drosophila melanogaster)
Insecta HPS1 36
  • 26 (a)
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

Gene Tree for HPS1 (if available)
Gene Tree for HPS1 (if available)

Paralogs for HPS1 Gene

Selected SIMAP similar genes for HPS1 Gene using alignment to 5 proteins: 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 MAF
rs942801 -- 98,434,982(-) GTGCT(A/C)TTTCC intron-variant
rs942802 -- 98,422,646(-) GCTTA(A/G)CTGAA intron-variant
rs1061134 -- 98,429,495(-) AGGCT(C/T)CAGTG intron-variant, utr-variant-3-prime
rs1061135 -- 98,429,381(-) AAGGA(C/T)TGTTA intron-variant, utr-variant-3-prime
rs1134226 -- 98,442,049(-) gacta(A/T)tacaa intron-variant

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

Relevant External Links for HPS1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for HPS1 Gene

(1) OMIM Diseases for HPS1 Gene (604982)


  • 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.

(6) Novoseek inferred disease relationships for HPS1 Gene

Disease -log(P) Hits PubMed IDs
hermansky-pudlak syndrome 98.4 19
albinism 81.7 2
pulmonary fibrosis 78.4 6
nevi melanocytic 45 2
bleeding 41 1

Relevant External Links for HPS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HPS1: view

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
  2. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (PMID: 16417222) Santiago Borrero P.J. … Cadilla C.L. (J. Invest. Dermatol. 2006) 3 23 48
  3. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PMID: 18463683) Hutton S.M. … Spritz R.A. (J. Invest. Dermatol. 2008) 3 23 48
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 23 48
  5. 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 48

Products for HPS1 Gene

Sources for HPS1 Gene

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