Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HPS3 Gene

Aliases for HPS3 Gene

  • HPS3, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1 2 3
  • Hermansky-Pudlak Syndrome 3 2 5
  • BLOC2S1 3
  • SUTAL 3

External Ids for HPS3 Gene

Previous GeneCards Identifiers for HPS3 Gene

  • GC03P145796
  • GC03P149732
  • GC03P150128
  • GC03P150168
  • GC03P150330
  • GC03P148847
  • GC03P146218

Summaries for HPS3 Gene

Entrez Gene Summary for HPS3 Gene

  • This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

GeneCards Summary for HPS3 Gene

HPS3 (HPS3, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1) is a Protein Coding gene. Diseases associated with HPS3 include hermansky-pudlak syndrome 3 and hermansky-pudlak syndrome without pulmonary fibrosis.

UniProtKB/Swiss-Prot for HPS3 Gene

  • Involved in early stages of melanosome biogenesis and maturation.

Gene Wiki entry for HPS3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS3 Gene

Genomics for HPS3 Gene

Regulatory Elements for HPS3 Gene

Promoters for HPS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HPS3 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPS3 Gene

Chromosome:
3
Start:
149,129,584 bp from pter
End:
149,173,732 bp from pter
Size:
44,149 bases
Orientation:
Plus strand

Genomic View for HPS3 Gene

Genes around HPS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPS3 Gene

Proteins for HPS3 Gene

  • Protein details for HPS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969F9-HPS3_HUMAN
    Recommended name:
    Hermansky-Pudlak syndrome 3 protein
    Protein Accession:
    Q969F9
    Secondary Accessions:
    • A8K6G6
    • Q8WTV6
    • Q96AP1
    • Q96MR3
    • Q9H608

    Protein attributes for HPS3 Gene

    Size:
    1004 amino acids
    Molecular mass:
    113736 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16901.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH22062.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB71221.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HPS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPS3 Gene

Proteomics data for HPS3 Gene at MOPED

Post-translational modifications for HPS3 Gene

  • Ubiquitination at Lys 938
  • Modification sites at PhosphoSitePlus

Other Protein References for HPS3 Gene

No data available for DME Specific Peptides for HPS3 Gene

Domains & Families for HPS3 Gene

Gene Families for HPS3 Gene

Protein Domains for HPS3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HPS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HPS3: view

No data available for UniProtKB/Swiss-Prot for HPS3 Gene

Function for HPS3 Gene

Molecular function for HPS3 Gene

UniProtKB/Swiss-Prot Function:
Involved in early stages of melanosome biogenesis and maturation.
genes like me logo Genes that share phenotypes with HPS3: view

Human Phenotype Ontology for HPS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS3 Gene

Localization for HPS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPS3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPS3 Gene COMPARTMENTS Subcellular localization image for HPS3 gene
Compartment Confidence
cytosol 5
plasma membrane 3
golgi apparatus 2
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for HPS3 Gene

Pathways & Interactions for HPS3 Gene

SuperPathways for HPS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization IEA --
genes like me logo Genes that share ontologies with HPS3: view

No data available for Pathways by source and SIGNOR curated interactions for HPS3 Gene

Drugs & Compounds for HPS3 Gene

No Compound Related Data Available

Transcripts for HPS3 Gene

Unigene Clusters for HPS3 Gene

Hermansky-Pudlak syndrome 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPS3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18
SP1: - - -
SP2: -
SP3:
SP4:
SP5: - -
SP6: - - -

Relevant External Links for HPS3 Gene

GeneLoc Exon Structure for
HPS3
ECgene alternative splicing isoforms for
HPS3

Expression for HPS3 Gene

mRNA expression in normal human tissues for HPS3 Gene

Protein differential expression in normal tissues from HIPED for HPS3 Gene

This gene is overexpressed in Platelet (17.1), Heart (16.7), and Blymphocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPS3 Gene



SOURCE GeneReport for Unigene cluster for HPS3 Gene Hs.591311

mRNA Expression by UniProt/SwissProt for HPS3 Gene

Q969F9-HPS3_HUMAN
Tissue specificity: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
genes like me logo Genes that share expression patterns with HPS3: view

Protein tissue co-expression partners for HPS3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HPS3 Gene

Orthologs for HPS3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HPS3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HPS3 35
  • 89.4 (n)
  • 89.53 (a)
HPS3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HPS3 35
  • 90.66 (n)
  • 90.23 (a)
HPS3 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hps3 35
  • 83.8 (n)
  • 81.14 (a)
Hps3 16
Hps3 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HPS3 35
  • 99.63 (n)
  • 99.4 (a)
HPS3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hps3 35
  • 83.5 (n)
  • 81.14 (a)
oppossum
(Monodelphis domestica)
Mammalia HPS3 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves HPS3 35
  • 67.9 (n)
  • 59.72 (a)
HPS3 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPS3 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hps3 35
  • 62.58 (n)
  • 55.36 (a)
zebrafish
(Danio rerio)
Actinopterygii hps3 35
  • 56.1 (n)
  • 48.94 (a)
hps3 36
  • 45 (a)
OneToOne
Species with no ortholog for HPS3:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 HPS3 Gene

ENSEMBL:
Gene Tree for HPS3 (if available)
TreeFam:
Gene Tree for HPS3 (if available)

Paralogs for HPS3 Gene

(1) SIMAP similar genes for HPS3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HPS3: view

No data available for Paralogs for HPS3 Gene

Variants for HPS3 Gene

Sequence variations from dbSNP and Humsavar for HPS3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_013251 Hermansky-Pudlak syndrome 3 (HPS3)
VAR_035928 A colorectal cancer sample
rs34388030 - 149,141,127(-) AGACT(C/T)CAGTG nc-transcript-variant, reference, missense
rs772820 -- 149,128,222(+) CCCCA(A/C)CTTCC upstream-variant-2KB
rs772903 -- 149,158,474(-) TCTAA(A/C)ACATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HPS3 Gene

Variant ID Type Subtype PubMed ID
esv2672056 CNV Deletion 23128226

Variation tolerance for HPS3 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPS3 Gene

HapMap Linkage Disequilibrium report
HPS3
Human Gene Mutation Database (HGMD)
HPS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS3 Gene

Disorders for HPS3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HPS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 3
  • platelet storage pool deficiency
hermansky-pudlak syndrome without pulmonary fibrosis
  • hps without pulmonary fibrosis
hermansky-pudlak syndrome
  • hps
platelet storage pool deficiency
  • dense body defect
oculocutaneous albinism
  • albinism, oculocutaneous
- elite association - COSMIC cancer census association via MalaCards
Search HPS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPS3_HUMAN
  • Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]: 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:11455388, ECO:0000269 PubMed:11590544}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPS3

Genetic Association Database (GAD)
HPS3
Human Genome Epidemiology (HuGE) Navigator
HPS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPS3
genes like me logo Genes that share disorders with HPS3: view

No data available for Genatlas for HPS3 Gene

Publications for HPS3 Gene

  1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. (PMID: 11455388) Anikster Y. … Toro J.R. (Nat. Genet. 2001) 2 3 4 23 67
  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
  3. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (PMID: 15632015) Boissy R.E. … Gahl W.A. (Am. J. Pathol. 2005) 3 23
  4. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. (PMID: 16159387) Helip-Wooley A. … Huizing M. (BMC Cell Biol. 2005) 3 23
  5. 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

Products for HPS3 Gene

Sources for HPS3 Gene

Back to Top

Content