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Aliases for HPS4 Gene

Aliases for HPS4 Gene

  • Hermansky-Pudlak Syndrome 4 2 3
  • Light-Ear Protein Homolog 3 4
  • Hermansky-Pudlak Syndrome 4 Protein 3
  • KIAA1667 4
  • LE 3

External Ids for HPS4 Gene

Previous GeneCards Identifiers for HPS4 Gene

  • GC22M023544
  • GC22M025172
  • GC22M025177
  • GC22M026840
  • GC22M009795

Summaries for HPS4 Gene

Entrez Gene Summary for HPS4 Gene

  • This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

GeneCards Summary for HPS4 Gene

HPS4 (Hermansky-Pudlak Syndrome 4) is a Protein Coding gene. Diseases associated with HPS4 include hermansky-pudlak syndrome 4 and hermansky-pudlak syndrome with pulmonary fibrosis. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity.

UniProtKB/Swiss-Prot for HPS4 Gene

  • May function in the pathway of organelle biogenesis

Gene Wiki entry for HPS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS4 Gene

Genomics for HPS4 Gene

Regulatory Elements for HPS4 Gene

Epigenetics Products

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

Genomic Location for HPS4 Gene

26,443,423 bp from pter
26,483,863 bp from pter
40,441 bases
Minus strand

Genomic View for HPS4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HPS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPS4 Gene

Proteins for HPS4 Gene

  • Protein details for HPS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hermansky-Pudlak syndrome 4 protein
    Protein Accession:
    Secondary Accessions:
    • B1AHQ4
    • Q5H8V6
    • Q96LX6
    • Q9BY93
    • Q9UH37
    • Q9UH38

    Protein attributes for HPS4 Gene

    708 amino acids
    Molecular mass:
    76919 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB33337.1; Type=Frameshift; Positions=237; Evidence={ECO:0000305}; Sequence=BAB33337.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BC035614; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for HPS4 Gene


neXtProt entry for HPS4 Gene

Proteomics data for HPS4 Gene at MOPED

Post-translational modifications for HPS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HPS4 Gene

Domains for HPS4 Gene

Protein Domains for HPS4 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HPS4: view

No data available for UniProtKB/Swiss-Prot for HPS4 Gene

Function for HPS4 Gene

Molecular function for HPS4 Gene

UniProtKB/Swiss-Prot Function:
May function in the pathway of organelle biogenesis

Gene Ontology (GO) - Molecular Function for HPS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12756248
GO:0042803 protein homodimerization activity IPI 12663659
GO:0046983 protein dimerization activity IPI 12663659
genes like me logo Genes that share ontologies with HPS4: view
genes like me logo Genes that share phenotypes with HPS4: view

Animal Model Products

miRNA for HPS4 Gene

miRTarBase miRNAs that target HPS4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS4 Gene

Localization for HPS4 Gene

Subcellular locations from

Jensen Localization Image for HPS4 Gene COMPARTMENTS Subcellular localization image for HPS4 gene
Compartment Confidence
lysosome 5
vacuole 5
nucleus 3
cytosol 2
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HPS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12756248
GO:0005764 lysosome IDA 12663659
GO:0016020 membrane IDA 12756248
GO:0016023 cytoplasmic membrane-bounded vesicle --
GO:0031085 BLOC-3 complex IPI 12756248
genes like me logo Genes that share ontologies with HPS4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPS4 Gene

Pathways for HPS4 Gene

SuperPathways for HPS4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IDA 12663659
GO:0006996 organelle organization --
GO:0007040 lysosome organization IDA 12663659
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis TAS 11836498
genes like me logo Genes that share ontologies with HPS4: view

No data available for Pathways by source for HPS4 Gene

Transcripts for HPS4 Gene

Unigene Clusters for HPS4 Gene

Hermansky-Pudlak syndrome 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPS4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^
SP1: - -
SP2: - -
SP4: - -
SP5: - -
SP6: -
SP7: - - - - - -
SP9: - -
SP10: - - - - -
SP11: - - - -

ExUns: 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20
SP1: - -
SP3: -
SP4: - - -
SP5: - - - -
SP12: - -

Relevant External Links for HPS4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HPS4 Gene

mRNA expression in normal human tissues for HPS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for HPS4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (50.3) and CD4 Tcells (14.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPS4 Gene

SOURCE GeneReport for Unigene cluster for HPS4 Gene Hs.474436

genes like me logo Genes that share expressions with HPS4: view

Expression partners for HPS4 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HPS4 Gene

Orthologs for HPS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for HPS4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HPS4 35
  • 75.61 (n)
  • 68.58 (a)
HPS4 36
  • 68 (a)
(Canis familiaris)
Mammalia HPS4 35
  • 78.24 (n)
  • 71.69 (a)
HPS4 36
  • 70 (a)
(Mus musculus)
Mammalia Hps4 35
  • 72.26 (n)
  • 65.82 (a)
Hps4 16
Hps4 36
  • 64 (a)
(Pan troglodytes)
Mammalia HPS4 35
  • 99.01 (n)
  • 98.45 (a)
HPS4 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Hps4 35
  • 68.59 (n)
  • 63.14 (a)
(Monodelphis domestica)
Mammalia HPS4 36
  • 56 (a)
(Gallus gallus)
Aves HPS4 35
  • 70.3 (n)
  • 68.68 (a)
HPS4 36
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hps4 35
  • 60.8 (n)
  • 58.3 (a)
(Danio rerio)
Actinopterygii -- 35
hps4 36
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta HPS4 36
  • 16 (a)
Species with no ortholog for HPS4:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 HPS4 Gene

Gene Tree for HPS4 (if available)
Gene Tree for HPS4 (if available)

Paralogs for HPS4 Gene

(1) SIMAP similar genes for HPS4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with HPS4: view

No data available for Paralogs for HPS4 Gene

Variants for HPS4 Gene

Sequence variations from dbSNP and Humsavar for HPS4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs134978 -- 26,452,042(+) cacac(-/AC)TGTCT utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B, intron-variant
rs737800 -- 26,467,593(+) ctact(C/T)gaatt intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs737801 -- 26,467,673(+) AATAC(A/G)TGTAA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs739289 -- 26,466,187(+) AAGAC(A/C)GCCGT intron-variant, reference, synonymous-codon
rs739290 -- 26,468,692(+) TAAAG(A/G)TGCCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HPS4 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
nsv519472 CNV Loss 19592680

Relevant External Links for HPS4 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 HPS4 Gene

Disorders for HPS4 Gene

(1) OMIM Diseases for HPS4 Gene (606682)


  • Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: 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:11836498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for HPS4 Gene

Disease -log(P) Hits PubMed IDs
hermansky-pudlak syndrome 95 3

Relevant External Links for HPS4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HPS4: view

No data available for Genatlas for HPS4 Gene

Publications for HPS4 Gene

  1. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PMID: 11836498) Suzuki T. … Spritz R.A. (Nat. Genet. 2002) 2 3 4 23
  2. 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
  3. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (PMID: 12664304) Anderson P.D. … Gahl W.A. (Hum. Genet. 2003) 3 23
  4. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. (PMID: 12756248) Martina J.A. … Bonifacino J.S. (J. Biol. Chem. 2003) 3 23
  5. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. (PMID: 15108212) Bachli E.B. … Gahl W.A. (Am. J. Med. Genet. A 2004) 3 23

Products for HPS4 Gene

Sources for HPS4 Gene

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