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Aliases for HPS6 Gene

Aliases for HPS6 Gene

  • Hermansky-Pudlak Syndrome 6 2 3
  • RU 4 6
  • Ruby-Eye Protein Homolog 4

External Ids for HPS6 Gene

Previous GeneCards Identifiers for HPS6 Gene

  • GC10P103058
  • GC10P103956
  • GC10P103489
  • GC10P103815
  • GC10P097457

Summaries for HPS6 Gene

Entrez Gene Summary for HPS6 Gene

  • This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

GeneCards Summary for HPS6 Gene

HPS6 (Hermansky-Pudlak Syndrome 6) is a Protein Coding gene. Diseases associated with HPS6 include hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome without pulmonary fibrosis.

UniProtKB/Swiss-Prot for HPS6 Gene

  • May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.

Gene Wiki entry for HPS6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS6 Gene

Genomics for HPS6 Gene

Regulatory Elements for HPS6 Gene

Genomic Location for HPS6 Gene

Start:
102,065,367 bp from pter
End:
102,068,038 bp from pter
Size:
2,672 bases
Orientation:
Plus strand

Genomic View for HPS6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HPS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPS6 Gene

Proteins for HPS6 Gene

  • Protein details for HPS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YV9-HPS6_HUMAN
    Recommended name:
    Hermansky-Pudlak syndrome 6 protein
    Protein Accession:
    Q86YV9
    Secondary Accessions:
    • Q5VV69
    • Q9H685

    Protein attributes for HPS6 Gene

    Size:
    775 amino acids
    Molecular mass:
    82975 Da
    Quaternary structure:
    • Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Directly interacts with HPS5. Interacts with biogenesis of lysosome-related organelles complex-1 (BLOC1). Interacts with AP-3 complex. Interacts with MNAT1 (Probable).
    SequenceCaution:
    • Sequence=BAB15378.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HPS6 Gene

Proteomics data for HPS6 Gene at MOPED

Post-translational modifications for HPS6 Gene

  • Ubiquitination at Lys239, Lys469, Lys534, Lys646, and Lys672
  • Modification sites at PhosphoSitePlus

Other Protein References for HPS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HPS6 Gene

Domains for HPS6 Gene

Protein Domains for HPS6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HPS6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HPS6: view

No data available for Gene Families and UniProtKB/Swiss-Prot for HPS6 Gene

Function for HPS6 Gene

Molecular function for HPS6 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.

Gene Ontology (GO) - Molecular Function for HPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0017137 Rab GTPase binding IPI 22511774
GO:0030742 GTP-dependent protein binding IPI 22511774
genes like me logo Genes that share ontologies with HPS6: view
genes like me logo Genes that share phenotypes with HPS6: view

miRNA for HPS6 Gene

miRTarBase miRNAs that target HPS6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for HPS6 Gene

Localization for HPS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPS6 Gene

Microsome membrane. Cytoplasm, cytosol. Early endosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPS6 Gene COMPARTMENTS Subcellular localization image for HPS6 gene
Compartment Confidence
cytosol 5
endosome 5
endoplasmic reticulum 3
mitochondrion 3
lysosome 2
vacuole 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IDA 19946888
GO:0031084 BLOC-2 complex IPI 15030569
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with HPS6: view

Pathways for HPS6 Gene

SuperPathways for HPS6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization IEA --
GO:0007596 blood coagulation IEA --
GO:0030318 melanocyte differentiation IEA --
GO:0043473 pigmentation --
GO:0072657 protein localization to membrane IMP 22511774
genes like me logo Genes that share ontologies with HPS6: view

No data available for Pathways by source for HPS6 Gene

Transcripts for HPS6 Gene

mRNA/cDNA for HPS6 Gene

(121) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HPS6 Gene

Hermansky-Pudlak syndrome 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPS6 Gene

No ASD Table

Relevant External Links for HPS6 Gene

GeneLoc Exon Structure for
HPS6
ECgene alternative splicing isoforms for
HPS6

Expression for HPS6 Gene

mRNA expression in normal human tissues for HPS6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPS6 Gene

SOURCE GeneReport for Unigene cluster for HPS6 Gene Hs.125133

mRNA Expression by UniProt/SwissProt for HPS6 Gene

Q86YV9-HPS6_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with HPS6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HPS6 Gene

Orthologs for HPS6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HPS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HPS6 35
  • 99.23 (n)
  • 99.23 (a)
HPS6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HPS6 35
  • 86.92 (n)
  • 86.35 (a)
HPS6 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HPS6 35
  • 87.6 (n)
  • 87.99 (a)
HPS6 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hps6 35
  • 82.63 (n)
  • 82.41 (a)
Hps6 16
Hps6 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hps6 35
  • 81.19 (n)
  • 82.15 (a)
chicken
(Gallus gallus)
Aves HPS6 35
  • 55.92 (n)
  • 44.35 (a)
HPS6 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPS6 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hps6 35
  • 48.32 (n)
  • 37.38 (a)
zebrafish
(Danio rerio)
Actinopterygii HPS6 36
  • 33 (a)
OneToOne
LOC101882947 35
  • 46.53 (n)
  • 37.2 (a)
Species with no ortholog for HPS6:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 HPS6 Gene

ENSEMBL:
Gene Tree for HPS6 (if available)
TreeFam:
Gene Tree for HPS6 (if available)

Paralogs for HPS6 Gene

No data available for Paralogs for HPS6 Gene

Variants for HPS6 Gene

Sequence variations from dbSNP and Humsavar for HPS6 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs3816 -- 102,067,980(+) TGTTC(G/T)GTCAT utr-variant-3-prime
rs1337827 -- 102,068,303(+) ACCAA(A/C/G)TTCAT downstream-variant-500B
rs2786847 -- 102,063,378(-) cactg(C/T)acccg upstream-variant-2KB
rs3737243 Benign 102,065,990(+) AGCGG(A/G)GAAGC synonymous-codon, reference
rs3758556 -- 102,067,682(-) GCTTT(A/G)AGCAA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for HPS6 Gene

Variant ID Type Subtype PubMed ID
nsv895968 CNV Loss 21882294
nsv895969 CNV Loss 21882294
nsv482149 CNV Gain 20164927

Relevant External Links for HPS6 Gene

HapMap Linkage Disequilibrium report
HPS6
Human Gene Mutation Database (HGMD)
HPS6
Locus Specific Mutation Databases (LSDB)
HPS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS6 Gene

Disorders for HPS6 Gene

(1) OMIM Diseases for HPS6 Gene (607522)

UniProtKB/Swiss-Prot

HPS6_HUMAN
  • Hermansky-Pudlak syndrome 6 (HPS6) [MIM:614075]: 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:12548288, ECO:0000269 PubMed:17041891}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for HPS6 Gene

Disease -log(P) Hits PubMed IDs
hermansky-pudlak syndrome 94.4 1

Relevant External Links for HPS6

GeneTests
HPS6
GeneReviews
HPS6
Genetic Association Database (GAD)
HPS6
Human Genome Epidemiology (HuGE) Navigator
HPS6
genes like me logo Genes that share disorders with HPS6: view

Publications for HPS6 Gene

  1. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (PMID: 12548288) Zhang Q. … Swank R.T. (Nat. Genet. 2003) 2 3 4
  2. 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 4 23
  3. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. (PMID: 19843503) Huizing M. … Gahl W.A. (J. Med. Genet. 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for HPS6 Gene

Sources for HPS6 Gene

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