Aliases for HPS6 Gene
Aliases for HPS6 Gene
External Ids for HPS6 Gene
- HGNC: 18817
- Entrez Gene: 79803
- Ensembl: ENSG00000166189
- OMIM: 607522
- UniProtKB: Q86YV9
Previous GeneCards Identifiers for HPS6 Gene
- GC10P103058
- GC10P103956
- GC10P103489
- GC10P103815
- GC10P097457
Summaries 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 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3) is a Protein Coding gene. Diseases associated with HPS6 include Hermansky-Pudlak Syndrome 6 and Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis. GO annotations related to this gene include Rab GTPase binding and GTP-dependent protein binding.
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 (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS6 Gene
Genomics for HPS6 Gene
Regulatory Elements for HPS6 Gene
Enhancers for HPS6 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HPS6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HPS6 gene promoter:
Regulatory Element Products
Genomic Location for HPS6 Gene
- Chromosome:
- 10
- 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
Genes around HPS6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.32 by Ensembl
- 10q24.32 by Entrez Gene
- 10q24.32 by HGNC
HPS6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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. Interacts with HPS5 and HPS3 (PubMed:15030569, PubMed:25189619). Interacts with biogenesis of lysosome-related organelles complex-1 (BLOC1). Interacts with AP-3 complex (PubMed:16837549). Interacts with MNAT1 (Probable). Interacts with DCTN1 and dynein intermediate chain (PubMed:25189619).
- SequenceCaution:
-
- Sequence=BAB15378.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HPS6 Gene
Post-translational modifications for HPS6 Gene
Other Protein References for HPS6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HPS6
- Invitrogen Antibodies for HPS6
- antibodies-online Antibodies for HPS6: See all 32
- GeneTex HPS6 antibody for HPS6
-
Santa Cruz Biotechnology (SCBT) Antibodies for HPS6
Protein Products
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- antibodies-online Proteins for HPS6: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HPS6
Assay Products
- antibodies-online Kits for HPS6: See all 23
No data available for DME Specific Peptides for HPS6 Gene
Domains & Families for HPS6 Gene
Gene Families 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
No data available for 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 (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25189619 |
| GO:0017137 | Rab GTPase binding | IPI | 22511774 |
| GO:0030742 | GTP-dependent protein binding | IPI | 22511774 |
Phenotypes for HPS6 Gene
- MGI mutant phenotypes for HPS6:
-
inferred from 9 alleles
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HPS6:
Animal Model Products
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-
ViGene Biosciences lentiviral particle packaged cDNA for HPS6 gene
-
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- Search ViGene Biosciences for HPS6
CRISPR Products
-
OriGene CRISPR knockouts for HPS6
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS6
- GenScript: Design CRISPR guide RNA sequences for HPS6
miRNA for HPS6 Gene
- miRTarBase miRNAs that target HPS6
miRNA Products
- Search ViGene Biosciences for HPS6
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HPS6
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-
ViGene Biosciences ready-to-package AAV shRNAs for HPS6 gene
Cell Line Products
-
Horizon Cell Lines for HPS6
-
ViGene Biosciences adenoviral particle packaged cDNA for HPS6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HPS6 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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. Lysosome membrane.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| lysosome | 5 |
| endosome | 4 |
| mitochondrion | 3 |
| endoplasmic reticulum | 3 |
| plasma membrane | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | lysosomal membrane | IEA,IDA | 25189619 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
Pathways & Interactions for HPS6 Gene
No Data Available
Interacting Proteins 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:0032418 | lysosome localization | IMP | 25189619 |
| GO:0043473 | pigmentation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HPS6 Gene
Transcripts for HPS6 Gene
mRNA/cDNA for HPS6 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (121) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPS6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPS6
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS6
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for HPS6 gene
Flow Cytometry Products
Expression for HPS6 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (17.8), Testis (11.2), and Adrenal (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPS6 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HPS6 Gene:
HPS6SOURCE GeneReport for Unigene cluster for HPS6 Gene:
Hs.125133mRNA Expression by UniProt/SwissProt for HPS6 Gene:
Q86YV9-HPS6_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for HPS6 Gene
- Skin(4.3)
- Kidney(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPS6 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
Organs:
Head and neck:
- brain
- cranial nerve
- eye
- face
- head
- nose
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HPS6
-
OriGene qPCR primer pairs and template standards for HPS6
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPS6 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HPS6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HPS6 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hps6 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hps6 34 |
|
||
| chicken (Gallus gallus) |
Aves | HPS6 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HPS6 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hps6 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101882947 34 |
|
||
| HPS6 35 |
|
OneToOne |
- Species where no ortholog for HPS6 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for HPS6 Gene
No data available for Paralogs for HPS6 Gene
Variants for HPS6 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs281865107 | Pathogenic | 102,065,697(-) | GGGCT(A/G)GCCGG | reference, stop-gained | |
| rs281865109 | Pathogenic | 102,066,289(-) | CCCAG(A/G)TGTGT | reference, missense | |
| rs281865110 | Pathogenic | 102,066,387(-) | CTCCT(A/G)CAGGG | reference, stop-gained | |
| rs281865112 | Pathogenic | 102,066,708(-) | CCGCT(A/G)GTAGT | reference, stop-gained | |
| rs281865113 | Pathogenic | 102,067,187(-) | TGGCA(-/CAGA)CACTG | reference, frameshift-variant |
Residual Variation Intolerance Score:
22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.90;
35.37% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HPS6 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS6 Gene
Disorders for HPS6 Gene
(8) MalaCards diseases for HPS6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 6 |
|
|
| hermansky-pudlak syndrome without pulmonary fibrosis |
|
|
| hermansky-pudlak syndrome |
|
|
| hermansky-pudlak syndrome 5 |
|
|
| hermansky-pudlak syndrome 3 |
|
|
Search HPS6 in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for HPS6
No data available for Genatlas for HPS6 Gene
Publications for HPS6 Gene
- 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 22 64
- 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 64
- HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. (PMID: 25189619) Li K. … Liu J.J. (J. Cell. Sci. 2014) 3 4 64
- Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. (PMID: 19843503) Huizing M. … Gahl W.A. (J. Med. Genet. 2009) 3 22 64
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
Products for HPS6 Gene
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- Novus Biologicals Antibodies for HPS6
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- antibodies-online Antibodies for HPS6: See all 32
- antibodies-online Kits for HPS6: See all 23
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HPS6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
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- (90) Invitrogen
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- (92) Vector BioLabs
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- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (122) diseasecard
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- (128) Genetics Home Reference
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- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer