Aliases for HPS4 Gene
Aliases for HPS4 Gene
External Ids for HPS4 Gene
- HGNC: 15844
- Entrez Gene: 89781
- Ensembl: ENSG00000100099
- OMIM: 606682
- UniProtKB: Q9NQG7
Previous GeneCards Identifiers for HPS4 Gene
- GC22M023544
- GC22M025172
- GC22M025177
- GC22M026840
- GC22M009795
Summaries 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 (HPS4, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2) is a Protein Coding gene. Diseases associated with HPS4 include Hermansky-Pudlak Syndrome 4 and Hermansky-Pudlak Syndrome With Pulmonary Fibrosis. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity.
UniProtKB/Swiss-Prot for HPS4 Gene
-
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS4 Gene
Genomics for HPS4 Gene
Regulatory Elements for HPS4 Gene
Enhancers for HPS4 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HPS4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HPS4 gene promoter:
Regulatory Element Products
Genomic Location for HPS4 Gene
- Chromosome:
- 22
- Start:
- 26,443,423 bp from pter
- End:
- 26,483,863 bp from pter
- Size:
- 40,441 bases
- Orientation:
- Minus strand
Genomic View for HPS4 Gene
Genes around HPS4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.1 by Ensembl
- 22q12.1 by Entrez Gene
- 22q12.1 by HGNC
HPS4 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 HPS4 Gene
Proteins for HPS4 Gene
-
Protein details for HPS4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NQG7-HPS4_HUMAN
- Recommended name:
- Hermansky-Pudlak syndrome 4 protein
- Protein Accession:
- Q9NQG7
- B1AHQ4
- Q5H8V6
- Q96LX6
- Q9BY93
- Q9UH37
- Q9UH38
Protein attributes for HPS4 Gene
- Size:
- 708 amino acids
- Molecular mass:
- 76919 Da
- Quaternary structure:
-
- Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS4 and the BLOC-3 complex interact with the GTP-bound form of RAB9A and RAB9B but not with the GDP-bound form of RAB9A and RAB9B. The BLOC-3 complex does not interact with RAB5A, RAB7A and RAB27A (PubMed:20048159).
- SequenceCaution:
-
- 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};
Protein Expression for HPS4 Gene
Post-translational modifications for HPS4 Gene
Other Protein References for HPS4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001336825.1
- NP_001336827.1
- NP_001336828.1
- NP_001336829.1
- NP_001336830.1
- NP_001336831.1
- NP_001336832.1
- NP_001336833.1
- NP_001336834.1
- NP_071364.4
- NP_690054.1
- XP_006724416.1
- XP_006724417.1
- XP_006724423.1
- XP_011528787.1
- XP_011528788.1
- XP_011528789.1
- XP_011528790.1
- XP_011528791.1
- XP_011528792.1
- XP_011528793.1
- XP_011528794.1
- XP_011528795.1
- XP_011528796.1
- XP_011528797.1
- XP_011528798.1
- XP_016884531.1
- XP_016884532.1
- XP_016884533.1
- XP_016884534.1
- XP_016884535.1
- XP_016884536.1
- XP_016884537.1
- XP_016884538.1
- XP_016884539.1
- XP_016884540.1
- XP_016884541.1
- XP_016884542.1
- XP_016884543.1
- XP_016884544.1
- XP_016884545.1
- XP_016884546.1
- XP_016884547.1
- XP_016884548.1
- XP_016884549.1
- XP_016884550.1
- XP_016884551.1
- XP_016884552.1
- XP_016884553.1
Antibody Products
- Novus Biologicals Antibodies for HPS4
-
Cloud-Clone Corp. Antibodies for HPS4
- Invitrogen Antibodies for HPS4
- antibodies-online Antibodies for HPS4: See all 2
- Search GeneTex for Antibodies for HPS4
-
Santa Cruz Biotechnology (SCBT) Antibodies for HPS4
Protein Products
-
OriGene Purified Proteins for HPS4
- Search Origene for MassSpec and Protein Over-expression Lysates for HPS4
- Origene Custom Protein Services for HPS4
-
Cloud-Clone Corp. Proteins for HPS4
- Search GeneTex for Proteins for HPS4
Assay Products
- antibodies-online Kits for HPS4: See all 19
No data available for DME Specific Peptides for HPS4 Gene
Domains & Families for HPS4 Gene
Gene Families for HPS4 Gene
Suggested Antigen Peptide Sequences for HPS4 Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HPS4 Gene
Function for HPS4 Gene
Molecular function for HPS4 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | contributes_to guanyl-nucleotide exchange factor activity | IDA | 23084991 |
| GO:0005515 | protein binding | IPI | 12756248 |
| GO:0017137 | Rab GTPase binding | IPI | 20048159 |
| GO:0042803 | protein homodimerization activity | IPI | 12663659 |
| GO:0046983 | protein dimerization activity | IPI | 12663659 |
Phenotypes for HPS4 Gene
- MGI mutant phenotypes for HPS4:
-
inferred from 1 alleles
- cellular phenotype
- growth/size/body region 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 HPS4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HPS4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HPS4 gene
- Search ViGene Biosciences for HPS4
CRISPR Products
-
OriGene CRISPR knockouts for HPS4
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS4
- GenScript: Design CRISPR guide RNA sequences for HPS4
miRNA for HPS4 Gene
- miRTarBase miRNAs that target HPS4
-
- hsa-mir-1-3p (MIRT002809)
- hsa-mir-26b-5p (MIRT029994)
- hsa-mir-1180-3p (MIRT035919)
- hsa-mir-218-5p (MIRT440486)
- hsa-mir-4777-5p (MIRT443032)
- hsa-mir-526a (MIRT443033)
- hsa-mir-523-5p (MIRT443034)
- hsa-mir-522-5p (MIRT443035)
- hsa-mir-520c-5p (MIRT443036)
- hsa-mir-519c-5p (MIRT443037)
- hsa-mir-519b-5p (MIRT443038)
- hsa-mir-519a-5p (MIRT443039)
- hsa-mir-518f-5p (MIRT443040)
- hsa-mir-518e-5p (MIRT443041)
- hsa-mir-518d-5p (MIRT443042)
- hsa-mir-182-3p (MIRT443043)
- hsa-mir-5189-3p (MIRT443044)
- hsa-mir-8067 (MIRT443045)
- hsa-mir-6508-5p (MIRT443046)
- hsa-mir-890 (MIRT443047)
- hsa-mir-8485 (MIRT606949)
- hsa-mir-6760-3p (MIRT607377)
- hsa-mir-603 (MIRT607378)
- hsa-mir-550a-3p (MIRT609932)
- hsa-mir-200c-5p (MIRT609933)
- hsa-mir-6732-3p (MIRT609934)
- hsa-mir-652-5p (MIRT609935)
- hsa-mir-4724-3p (MIRT631314)
- hsa-mir-6782-3p (MIRT631315)
- hsa-mir-3939 (MIRT670141)
miRNA Products
- Search ViGene Biosciences for HPS4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HPS4
- Browse OriGene Inhibitory RNA Products For HPS4
-
ViGene Biosciences ready-to-package AAV shRNAs for HPS4 gene
Cell Line Products
-
Horizon Cell Lines for HPS4
-
ViGene Biosciences adenoviral particle packaged cDNA for HPS4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HPS4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HPS4 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS4 Gene
Localization for HPS4 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| lysosome | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| endosome | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 12756248 |
| GO:0005764 | lysosome | IDA | 12663659 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IDA | 12756248 |
| GO:0031085 | BLOC-3 complex | IPI | 12756248 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPS4 Gene
Pathways & Interactions for HPS4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for HPS4 Gene
3 Reactome pathways for HPS4 Gene
Interacting Proteins for HPS4 Gene
Selected Interacting proteins:
ENSP00000338457
Q9NQG7-HPS4_HUMAN
for HPS4 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006605 | protein targeting | IDA | 12663659 |
| GO:0006996 | organelle organization | IEA | -- |
| GO:0007040 | lysosome organization | IDA | 12663659 |
| GO:0007596 | blood coagulation | IEA | -- |
| GO:0007599 | hemostasis | TAS | 11836498 |
No data available for SIGNOR curated interactions for HPS4 Gene
Transcripts for HPS4 Gene
mRNA/cDNA for HPS4 Gene
- (52) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (268) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPS4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPS4
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS4
- GenScript: Design CRISPR guide RNA sequences for HPS4
miRNA Products
- Search ViGene Biosciences for HPS4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HPS4
- Browse OriGene Inhibitory RNA Products For HPS4
-
ViGene Biosciences ready-to-package AAV shRNAs for HPS4 gene
Flow Cytometry Products
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | |||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||
| SP6: | |||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||
| SP12: | - | - |
Expression for HPS4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
This gene is overexpressed in Peripheral blood mononuclear cells (50.3) and CD4 Tcells (14.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPS4 Gene
NURSA nuclear receptor signaling pathways regulating expression of HPS4 Gene:
HPS4SOURCE GeneReport for Unigene cluster for HPS4 Gene:
Hs.474436Evidence on tissue expression from TISSUES for HPS4 Gene
- Nervous system(4.7)
- Blood(4.2)
- Liver(4.1)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPS4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- urinary
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- face
- head
- mouth
- nose
Thorax:
- heart
- heart valve
- lung
Abdomen:
- intestine
- kidney
- large intestine
- small intestine
Pelvis:
- anus
- ureter
- urinary bladder
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HPS4
-
OriGene qPCR primer pairs and template standards for HPS4
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPS4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HPS4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HPS4 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hps4 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hps4 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HPS4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HPS4 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hps4 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hps4 35 |
|
OneToOne | |
| -- 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | HPS4 35 |
|
OneToOne |
- Species where no ortholog for HPS4 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)
- 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)
Paralogs for HPS4 Gene
(1) SIMAP similar genes for HPS4 Gene using alignment to 7 proteins:
No data available for Paralogs for HPS4 Gene
Variants for HPS4 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs119471021 | Pathogenic | 26,457,923(-) | TCCTC(C/T)AGGCC | intron-variant, nc-transcript-variant, reference, stop-gained | |
| rs119471022 | Pathogenic | 26,470,774(-) | TTCTG(A/C/T)AGACC | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs119471023 | Pathogenic | 26,468,571(-) | TTCAC(C/T)GAACA | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime | |
| rs119471024 | Pathogenic | 26,472,391(-) | GCACG(G/T)AGTGG | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime | |
| rs119471025 | Pathogenic | 26,468,556(-) | CTCAG(G/T)AGCAG | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime |
Residual Variation Intolerance Score:
73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.20;
69.77% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HPS4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS4 Gene
Disorders for HPS4 Gene
(8) MalaCards diseases for HPS4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 4 |
|
|
| hermansky-pudlak syndrome with pulmonary fibrosis |
|
|
| hermansky-pudlak syndrome |
|
|
| hermansky-pudlak syndrome 1 |
|
|
| intestinal disease |
|
|
Search HPS4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HPS4_HUMAN- 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.
Relevant External Links for HPS4
No data available for Genatlas for HPS4 Gene
Publications for HPS4 Gene
- 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 22 64
- 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 22 46 64
- BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A. … Barr F.A. (Curr. Biol. 2012) 3 4 64
- Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. (PMID: 20048159) Kloer D.P. … Bonifacino J.S. (J. Biol. Chem. 2010) 3 4 64
- Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. (PMID: 16431308) Hussain N. … Mannon P. (Clin. Gastroenterol. Hepatol. 2006) 3 46 64
Products for HPS4 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody Services
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- OriGene Purified Proteins for HPS4
- Search Origene for MassSpec and Protein Over-expression Lysates for HPS4
- Origene Custom Protein Services for HPS4
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HPS4
- Browse OriGene Inhibitory RNA Products For HPS4
- OriGene qPCR primer pairs and template standards for HPS4
- OriGene qPCR primer pairs for HPS4
- OriGene CRISPR knockouts for HPS4
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- GenScript: Next-day shipping cDNA ORF clone for HPS4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HPS4
- GenScript Custom Assay Services for HPS4
- GenScript Custom overexpressing Cell Line Services for HPS4
- GenScript: Design CRISPR guide RNA sequences for HPS4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HPS4
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HPS4
- Novus Biologicals proteins and lysates for HPS4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for HPS4
- Cloud-Clone Corp. Proteins for HPS4
- Browse Assay Kits at Cloud-Clone Corp.
- antibodies-online Antibodies for HPS4: See all 2
- antibodies-online Kits for HPS4: See all 19
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for HPS4
- Search GeneTex for Proteins for HPS4
- ViGene Biosciences adenoviral particle packaged cDNA for HPS4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HPS4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HPS4 gene
- Search ViGene Biosciences for HPS4
- Santa Cruz Biotechnology (SCBT) Antibodies for HPS4
- Search Santa Cruz Biotechnology (SCBT) for HPS4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HPS4
- Horizon Cell Lines for HPS4
- Cyagen custom Knockout/knockin (KOKI) mouse models for HPS4
- VectorBuilder custom plasmid, inducible vectors for HPS4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HPS4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HPS4 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
- (19) MINT
- (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
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (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
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (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