Aliases for HPS3 Gene
Aliases for HPS3 Gene
External Ids for HPS3 Gene
- HGNC: 15597
- Entrez Gene: 84343
- Ensembl: ENSG00000163755
- OMIM: 606118
- UniProtKB: Q969F9
Previous GeneCards Identifiers for HPS3 Gene
- GC03P145796
- GC03P149732
- GC03P150128
- GC03P150168
- GC03P150330
- GC03P148847
- GC03P146218
Summaries 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS3 Gene
Genomics for HPS3 Gene
Regulatory Elements for HPS3 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH03G149213 | 1.3 | Ensembl ENCODE | 17.4 | +90.3 | 90286 | 13.0 | FOXA2 PKNOX1 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 | CP HPS3 COMMD2 HLTF GC03M149178 |
| GH03G149242 | 1.2 | Ensembl ENCODE | 16.5 | +116.5 | 116479 | 6.2 | PKNOX1 FOXA2 FEZF1 TCF12 FOS JUNB REST MAFF SMARCA4 PBX2 | CP HPS3 COMMD2 LOC101927942 ENSG00000244468 |
| GH03G149338 | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 10.7 | +211.4 | 211392 | 5.6 | ELF3 TBP FOXA2 NFIB SIN3A RAD21 RFX5 GATA2 ZNF366 ELK1 | TM4SF1 TM4SF1-AS1 HPS3 TM4SF18 GC03M149358 |
| GH03G149156 | 0.4 | dbSUPER | 16.7 | +27.9 | 27931 | 2.0 | ZNF335 ZNF843 | HPS3 CP UBQLN4P1 GYG1 HLTF GC03M149173 |
| GH03G149144 | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 4.8 | +16.8 | 16841 | 3.5 | GATA3 KLF1 KLF9 ETV6 SPI1 NR2F2 | HLTF HLTF-AS1 GYG1 HPS3 GC03M149173 |
- Transcription factor binding sites by QIAGEN in the HPS3 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 3q24 by Ensembl
- 3q24 by Entrez Gene
- 3q24 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- A8K6G6
- Q8WTV6
- Q96AP1
- Q96MR3
- Q9H608
Protein attributes for HPS3 Gene
- Size:
- 1004 amino acids
- Molecular mass:
- 113736 Da
- Quaternary structure:
-
- Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 (PubMed:15030569). Interacts with HPS6 (PubMed:15030569, PubMed:25189619).
- 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};
Protein Expression for HPS3 Gene
Post-translational modifications for HPS3 Gene
Other Protein References for HPS3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HPS3
-
Abcam antibodies for HPS3
- Invitrogen Antibodies for HPS3
- antibodies-online Antibodies for HPS3: See all 48
- GeneTex HPS3 antibody for HPS3
Protein Products
-
OriGene Purified Proteins for HPS3
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- antibodies-online Proteins for HPS3: See all 4
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-
Abcam proteins for HPS3
Assay Products
- antibodies-online Kits for HPS3: See all 19
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
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25189619 |
Phenotypes for HPS3 Gene
- MGI mutant phenotypes for HPS3:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for HPS3:
Animal Model Products
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-
ViGene Biosciences lentiviral particle packaged cDNA for HPS3 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for HPS3
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS3
- GenScript: Design CRISPR guide RNA sequences for HPS3
miRNA for HPS3 Gene
- miRTarBase miRNAs that target HPS3
miRNA Products
- Search ViGene Biosciences for HPS3
Inhibitory RNA Products
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-
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for HPS3
-
ViGene Biosciences adenoviral particle packaged cDNA for HPS3 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , 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. Cytoplasm, cytosol.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0031084 | BLOC-2 complex | IPI | 15030569 |
Pathways & Interactions for HPS3 Gene
Interacting Proteins for HPS3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006996 | organelle organization | IEA | -- |
| GO:0043473 | pigmentation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HPS3 Gene
Transcripts for HPS3 Gene
mRNA/cDNA for HPS3 Gene
- (4) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (148) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPS3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPS3
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS3
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miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
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Flow Cytometry Products
| 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: | - | - | - |
Expression for HPS3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPS3 Gene
NURSA nuclear receptor signaling pathways regulating expression of HPS3 Gene:
HPS3SOURCE GeneReport for Unigene cluster for HPS3 Gene:
Hs.591311mRNA Expression by UniProt/SwissProt for HPS3 Gene:
Q969F9-HPS3_HUMANEvidence on tissue expression from TISSUES for HPS3 Gene
- Intestine(4.2)
- Kidney(4.2)
- Nervous system(2.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPS3 Gene
- ectoderm
- mesoderm
- cardiovascular
- integumentary
- nervous
- brain
- cranial nerve
- eye
- face
- head
- nose
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HPS3
-
OriGene qPCR primer pairs and template standards for HPS3
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPS3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HPS3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HPS3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hps3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hps3 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HPS3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | HPS3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HPS3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hps3 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hps3 34 35 |
|
- Species where no ortholog for HPS3 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)
- 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)
Paralogs for HPS3 Gene
(1) SIMAP similar genes for HPS3 Gene using alignment to 5 proteins:
No data available for Paralogs for HPS3 Gene
Variants for HPS3 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121908316 | Pathogenic, Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072] | 149,150,624(+) | CTGTG(C/T)GGTGC | nc-transcript-variant, reference, missense | |
| rs747708121 | A colorectal cancer sample | 149,150,625(+) | TGTGC(A/G)GTGCA | nc-transcript-variant, reference, missense | |
| rs201227603 | Pathogenic | 149,145,547(-) | CAGTA(C/T)CTTGT | splice-donor-variant | |
| rs281865093 | Pathogenic | 149,157,533(-) | CACCC(A/C)CCTGC | splice-donor-variant | |
| rs281865095 | Pathogenic | 149,163,950(-) | ACTTA(A/C/G)CTGTA | intron-variant, splice-donor-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2672056 | CNV | deletion | 23128226 |
| esv3598139 | CNV | loss | 21293372 |
| esv3598140 | CNV | loss | 21293372 |
| nsv998572 | CNV | loss | 25217958 |
Relevant External Links for HPS3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS3 Gene
Disorders for HPS3 Gene
(5) MalaCards diseases for HPS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 3 |
|
|
| hermansky-pudlak syndrome without pulmonary fibrosis |
|
|
| hermansky-pudlak syndrome |
|
|
| oculocutaneous albinism |
|
|
| storage pool platelet disease |
|
|
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
No data available for Genatlas for HPS3 Gene
Publications for HPS3 Gene
- 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 22 64
- 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 22 46 64
- 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
- Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (PMID: 11590544) Huizing M. … Gahl W.A. (Am. J. Hum. Genet. 2001) 3 4 22 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
Products for HPS3 Gene
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- antibodies-online Antibodies for HPS3: See all 48
- antibodies-online Kits for HPS3: See all 19
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HPS3 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
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- (128) Genetics Home Reference
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
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- (147) VectorBuilder
- (148) SNPedia
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- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




