Aliases for HS1BP3 Gene
Aliases for HS1BP3 Gene
External Ids for HS1BP3 Gene
- HGNC: 24979
- Entrez Gene: 64342
- Ensembl: ENSG00000118960
- OMIM: 609359
- UniProtKB: Q53T59
Previous GeneCards Identifiers for HS1BP3 Gene
- GC02M020740
- GC02M020682
- GC02M020760
- GC02M020574
Summaries for HS1BP3 Gene
-
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
GeneCards Summary for HS1BP3 Gene
HS1BP3 (HCLS1 Binding Protein 3) is a Protein Coding gene. Diseases associated with HS1BP3 include Bell's Palsy and Essential Tremor. GO annotations related to this gene include phosphatidylinositol binding.
UniProtKB/Swiss-Prot for HS1BP3 Gene
-
May be a modulator of IL-2 signaling.
No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HS1BP3 Gene
Genomics for HS1BP3 Gene
Regulatory Elements for HS1BP3 Gene
Enhancers for HS1BP3 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 |
|---|---|---|---|---|---|---|---|---|
| GH02F020428 | 1.6 | FANTOM5 Ensembl ENCODE | 14.4 | +221.3 | 221304 | 3.2 | HDAC1 CBX3 PKNOX1 ATF1 DNMT3B GATA2 SCRT2 FOS CREM ZBTB2 | HS1BP3 ENSG00000228950 LOC105373465 RHOB |
| GH02F020378 | 1.4 | Ensembl ENCODE | 13.9 | +272.1 | 272128 | 1.6 | PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 | HS1BP3 TTC32 SLC7A15P GC02P020358 |
| GH02F020674 | 1.3 | Ensembl ENCODE | 12.7 | -25.4 | -25378 | 3.4 | ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF143 FOS | LDAH HS1BP3 GDF7 GC02P020678 |
| GH02F020499 | 1.1 | Ensembl ENCODE | 13.9 | +149.8 | 149786 | 4.2 | PKNOX1 ATF1 KLF17 RAD21 ZBTB40 BRCA1 RFX5 POLR3A FOS CREM | HS1BP3 TTC32 ENSG00000227047 ENSG00000279307 |
| GH02F020612 | 1.6 | FANTOM5 Ensembl ENCODE | 7.4 | +33.5 | 33539 | 9.3 | ATF1 PKNOX1 MLX ARID4B FEZF1 ZNF48 YY1 ZNF121 SLC30A9 GLIS2 | RHOB HS1BP3 ENSG00000269976 SDC1 GDF7 GC02M020612 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HS1BP3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HS1BP3 gene promoter:
Regulatory Element Products
Genomic Location for HS1BP3 Gene
- Chromosome:
- 2
- Start:
- 20,560,448 bp from pter
- End:
- 20,651,104 bp from pter
- Size:
- 90,657 bases
- Orientation:
- Minus strand
Genomic View for HS1BP3 Gene
Genes around HS1BP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p24.1 by Ensembl
- 2p24.1 by Entrez Gene
- 2p24.1 by HGNC
HS1BP3 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 HS1BP3 Gene
Proteins for HS1BP3 Gene
-
Protein details for HS1BP3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q53T59-H1BP3_HUMAN
- Recommended name:
- HCLS1-binding protein 3
- Protein Accession:
- Q53T59
- B2RAW2
- D6W529
- Q86VC2
- Q8N367
Protein attributes for HS1BP3 Gene
- Size:
- 392 amino acids
- Molecular mass:
- 42780 Da
- Quaternary structure:
-
- Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro (By similarity).
Protein Expression for HS1BP3 Gene
Post-translational modifications for HS1BP3 Gene
Other Protein References for HS1BP3 Gene
Antibody Products
- Novus Biologicals Antibodies for HS1BP3
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- antibodies-online Antibodies for HS1BP3: See all 36
- GeneTex HS1BP3 antibody for HS1BP3
-
St John's Laboratory Antibodies for HS1BP3
Protein Products
-
OriGene Purified Proteins for HS1BP3
- Search Origene for MassSpec and Protein Over-expression Lysates for HS1BP3
- Origene Custom Protein Services for HS1BP3
- antibodies-online Proteins for HS1BP3: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HS1BP3
Assay Products
- antibodies-online Kits for HS1BP3: See all 2
No data available for DME Specific Peptides for HS1BP3 Gene
Domains & Families for HS1BP3 Gene
Suggested Antigen Peptide Sequences for HS1BP3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q53T59- Domain:
-
- Contains 1 PX (phox homology) domain.
No data available for Gene Families for HS1BP3 Gene
Function for HS1BP3 Gene
Molecular function for HS1BP3 Gene
- UniProtKB/Swiss-Prot Function:
- May be a modulator of IL-2 signaling.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0035091 | phosphatidylinositol binding | IEA | -- |
Phenotypes for HS1BP3 Gene
- GenomeRNAi human phenotypes for HS1BP3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for HS1BP3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
- Search ViGene Biosciences for HS1BP3
CRISPR Products
-
OriGene CRISPR knockouts for HS1BP3
- GenScript: Design CRISPR guide RNA sequences for HS1BP3
miRNA for HS1BP3 Gene
- miRTarBase miRNAs that target HS1BP3
miRNA Products
- Search ViGene Biosciences for HS1BP3
Inhibitory RNA Products
- Origene shRNA, siRNA, mouse_rna, and RNAi products in human, mouse, rat for HS1BP3
- Browse OriGene Inhibitory RNA Products For HS1BP3
-
ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HS1BP3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HS1BP3
-
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
Cell Line Products
-
Horizon Cell Lines for HS1BP3
-
ViGene Biosciences adenoviral particle packaged cDNA for HS1BP3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HS1BP3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HS1BP3 Gene
Localization for HS1BP3 Gene
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | 21699750 |
| GO:0005783 | endoplasmic reticulum | IDA | 21699750 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for HS1BP3 Gene
Pathways & Interactions for HS1BP3 Gene
No Data Available
Interacting Proteins for HS1BP3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0042981 | regulation of apoptotic process | IMP | 21699750 |
No data available for Pathways by source and SIGNOR curated interactions for HS1BP3 Gene
Transcripts for HS1BP3 Gene
mRNA/cDNA for HS1BP3 Gene
- (7) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (126) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HS1BP3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HS1BP3
- GenScript: Design CRISPR guide RNA sequences for HS1BP3
miRNA Products
- Search ViGene Biosciences for HS1BP3
Inhibitory RNA Products
- Origene shRNA, siRNA, mouse_rna, and RNAi products in human, mouse, rat for HS1BP3
- Browse OriGene Inhibitory RNA Products For HS1BP3
-
ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HS1BP3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HS1BP3
-
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
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||
| SP6: |
Expression for HS1BP3 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (10.9) and Breast (10.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HS1BP3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HS1BP3 Gene:
HS1BP3SOURCE GeneReport for Unigene cluster for HS1BP3 Gene:
Hs.531785Primer Products
-
OriGene qPCR primer pairs and template standards for HS1BP3
-
OriGene qPCR primer pairs for HS1BP3
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HS1BP3 Gene
Orthologs for HS1BP3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HS1BP3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HS1BP3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HS1BP3 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hs1bp3 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hs1bp3 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HS1BP3 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HS1BP3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HS1BP3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HS1BP3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hs1bp3 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32792 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC553223 34 |
|
||
| HS1BP3 35 |
|
OneToOne |
- Species where no ortholog for HS1BP3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 HS1BP3 Gene
No data available for Paralogs for HS1BP3 Gene
Variants for HS1BP3 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000829 | -- | 20,595,422(+) | CTCCT(C/G/T)CTCCT | intron-variant | |
| rs1000830 | -- | 20,595,685(+) | TCTTC(C/T)GTGAC | intron-variant | |
| rs10153627 | -- | 20,599,611(+) | TGTAa(C/T)acaca | intron-variant | |
| rs10153731 | -- | 20,597,394(+) | CGGAG(C/T)TCCAG | intron-variant | |
| rs10153843 | -- | 20,599,510(+) | TGGAG(A/G)CAGGC | intron-variant |
Residual Variation Intolerance Score:
80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.49;
71.75% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HS1BP3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS1BP3 Gene
Disorders for HS1BP3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bell's palsy |
|
|
| essential tremor |
|
|
Search HS1BP3 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HS1BP3
No data available for UniProtKB/Swiss-Prot and Genatlas for HS1BP3 Gene
Publications for HS1BP3 Gene
- A variant in the HS1-BP3 gene is associated with familial essential tremor. (PMID: 15699368) Higgins J.J. … Rooney J.P. (Neurology 2005) 2 3 22 64
- DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. (PMID: 19524641) Keeling B.H. … Farrer M.J. (Neurosci. Lett. 2009) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PMID: 10590261) Takemoto Y. … Hashimoto Y. (Int. Immunol. 1999) 2 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for HS1BP3 Gene
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- OriGene Purified Proteins for HS1BP3
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- Novus Biologicals Antibodies for HS1BP3
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- antibodies-online Antibodies for HS1BP3: See all 36
- antibodies-online Kits for HS1BP3: See all 2
- antibodies-online Proteins for HS1BP3: See all 5
- Search antibodies-online for peptides
- GeneTex HS1BP3 antibody for HS1BP3
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- ViGene Biosciences adenoviral particle packaged cDNA for HS1BP3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HS1BP3 gene
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- Horizon Cell Lines for HS1BP3
- Cyagen custom Knockout/knockin (KOKI) mouse models for HS1BP3
- VectorBuilder custom plasmid, inducible vectors for HS1BP3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HS1BP3
- 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 HS1BP3 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
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- (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) 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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- (100) COMPARTMENTS
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- (105) antibodies-online
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