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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around HS1BP3 on UCSC Golden Path with GeneCards custom track
Promoters for HS1BP3 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HS1BP3
- Invitrogen Antibodies for HS1BP3
- antibodies-online Antibodies for HS1BP3: See all 36
- GeneTex HS1BP3 antibody for HS1BP3
-
Santa Cruz Biotechnology (SCBT) 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.
Phenotypes for HS1BP3 Gene
- GenomeRNAi human phenotypes for HS1BP3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
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
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 siRNA, mouse_rna, shRNA, 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
- OriGene clones in human for HS1BP3
- OriGene ORF clones in human,mouse for HS1BP3
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
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) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HS1BP3 Gene
Localization for HS1BP3 Gene
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| mitochondrion | 4 |
| nucleus | 4 |
| cytosol | 3 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HS1BP3 Gene
Pathways & Interactions for HS1BP3 Gene
More details on SuperPathways for HS1BP3
No Data Available
Interacting Proteins for HS1BP3 Gene
No data available for Pathways by source and SIGNOR curated interactions for HS1BP3 Gene
Transcripts for HS1BP3 Gene
mRNA/cDNA for HS1BP3 Gene
- (1) 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
-
Santa Cruz Biotechnology (SCBT) CRISPR for HS1BP3
- GenScript: Design CRISPR guide RNA sequences for HS1BP3
miRNA Products
- Search ViGene Biosciences for HS1BP3
Inhibitory RNA Products
- Origene siRNA, mouse_rna, shRNA, 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
- OriGene clones in human for HS1BP3
- OriGene ORF clones in human,mouse for HS1BP3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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, MOPED, and MaxQB for HS1BP3 Gene
SOURCE GeneReport for Unigene cluster for HS1BP3 Gene Hs.531785
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for HS1BP3
-
OriGene qPCR primer pairs and template standards 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 |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | HS1BP3 35 |
|
||
| HS1BP3 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | HS1BP3 35 |
|
||
| HS1BP3 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Hs1bp3 35 |
|
||
| Hs1bp3 16 |
|
||||
| Hs1bp3 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | HS1BP3 35 |
|
||
| HS1BP3 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Hs1bp3 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HS1BP3 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HS1BP3 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HS1BP3 35 |
|
||
| HS1BP3 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | HS1BP3 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hs1bp3 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32792 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC553223 35 |
|
||
| HS1BP3 36 |
|
OneToOne |
- Species with no ortholog for HS1BP3:
-
- 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 |
|---|---|---|---|---|---|
| rs2305458 | - | 20,624,738(-) | CATCC(A/G)TGGAC | reference, missense | |
| rs35589938 | - | 20,623,999(-) | TCGGC(A/G)GGGCC | reference, missense | |
| rs35579164 | - | 20,619,123(-) | TCCCC(A/C/G)CAAAG | reference, missense | |
| rs3732149 | - | 20,619,004(-) | AGGCC(A/C/G)CCCCC | reference, missense | |
| rs1550103 | -- | 20,649,676(+) | GGAAA(A/G)AGGAG | 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
- Human Gene Mutation Database (HGMD)
- HS1BP3
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 23 67
- Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PMID: 10590261) Takemoto Y. … Hashimoto Y. (Int. Immunol. 1999) 2 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
- A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
Products for HS1BP3 Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody Services
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- Custom Assay Services
- OriGene Purified Proteins for HS1BP3
- Search Origene for MassSpec and Protein Over-expression Lysates for HS1BP3
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- Origene siRNA, mouse_rna, shRNA, and RNAi products in human, mouse, rat for HS1BP3
- Browse OriGene Inhibitory RNA Products For HS1BP3
- OriGene qPCR primer pairs for HS1BP3
- OriGene qPCR primer pairs and template standards for HS1BP3
- OriGene CRISPR knockouts for HS1BP3
- OriGene clones in human for HS1BP3
- OriGene ORF clones in human,mouse for HS1BP3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Novus Biologicals Antibodies for HS1BP3
- Novus Biologicals proteins and lysates for HS1BP3
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- 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
- Search GeneTex for Proteins for HS1BP3
- ViGene Biosciences adenoviral particle packaged cDNA for HS1BP3 gene
- ViGene Biosciences lentiviral 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
- ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HS1BP3 gene
- Search ViGene Biosciences for HS1BP3
- Search ViGene Biosciences for HS1BP3
- Santa Cruz Biotechnology (SCBT) Antibodies for HS1BP3
- Search Santa Cruz Biotechnology (SCBT) for HS1BP3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HS1BP3
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
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- (28) AceView
- (29) RNAdb
- (30) ASD
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- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
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- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
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- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
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