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. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding.
UniProtKB/Swiss-Prot for HS1BP3 Gene
-
May be a modulator of IL-2 signaling.
Additional gene information for HS1BP3 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HS1BP3 Gene
Genomics for HS1BP3 Gene
GeneHancer (GH) Regulatory Elements for HS1BP3 Gene
Promoters and enhancers for HS1BP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HS1BP3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for HS1BP3 Gene
Genomic Locations for HS1BP3 Gene
- chr2:20,560,448-20,651,104
- (GRCh38/hg38)
- Size:
- 90,657 bases
- Orientation:
- Minus strand
- chr2:20,760,208-20,850,864
- (GRCh37/hg19)
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
No Post-translational modifications
Other Protein References for HS1BP3 Gene
Antibody Products
- Novus Biologicals Antibodies for HS1BP3
- Invitrogen Antibodies for HS1BP3
- GeneTex HS1BP3 antibody 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: Search results for 4 available HS1BP3 Proteins ranked by validation data
- Compare Top HS1BP3 Proteins
-
Quality Products:
- Search GeneTex for Proteins for HS1BP3
-
Abcam proteins for HS1BP3
Assay Products
- antibodies-online: Search results for 2 available HS1BP3 Elisa Kits ranked by validation data
- Compare Top HS1BP3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for HS1BP3 Gene
Domains & Families for HS1BP3 Gene
Gene Families for HS1BP3 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for HS1BP3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot 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
- Browse CRISPR knockouts for HS1BP3
- genomics-online: gRNA clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
- Applied Biological Materials CRISPR for HS1BP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 and shrna products in human, mouse, rat for HS1BP3
- Browse OriGene Inhibitory RNA Products For HS1BP3
- genomics-online: shRNA clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
-
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
- Applied Biological Materials Clones for HS1BP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 |
- Cytosol (2)
- Nucleoli (2)
| 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
- Browse CRISPR knockouts for HS1BP3
- genomics-online: gRNA clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
- Applied Biological Materials CRISPR for HS1BP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 and shrna products in human, mouse, rat for HS1BP3
- Browse OriGene Inhibitory RNA Products For HS1BP3
- genomics-online: shRNA clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
-
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
- Applied Biological Materials Clones for HS1BP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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.531785Evidence on tissue expression from TISSUES for HS1BP3 Gene
- Nervous system(4.3)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for HS1BP3
-
OriGene qPCR primer pairs and template standards for HS1BP3
- genomics-online: primer clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | HS1BP3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HS1BP3 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hs1bp3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Hs1bp3 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HS1BP3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HS1BP3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HS1BP3 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HS1BP3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hs1bp3 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32792 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC553223 33 |
|
||
| HS1BP3 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000063753 | -- | 20,568,998(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000104558 | -- | 20,587,387(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000181905 | -- | 20,594,390(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000197065 | -- | 20,564,072(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000209363 | -- | 20,637,393(-) | C/A | 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)
Additional Variant Information 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
Additional Disease Information for HS1BP3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JJ … Rooney JP (Neurology 2005) 2 3 22 58
- DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. (PMID: 19524641) Keeling BH … Farrer MJ (Neuroscience letters 2009) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PMID: 10590261) Takemoto Y … Hashimoto Y (International immunology 1999) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for HS1BP3 Gene
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- Invitrogen Antibodies for HS1BP3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- antibodies-online: Search results for 46 available HS1BP3 Antibodies ranked by validation data
- Compare Top HS1BP3 Antibodies
- antibodies-online: Search results for 2 available HS1BP3 Elisa Kits ranked by validation data
- Compare Top HS1BP3 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 4 available HS1BP3 Proteins ranked by validation data
- Compare Top HS1BP3 Proteins
- Quality Products:
- 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 ready-to-package AAV shRNAs for HS1BP3 gene
- Search ViGene Biosciences for HS1BP3
- Horizon Cell Lines for HS1BP3
- genomics-online: cdna clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
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- Overview of 78 available HS1BP3 gene related products
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- Overview of 78 available HS1BP3 gene related products
- genomics-online: primer clones - Search results for 78 available HS1BP3 gene related products
- Overview of 78 available HS1BP3 gene related products
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- Overview of 78 available HS1BP3 gene related products
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
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (120) Genetics Home Reference
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- (123) CDC
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- (133) ENCODE
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- (135) Horizon
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- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew