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Aliases for HS1BP3 Gene

Aliases for HS1BP3 Gene

  • HCLS1 Binding Protein 3 2 3 5
  • HS1-Binding Protein 3 3 4
  • HSP1BP-3 3 4
  • HCLS1-Binding Protein 3 3
  • HS1-BP3 3
  • ETM2 3

External Ids for HS1BP3 Gene

Previous GeneCards Identifiers for HS1BP3 Gene

  • GC02M020740
  • GC02M020682
  • GC02M020760
  • GC02M020574

Summaries for HS1BP3 Gene

Entrez Gene Summary 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
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I020649 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.1 61 2.2 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF207 ZNF143 HS1BP3 GDF7 GC02M020612
GH02I020430 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 13.7 +220.1 220060 0.3 HDAC1 ATF1 PKNOX1 BATF IRF4 DNMT3B TCF12 ZNF766 EGR1 SCRT2 HS1BP3 LOC105373465 RHOB
GH02I020429 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +221.3 221311 1.2 KLF1 HLF JUNB MAX BATF IRF4 ATF2 NFIL3 ZNF692 CEBPA HS1BP3 ENSG00000228950 LOC105373465 RHOB
GH02I020674 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.7 -25.5 -25460 3.2 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 FOS RUNX3 GC02P020678 LDAH HS1BP3 GDF7
GH02I020613 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +33.1 33124 8.5 PKNOX1 CLOCK ATF1 FOXA2 MLX ARID4B NEUROD1 FEZF1 ZNF48 ETS1 GC02M020612 RHOB HS1BP3 ENSG00000269976 SDC1 GDF7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HS1BP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HS1BP3 gene promoter:

Genomic Locations for HS1BP3 Gene

Genomic Locations for HS1BP3 Gene
90,657 bases
Minus strand

Genomic View for HS1BP3 Gene

Genes around HS1BP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HS1BP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HS1BP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HS1BP3 Gene

Proteins for HS1BP3 Gene

  • Protein details for HS1BP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    HCLS1-binding protein 3
    Protein Accession:
    Secondary Accessions:
    • B2RAW2
    • D6W529
    • Q86VC2
    • Q8N367

    Protein attributes for HS1BP3 Gene

    392 amino acids
    Molecular mass:
    42780 Da
    Quaternary structure:
    • Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro (By similarity).

neXtProt entry for HS1BP3 Gene

Post-translational modifications for HS1BP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for HS1BP3 Gene


Suggested Antigen Peptide Sequences for HS1BP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HS1BP3: view

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.

Gene Ontology (GO) - Molecular Function for HS1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with HS1BP3: view

Phenotypes for HS1BP3 Gene

genes like me logo Genes that share phenotypes with HS1BP3: view

miRNA for HS1BP3 Gene

miRTarBase miRNAs that target HS1BP3

Clone Products

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

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HS1BP3 gene
Compartment Confidence
mitochondrion 4
nucleus 4
endoplasmic reticulum 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HS1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 21699750
GO:0005783 endoplasmic reticulum IDA 21699750
genes like me logo Genes that share ontologies with HS1BP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HS1BP3 Gene

Pathways & Interactions for HS1BP3 Gene

SuperPathways for HS1BP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HS1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042981 regulation of apoptotic process IMP 21699750
genes like me logo Genes that share ontologies with HS1BP3: view

No data available for Pathways by source and SIGNOR curated interactions for HS1BP3 Gene

Drugs & Compounds for HS1BP3 Gene

No Compound Related Data Available

Transcripts for HS1BP3 Gene

Unigene Clusters for HS1BP3 Gene

HCLS1 binding protein 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HS1BP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: - - - - - - -

Relevant External Links for HS1BP3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HS1BP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HS1BP3 Gene

Protein differential expression in normal tissues from HIPED 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

Protein tissue co-expression partners for HS1BP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HS1BP3 Gene:


SOURCE GeneReport for Unigene cluster for HS1BP3 Gene:


Evidence on tissue expression from TISSUES for HS1BP3 Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with HS1BP3: view

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.

Orthologs for HS1BP3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HS1BP3 33 34
  • 98.72 (n)
(Canis familiaris)
Mammalia HS1BP3 33 34
  • 84.9 (n)
(Bos Taurus)
Mammalia HS1BP3 33 34
  • 83.68 (n)
(Rattus norvegicus)
Mammalia Hs1bp3 33
  • 82.82 (n)
(Mus musculus)
Mammalia Hs1bp3 33 16 34
  • 82.38 (n)
(Ornithorhynchus anatinus)
Mammalia HS1BP3 34
  • 61 (a)
(Monodelphis domestica)
Mammalia HS1BP3 34
  • 54 (a)
(Gallus gallus)
Aves HS1BP3 33 34
  • 62.1 (n)
(Anolis carolinensis)
Reptilia HS1BP3 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hs1bp3 33
  • 57.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32792 33
(Danio rerio)
Actinopterygii LOC553223 33
  • 52.22 (n)
HS1BP3 34
  • 40 (a)
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)

Evolution for HS1BP3 Gene

Gene Tree for HS1BP3 (if available)
Gene Tree for HS1BP3 (if available)

Paralogs for HS1BP3 Gene

No data available for Paralogs for HS1BP3 Gene

Variants for HS1BP3 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for HS1BP3 Gene

Variant ID Type Subtype PubMed ID
dgv56n68 CNV loss 17160897
esv3352850 CNV insertion 20981092
esv3385417 CNV insertion 20981092
nsv508828 CNV insertion 20534489
nsv517472 CNV loss 19592680
nsv527901 CNV loss 19592680
nsv581167 CNV gain 21841781

Variation tolerance for HS1BP3 Gene

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS1BP3 Gene

Disorders for HS1BP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HS1BP3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bell's palsy
  • bell palsy
essential tremor
  • tremor, hereditary essential, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HS1BP3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HS1BP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HS1BP3 Gene

Publications for HS1BP3 Gene

  1. 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
  2. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. (PMID: 19524641) Keeling BH … Farrer MJ (Neuroscience letters 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PMID: 10590261) Takemoto Y … Hashimoto Y (International immunology 1999) 2 3 58
  5. 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

Sources for HS1BP3 Gene

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