Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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. 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

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

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:
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:
    Q53T59-H1BP3_HUMAN
    Recommended name:
    HCLS1-binding protein 3
    Protein Accession:
    Q53T59
    Secondary Accessions:
    • 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).

neXtProt entry for HS1BP3 Gene

Proteomics data for HS1BP3 Gene at MOPED

Post-translational modifications for HS1BP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for HS1BP3 Gene

Domains & Families for HS1BP3 Gene

Protein Domains for HS1BP3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HS1BP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53T59

UniProtKB/Swiss-Prot:

H1BP3_HUMAN :
  • Contains 1 PX (phox homology) domain.
Domain:
  • Contains 1 PX (phox homology) domain.
genes like me logo Genes that share domains with HS1BP3: view

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

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

Animal Model Products

CRISPR Products

miRNA for HS1BP3 Gene

miRTarBase miRNAs that target HS1BP3

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HS1BP3 Gene COMPARTMENTS Subcellular localization image 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

SuperPathways for HS1BP3 Gene

No Data Available

Interacting Proteins for HS1BP3 Gene

Gene Ontology (GO) - Biological Process for HS1BP3 Gene

None

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:

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: - - - - - - -
SP6:

Relevant External Links for HS1BP3 Gene

GeneLoc Exon Structure for
HS1BP3
ECgene alternative splicing isoforms for
HS1BP3

Expression for HS1BP3 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for HS1BP3 Gene



SOURCE GeneReport for Unigene cluster for HS1BP3 Gene Hs.531785

genes like me logo Genes that share expression patterns with HS1BP3: view

Protein tissue co-expression partners for HS1BP3 Gene

- Elite partner

Primer Products

In Situ Assay Products

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.

Orthologs for HS1BP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HS1BP3 35
  • 98.72 (n)
  • 97.7 (a)
HS1BP3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HS1BP3 36
  • 51 (a)
OneToOne
HS1BP3 35
  • 83.68 (n)
  • 80.77 (a)
dog
(Canis familiaris)
Mammalia HS1BP3 35
  • 84.9 (n)
  • 84.37 (a)
HS1BP3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hs1bp3 16
Hs1bp3 36
  • 75 (a)
OneToOne
Hs1bp3 35
  • 82.38 (n)
  • 77.46 (a)
oppossum
(Monodelphis domestica)
Mammalia HS1BP3 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HS1BP3 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hs1bp3 35
  • 82.82 (n)
  • 79.02 (a)
chicken
(Gallus gallus)
Aves HS1BP3 36
  • 54 (a)
OneToOne
HS1BP3 35
  • 62.1 (n)
  • 58.53 (a)
lizard
(Anolis carolinensis)
Reptilia HS1BP3 36
  • 53 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32792 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hs1bp3 35
  • 57.35 (n)
  • 50.14 (a)
zebrafish
(Danio rerio)
Actinopterygii HS1BP3 36
  • 40 (a)
OneToOne
LOC553223 35
  • 52.22 (n)
  • 43.64 (a)
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)

Evolution for HS1BP3 Gene

ENSEMBL:
Gene Tree for HS1BP3 (if available)
TreeFam:
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 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
rs744663 -- 20,621,141(-) TGCCC(A/G)GCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv56n68 CNV Loss 17160897
nsv508828 CNV Insertion 20534489
nsv517472 CNV Loss 19592680
nsv873725 CNV Loss 21882294
nsv527901 CNV Loss 19592680
dgv4069n71 CNV Loss 21882294
esv272408 CNV Insertion 20981092

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)

Relevant External Links for HS1BP3 Gene

HapMap Linkage Disequilibrium report
HS1BP3
Human Gene Mutation Database (HGMD)
HS1BP3

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

Disorders for HS1BP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HS1BP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bell's palsy
  • bell palsy
essential tremor
  • benign essential tremor
movement disease
  • movement disorders
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HS1BP3

Genetic Association Database (GAD)
HS1BP3
Human Genome Epidemiology (HuGE) Navigator
HS1BP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HS1BP3
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 J.J. … Rooney J.P. (Neurology 2005) 2 3 23 67
  2. Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PMID: 10590261) Takemoto Y. … Hashimoto Y. (Int. Immunol. 1999) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3

Products for HS1BP3 Gene

Sources for HS1BP3 Gene

Back to Top

Content