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Aliases for HCST Gene

Aliases for HCST Gene

  • Hematopoietic Cell Signal Transducer 2 3 5
  • DNAX-Activation Protein 10 2 3 4
  • Phosphoinositide-3-Kinase Adaptor Protein 2 3
  • Transmembrane Adapter Protein KAP10 3 4
  • Kinase Assoc Pro Of ~10kDa 2 3
  • Membrane Protein DAP10 3 4
  • PIK3AP 3 4
  • DAP10 3 4
  • KAP10 3 4
  • Kinase Assoc Protein 3

External Ids for HCST Gene

Previous HGNC Symbols for HCST Gene

  • PIK3AP

Previous GeneCards Identifiers for HCST Gene

  • GC00U912965
  • GC19P041085
  • GC19P036393
  • GC19P032898
  • GC19P035981
  • GC19P036002
  • GC19P036029
  • GC19P036181
  • GC19P036259
  • GC19P036426

Summaries for HCST Gene

Entrez Gene Summary for HCST Gene

  • This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for HCST Gene

HCST (Hematopoietic Cell Signal Transducer) is a Protein Coding gene. Among its related pathways are Innate Immune System and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include receptor binding and phosphatidylinositol 3-kinase binding.

UniProtKB/Swiss-Prot for HCST Gene

  • Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells.

Gene Wiki entry for HCST Gene

Additional gene information for HCST Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HCST Gene

Genomics for HCST Gene

GeneHancer (GH) Regulatory Elements for HCST Gene

Promoters and enhancers for HCST Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I035897 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.9 +1.6 1578 13 CLOCK FEZF1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZFP41 NFKBID TYROBP HCST ENSG00000280194 ZNF567 ZNF566 ZNF790 ZNF529 TMEM147-AS1 ZNF260
GH19I035927 Enhancer 1.6 FANTOM5 Ensembl ENCODE 6.6 +28.0 27953 5.2 HDGF FOXA2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF850 ZNF345 KMT2B TMEM147-AS1 ZNF792 HAUS5 ZNF567 RBM42 U2AF1L4 TYROBP
GH19I035445 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -454.4 -454440 4.7 PKNOX1 ATF1 BATF IRF4 ZNF354C ETV6 RUNX3 RXRA SMAD5 YY2 FFAR2 ZNF146 ZNF599 ZNF181 WTIP ZNF302 NFKBID TYROBP U2AF1L4 UPK1A
GH19I035435 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.8 -465.7 -465747 2.7 HDAC1 BATF IRF4 YY1 ATF7 ETV6 FOS IKZF2 RUNX3 ZNF174 ZNF599 NFKBID TMEM147-AS1 FFAR2 LIN37 KRTDAP DMKN CD22 SBSN FAM187B
GH19I035912 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.7 +11.3 11321 2.4 HDGF PKNOX1 EBF1 BATF ZNF121 ZNF302 ZNF366 ATF7 FOS IKZF2 APLP1 ZNF566 TYROBP LRFN3 ZNF529 ZNF790 ZNF260 ZNF30 ZNF461 NPHS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HCST on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HCST Gene

Genomic Locations for HCST Gene
chr19:35,902,480-35,904,377
(GRCh38/hg38)
Size:
1,898 bases
Orientation:
Plus strand
chr19:36,393,382-36,395,279
(GRCh37/hg19)

Genomic View for HCST Gene

Genes around HCST on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HCST Gene

Proteins for HCST Gene

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

    Protein Symbol:
    Q9UBK5-HCST_HUMAN
    Recommended name:
    Hematopoietic cell signal transducer
    Protein Accession:
    Q9UBK5
    Secondary Accessions:
    • Q9UBS1
    • Q9Y3Y0

    Protein attributes for HCST Gene

    Size:
    93 amino acids
    Molecular mass:
    9489 Da
    Quaternary structure:
    • Interacts with CLEC5A (By similarity). Forms an CLEC5A/TYROBP/HCST trimolecular complex depending almost solely on TYROBP (By similarity). Homodimer; Disulfide-linked. Heterohexamer composed of four subunits of HCST/DAP10 and two subunits of KLRK1. Interacts (via transmembrane domain) with KLRK1 (via transmembrane domain); the interaction is required for KLRK1 NK cell surface and induces NK cell-mediated cytotoxicity. Interacts with PIK3R1 and GRB2.
    Miscellaneous:
    • Silencing of HCST suppresses cytolytic activity of T-cells and NK cells.

    Alternative splice isoforms for HCST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HCST Gene

Post-translational modifications for HCST Gene

Other Protein References for HCST Gene

No data available for DME Specific Peptides for HCST Gene

Domains & Families for HCST Gene

Gene Families for HCST Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for HCST Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HCST Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBK5

UniProtKB/Swiss-Prot:

HCST_HUMAN :
  • Belongs to the DAP10 family.
Family:
  • Belongs to the DAP10 family.
genes like me logo Genes that share domains with HCST: view

Function for HCST Gene

Molecular function for HCST Gene

UniProtKB/Swiss-Prot Function:
Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells.
UniProtKB/Swiss-Prot Induction:
By T-cell receptor (TCR) ligation, which leads to enhanced KLRK1-HCST cell surface expression. Down-regulated by IL21/interleukin-21 in T-cells and NK cells.

Gene Ontology (GO) - Molecular Function for HCST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 15294961
GO:0005515 protein binding IPI 10426994
GO:0043548 phosphatidylinositol 3-kinase binding IDA 10426994
genes like me logo Genes that share ontologies with HCST: view
genes like me logo Genes that share phenotypes with HCST: view

Animal Models for HCST Gene

MGI Knock Outs for HCST:

Animal Model Products

miRNA for HCST Gene

miRTarBase miRNAs that target HCST

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HCST Gene

Localization for HCST Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCST Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
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 HCST gene
Compartment Confidence
plasma membrane 5
extracellular 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HCST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 10426994
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HCST: view

Pathways & Interactions for HCST Gene

genes like me logo Genes that share pathways with HCST: view

Pathways by source for HCST Gene

Gene Ontology (GO) - Biological Process for HCST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IGI 10528161
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA,IDA 10426994
GO:0050776 regulation of immune response TAS,IEA --
genes like me logo Genes that share ontologies with HCST: view

No data available for SIGNOR curated interactions for HCST Gene

Drugs & Compounds for HCST Gene

(2) Drugs for HCST Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for HCST Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HCST: view

Transcripts for HCST Gene

Unigene Clusters for HCST Gene

Hematopoietic cell signal transducer:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
SP1:
SP2:

Relevant External Links for HCST Gene

GeneLoc Exon Structure for
HCST
ECgene alternative splicing isoforms for
HCST

Expression for HCST Gene

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

mRNA differential expression in normal tissues according to GTEx for HCST Gene

This gene is overexpressed in Whole Blood (x22.8) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for HCST Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HCST Gene



Protein tissue co-expression partners for HCST Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HCST Gene:

HCST

SOURCE GeneReport for Unigene cluster for HCST Gene:

Hs.117339

mRNA Expression by UniProt/SwissProt for HCST Gene:

Q9UBK5-HCST_HUMAN
Tissue specificity: Predominantly expressed in hemopoietic cells such as NK cells, subset of T-cells and monocytes. Detected in leukocytes, spleen, and thymus.

Evidence on tissue expression from TISSUES for HCST Gene

  • Lung(4.2)
  • Pancreas(4.1)
  • Spleen(2.3)
  • Bone marrow(2.2)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with HCST: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HCST Gene

Orthologs for HCST Gene

This gene was present in the common ancestor of mammals.

Orthologs for HCST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HCST 33 34
  • 98.57 (n)
cow
(Bos Taurus)
Mammalia HCST 33 34
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Hcst 33 16 34
  • 80 (n)
rat
(Rattus norvegicus)
Mammalia Hcst 33
  • 77.78 (n)
dog
(Canis familiaris)
Mammalia HCST 34
  • 51 (a)
OneToOne
Species where no ortholog for HCST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HCST Gene

ENSEMBL:
Gene Tree for HCST (if available)
TreeFam:
Gene Tree for HCST (if available)

Paralogs for HCST Gene

No data available for Paralogs for HCST Gene

Variants for HCST Gene

Sequence variations from dbSNP and Humsavar for HCST Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs113207157 uncertain-significance, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,429(+) A/G downstream_transcript_variant
rs14715 likely-benign, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,486(+) G/A downstream_transcript_variant
rs1802029 likely-benign, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,544(+) T/G downstream_transcript_variant
rs372703196 uncertain-significance, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,564(+) C/T downstream_transcript_variant
rs374144427 uncertain-significance, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,484(+) G/A/T downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv51n68 CNV loss 17160897

Variation tolerance for HCST Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HCST Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HCST

SNP Genotyping and Copy Number Assay Products

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

Disorders for HCST Gene

Additional Disease Information for HCST

No disorders were found for HCST Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HCST Gene

Publications for HCST Gene

  1. A Structural basis for the association of DAP12 with mouse, but not human, NKG2D. (PMID: 15294961) Rosen DB … Lanier LL (Journal of immunology (Baltimore, Md. : 1950) 2004) 3 4 22 58
  2. Molecular cloning and characterization of pig immunoreceptor DAP10 and NKG2D. (PMID: 11398969) Yim D … Kim YB (Immunogenetics 2001) 3 4 22 58
  3. DAP10 and DAP12 form distinct, but functionally cooperative, receptor complexes in natural killer cells. (PMID: 11015446) Wu J … Lanier LL (The Journal of experimental medicine 2000) 3 4 22 58
  4. An activating immunoreceptor complex formed by NKG2D and DAP10. (PMID: 10426994) Wu J … Phillips JH (Science (New York, N.Y.) 1999) 2 3 4 58
  5. A critical role for DAP10 and DAP12 in CD8+ T cell-mediated tissue damage in large granular lymphocyte leukemia. (PMID: 19075187) Chen X … Wei S (Blood 2009) 3 22 58

Products for HCST Gene

Sources for HCST Gene

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