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Aliases for SASH3 Gene

Aliases for SASH3 Gene

  • SAM And SH3 Domain Containing 3 2 3 5
  • SH3 Protein Expressed In Lymphocytes Homolog 3 4
  • CXorf9 3 4
  • SLY 3 4
  • SAM And SH3 Domain-Containing Protein 3 3
  • Chromosome X Open Reading Frame 9 2
  • SH3D6C 3
  • 753P9 3
  • HACS2 3

External Ids for SASH3 Gene

Previous HGNC Symbols for SASH3 Gene

  • CXorf9

Previous GeneCards Identifiers for SASH3 Gene

  • GC0XP128742
  • GC0XP128913
  • GC0XP118315

Summaries for SASH3 Gene

Entrez Gene Summary for SASH3 Gene

  • The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]

GeneCards Summary for SASH3 Gene

SASH3 (SAM And SH3 Domain Containing 3) is a Protein Coding gene. An important paralog of this gene is SASH1.

UniProtKB/Swiss-Prot for SASH3 Gene

  • May function as a signaling adapter protein in lymphocytes.

Additional gene information for SASH3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SASH3 Gene

Genomics for SASH3 Gene

GeneHancer (GH) Regulatory Elements for SASH3 Gene

Promoters and enhancers for SASH3 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
GH0XI129770 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.6 -0.2 -158 17.9 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 IRF4 YY1 TCF12 ZNF766 GATA2 SASH3 ZNF280C BCORL1 XPNPEP2 UTP14A SLC25A14 OCRL ELF4 ENSG00000240143 ZDHHC9
GH0XI129757 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -20.8 -20758 3.6 BCOR CTCF ZMYM3 BATF RAD21 CTBP1 ZNF766 ZNF316 POLR2A ZNF366 SASH3 ELF4 ENSG00000240143 XPNPEP2 GC0XP129460
GH0XI130080 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.7 +304.5 304516 7.9 HDGF PKNOX1 ATF1 IRF4 ZNF766 GLIS2 ZNF143 ATF7 RUNX3 NCOA1 ELF4 BCORL1 SASH3 GC0XP130039
GH0XI130117 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +340.0 339952 4.6 ATF1 SIN3A ZNF2 ZBTB7B POLR2B GLIS2 ARID2 ZNF143 FOS ATF7 ZNF280C AIFM1 RAB33A ELF4 RBMX2 BCORL1 SASH3
GH0XI129832 Enhancer 0.7 dbSUPER 4.5 +55.7 55684 5.6 SOX6 CEBPB MAFG EP300 MITF FOSL1 ZNF316 IKZF1 SCRT2 CREB1 SASH3 ZDHHC9 ENSG00000275070
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SASH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SASH3 gene promoter:

Genomic Locations for SASH3 Gene

Genomic Locations for SASH3 Gene
chrX:129,779,916-129,795,201
(GRCh38/hg38)
Size:
15,286 bases
Orientation:
Plus strand
chrX:128,913,892-128,929,177
(GRCh37/hg19)

Genomic View for SASH3 Gene

Genes around SASH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SASH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SASH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SASH3 Gene

Proteins for SASH3 Gene

  • Protein details for SASH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75995-SASH3_HUMAN
    Recommended name:
    SAM and SH3 domain-containing protein 3
    Protein Accession:
    O75995
    Secondary Accessions:
    • A6NCH1
    • A8K7K8
    • Q5JZ38

    Protein attributes for SASH3 Gene

    Size:
    380 amino acids
    Molecular mass:
    41595 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SASH3 Gene

Post-translational modifications for SASH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SASH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SASH3 Gene

Domains & Families for SASH3 Gene

Gene Families for SASH3 Gene

Suggested Antigen Peptide Sequences for SASH3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SASH3: view

No data available for UniProtKB/Swiss-Prot for SASH3 Gene

Function for SASH3 Gene

Molecular function for SASH3 Gene

UniProtKB/Swiss-Prot Function:
May function as a signaling adapter protein in lymphocytes.
genes like me logo Genes that share phenotypes with SASH3: view

Animal Models for SASH3 Gene

MGI Knock Outs for SASH3:

Animal Model Products

CRISPR Products

miRNA for SASH3 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SASH3 Gene

Localization for SASH3 Gene

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 SASH3 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SASH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SASH3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SASH3 Gene

Pathways & Interactions for SASH3 Gene

SuperPathways for SASH3 Gene

No Data Available

Interacting Proteins for SASH3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349359%0d%0a9606.ENSP00000365380%0d%0a
Selected Interacting proteins: O75995-SASH3_HUMAN ENSP00000349359 for SASH3 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SASH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002639 positive regulation of immunoglobulin production IEA --
GO:0002726 positive regulation of T cell cytokine production IEA --
GO:0002821 positive regulation of adaptive immune response IEA --
GO:0030890 positive regulation of B cell proliferation IEA --
GO:0032729 positive regulation of interferon-gamma production IEA --
genes like me logo Genes that share ontologies with SASH3: view

No data available for Pathways by source and SIGNOR curated interactions for SASH3 Gene

Drugs & Compounds for SASH3 Gene

No Compound Related Data Available

Transcripts for SASH3 Gene

mRNA/cDNA for SASH3 Gene

Unigene Clusters for SASH3 Gene

SAM and SH3 domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SASH3 Gene

No ASD Table

Relevant External Links for SASH3 Gene

GeneLoc Exon Structure for
SASH3
ECgene alternative splicing isoforms for
SASH3

Expression for SASH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SASH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SASH3 Gene

This gene is overexpressed in Whole Blood (x23.0) and Spleen (x6.3).

Protein differential expression in normal tissues from HIPED for SASH3 Gene

This gene is overexpressed in Lymph node (19.0), CD8 Tcells (10.3), Blymphocyte (9.6), CD4 Tcells (9.3), NK cells (6.3), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SASH3 Gene



Protein tissue co-expression partners for SASH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SASH3 Gene:

SASH3

SOURCE GeneReport for Unigene cluster for SASH3 Gene:

Hs.61469

Evidence on tissue expression from TISSUES for SASH3 Gene

  • Spleen(4.3)
genes like me logo Genes that share expression patterns with SASH3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SASH3 Gene

Orthologs for SASH3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SASH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SASH3 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia SASH3 33 34
  • 92.19 (n)
cow
(Bos Taurus)
Mammalia SASH3 33 34
  • 90.63 (n)
mouse
(Mus musculus)
Mammalia Sash3 33 16 34
  • 89.39 (n)
rat
(Rattus norvegicus)
Mammalia Sash3 33
  • 89.3 (n)
oppossum
(Monodelphis domestica)
Mammalia SASH3 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SASH3 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SASH3 33 34
  • 71.86 (n)
lizard
(Anolis carolinensis)
Reptilia SASH3 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sash3 33
  • 62.86 (n)
Str.12240 33
zebrafish
(Danio rerio)
Actinopterygii LOC561954 33
  • 56.82 (n)
BX004980.1 34
  • 47 (a)
OneToOne
Species where no ortholog for SASH3 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)
  • 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 SASH3 Gene

ENSEMBL:
Gene Tree for SASH3 (if available)
TreeFam:
Gene Tree for SASH3 (if available)

Paralogs for SASH3 Gene

Paralogs for SASH3 Gene

(2) SIMAP similar genes for SASH3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SASH3: view

Variants for SASH3 Gene

Sequence variations from dbSNP and Humsavar for SASH3 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057518320 uncertain-significance, not specified 129,793,097(+) GCCAAGCTGC/GC coding_sequence_variant, frameshift
rs1000173066 -- 129,791,494(+) C/T intron_variant
rs1000193463 -- 129,778,439(+) G/C upstream_transcript_variant
rs1000476432 -- 129,794,441(+) A/C 3_prime_UTR_variant
rs1000732400 -- 129,785,961(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SASH3 Gene

Variant ID Type Subtype PubMed ID
esv2758893 CNV gain+loss 17122850
esv3574554 CNV loss 25503493
nsv526197 CNV gain 19592680
nsv528290 CNV gain 19592680
nsv818036 CNV loss 17921354

Variation tolerance for SASH3 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SASH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SASH3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SASH3 Gene

Disorders for SASH3 Gene

Additional Disease Information for SASH3

No disorders were found for SASH3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SASH3 Gene

Publications for SASH3 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Approaches to define antigen receptor-induced serine kinase signal transduction pathways. (PMID: 12515807) Astoul E … Cantrell DA (The Journal of biological chemistry 2003) 3 4 58
  3. Molecular cloning and characterization of a novel SH3 protein (SLY) preferentially expressed in lymphoid cells. (PMID: 11470164) Beer S … Holzmann B (Biochimica et biophysica acta 2001) 2 3 58
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for SASH3 Gene

Sources for SASH3 Gene

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