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    SASH3 SAM and SH3 domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 54440, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SASH3provided by HGNC
    Official Full Name
    SAM and SH3 domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:15975
    See related
    Ensembl:ENSG00000122122 MIM:300441; AllianceGenome:HGNC:15975
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLY; 753P9; HACS2; CXorf9; IMD102; SH3D6C
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 60.1), spleen (RPKM 41.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SASH3 in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (129779949..129795201)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128098744..128113978)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128913925..128929177)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:128851647-128852238 Neighboring gene uncharacterized LOC124905214 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:128852239-128852830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29919 Neighboring gene X-prolyl aminopeptidase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128889861-128890360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29921 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:128902381-128902881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29924 Neighboring gene uncharacterized LOC124905215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29930 Neighboring gene zinc finger DHHC-type palmitoyltransferase 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:128983483-128984298 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:128984299-128985112 Neighboring gene spalt like transcription factor 4 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3. Novak W, et al. Br J Haematol, 2023 Nov. PMID 37646304
    2. Approaches to define antigen receptor-induced serine kinase signal transduction pathways. Astoul E, et al. J Biol Chem, 2003 Mar 14. PMID 12515807
    3. SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. Delmonte OM, et al. Blood, 2021 Sep 23. PMID 33876203, Free PMC Article
    4. Molecular cloning and characterization of a novel SH3 protein (SLY) preferentially expressed in lymphoid cells. Beer S, et al. Biochim Biophys Acta, 2001 Jul 30. PMID 11470164
    5. Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells. Hay JC, et al. Cell, 1997 Apr 4. PMID 9094723

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
      Title: Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
    2. SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
      Title: SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 102
    MedGen: C5676886 OMIM: 301082 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of B cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of adaptive immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of immunoglobulin production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of interleukin-10 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-2 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-4 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of type II interferon production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SAM and SH3 domain-containing protein 3
    Names
    SH3 protein expressed in lymphocytes homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013260.1 RefSeqGene

      Range
      5034..20286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018990.4 → NP_061863.1  SAM and SH3 domain-containing protein 3

      See identical proteins and their annotated locations for NP_061863.1

      Status: REVIEWED

      Source sequence(s)
      BC051881, CR975883
      Consensus CDS
      CCDS14614.1
      UniProtKB/Swiss-Prot
      A6NCH1, A8K7K8, O75995, Q5JZ38
      UniProtKB/TrEMBL
      B2RBY7
      Related
      ENSP00000349359.3, ENST00000356892.4
      Conserved Domains (3) summary
      cd11968
      Location:176 → 231
      SH3_SASH3; Src homology 3 domain of Sam And SH3 Domain Containing Protein 3
      pfam12485
      Location:21 → 174
      SLY; Lymphocyte signaling adaptor protein
      cl15755
      Location:250 → 317
      SAM_superfamily; SAM (Sterile alpha motif )

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      129779949..129795201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724763.1 → XP_006724826.1  SAM and SH3 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B4DKQ0, E9PDP4
      Conserved Domains (4) summary
      cd09560
      Location:300 → 367
      SAM_SASH3; SAM domain of SASH3 subfamily
      smart00454
      Location:302 → 366
      SAM; Sterile alpha motif
      pfam12485
      Location:21 → 174
      SLY; Lymphocyte signaling adaptor protein
      cl17036
      Location:176 → 281
      SH3; Src Homology 3 domain superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      128098744..128113978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327262.1 → XP_054183237.1  SAM and SH3 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B4DKQ0, E9PDP4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75995.2 GenPept UniProtKB/Swiss-Prot:O75995

    Gene LinkOut

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