U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 54440, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_018990.4NP_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:176231
      SH3_SASH3; Src homology 3 domain of Sam And SH3 Domain Containing Protein 3
      pfam12485
      Location:21174
      SLY; Lymphocyte signaling adaptor protein
      cl15755
      Location:250317
      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_006724763.1XP_006724826.1  SAM and SH3 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B4DKQ0, E9PDP4
      Conserved Domains (4) summary
      cd09560
      Location:300367
      SAM_SASH3; SAM domain of SASH3 subfamily
      smart00454
      Location:302366
      SAM; Sterile alpha motif
      pfam12485
      Location:21174
      SLY; Lymphocyte signaling adaptor protein
      cl17036
      Location:176281
      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_054327262.1XP_054183237.1  SAM and SH3 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B4DKQ0, E9PDP4