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

Gene ID: 54440, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (129779949..129795201)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128098744..128113978)
105.20220307 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: 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

Bibliography

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Related articles in PubMed

  1. Approaches to define antigen receptor-induced serine kinase signal transduction pathways. Astoul E, et al. J Biol Chem, 2003 Mar 14. PMID 12515807
  2. 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
  3. 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
  4. 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
  5. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153

See all (11) 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)

Genotypes

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
  
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_2023_10

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

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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