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    SH2D3A SH2 domain containing 3A [ Homo sapiens (human) ]

    Gene ID: 10045, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SH2D3Aprovided by HGNC
    Official Full Name
    SH2 domain containing 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:16885
    See related
    Ensembl:ENSG00000125731 MIM:604721; AllianceGenome:HGNC:16885
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NSP1
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity and phosphotyrosine residue binding activity. Predicted to be involved in JNK cascade. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in stomach (RPKM 5.1), colon (RPKM 4.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH2D3A in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6752160..6767435, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6741555..6756831, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6752171..6767446, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:6736926-6737087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6738248-6739016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9964 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:6739785-6740552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6742783-6743702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:6745754-6746254 Neighboring gene G protein-coupled receptor 108 Neighboring gene uncharacterized LOC124904623 Neighboring gene microRNA 6791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9967 Neighboring gene thyroid hormone receptor interactor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6760841-6761341 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6764936-6765836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6772949-6773449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13864 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:6782716-6782888 Neighboring gene MPRA-validated peak3307 silencer Neighboring gene vav guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6801723-6802243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13866 Neighboring gene Sharpr-MPRA regulatory region 13171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13867 Neighboring gene MPRA-validated peak3310 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13868 Neighboring gene uncharacterized LOC105372256 Neighboring gene adhesion G protein-coupled receptor E1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13869

    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. Nsp1 proteins of human coronaviruses HCoV-OC43 and SARS-CoV2 inhibit stress granule formation. Dolliver SM, et al. PLoS Pathog, 2022 Dec. PMID 36534661, Free PMC Article
    2. In vitro reconstitution of SARS-CoV-2 Nsp1-induced mRNA cleavage reveals the key roles of the N-terminal domain of Nsp1 and the RRM domain of eIF3g. Abaeva IS, et al. Genes Dev, 2023 Sep 1. PMID 37821106, Free PMC Article
    3. Structure of the C-terminal FG-nucleoporin binding domain of Tap/NXF1. Grant RP, et al. Nat Struct Biol, 2002 Apr. PMID 11875519
    4. Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling. Vervoort VS, et al. Gene, 2007 Apr 15. PMID 17270363, Free PMC Article
    5. AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology. Near RI, et al. J Cell Physiol, 2007 Sep. PMID 17427198, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In vitro reconstitution of SARS-CoV-2 Nsp1-induced mRNA cleavage reveals the key roles of the N-terminal domain of Nsp1 and the RRM domain of eIF3g.
      Title: In vitro reconstitution of SARS-CoV-2 Nsp1-induced mRNA cleavage reveals the key roles of the N-terminal domain of Nsp1 and the RRM domain of eIF3g.
    2. Nsp1 proteins of human coronaviruses HCoV-OC43 and SARS-CoV2 inhibit stress granule formation.
      Title: Nsp1 proteins of human coronaviruses HCoV-OC43 and SARS-CoV2 inhibit stress granule formation.
    3. NSP1 overexpression did not induce anti-estrogen resistance in breast tumor cell lines.
      Title: AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.
    4. NSP1 and BCAR3 are more highly expressed than SH2D3C (SHEP1) in breast cancer cells, and the expression patterns suggest differential roles for the three genes during breast cancer progression.
      Title: Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling.
    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

    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

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphotyrosine residue binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SH2 domain-containing protein 3A
    Names
    novel SH2-containing protein 1

    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.

    mRNA and Protein(s)

    1. NM_001386583.1 → NP_001373512.1  SH2 domain-containing protein 3A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:230 → 381
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    2. NM_001386584.1 → NP_001373513.1  SH2 domain-containing protein 3A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:308 → 457
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    3. NM_001386585.1 → NP_001373514.1  SH2 domain-containing protein 3A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:308 → 457
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    4. NM_001386586.1 → NP_001373515.1  SH2 domain-containing protein 3A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:265 → 338
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    5. NM_001386587.1 → NP_001373516.1  SH2 domain-containing protein 3A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:264 → 415
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    6. NM_001386588.1 → NP_001373517.1  SH2 domain-containing protein 3A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (1) summary
      cl02485
      Location:187 → 336
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    7. NM_001386589.1 → NP_001373518.1  SH2 domain-containing protein 3A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (1) summary
      cl02485
      Location:110 → 261
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    8. NM_005490.3 → NP_005481.2  SH2 domain-containing protein 3A isoform 1

      See identical proteins and their annotated locations for NP_005481.2

      Status: VALIDATED

      Source sequence(s)
      BC006281
      Consensus CDS
      CCDS12173.1
      UniProtKB/Swiss-Prot
      A8K9R6, B4DRS7, Q9BRG2, Q9Y2X4
      UniProtKB/TrEMBL
      A8K2M8
      Related
      ENSP00000245908.5, ENST00000245908.11
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:309 → 458
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      6752160..6767435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438016.1 → XP_047293972.1  SH2 domain-containing protein 3A isoform X8

    2. XM_047438014.1 → XP_047293970.1  SH2 domain-containing protein 3A isoform X5

      UniProtKB/TrEMBL
      A8K2M8

    3. XM_011527609.3 → XP_011525911.1  SH2 domain-containing protein 3A isoform X2

      See identical proteins and their annotated locations for XP_011525911.1

      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cl02485
      Location:214 → 392
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cl15255
      Location:1 → 48
      SH2; Src homology 2 (SH2) domain

    4. XM_047438015.1 → XP_047293971.1  SH2 domain-containing protein 3A isoform X7

    5. XM_005259472.3 → XP_005259529.1  SH2 domain-containing protein 3A isoform X4

      See identical proteins and their annotated locations for XP_005259529.1

      UniProtKB/Swiss-Prot
      Q9BRG2
      Related
      ENSP00000393303.2, ENST00000437152.7

    6. XM_006722602.2 → XP_006722665.1  SH2 domain-containing protein 3A isoform X3

      Conserved Domains (1) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

    7. XM_005259467.2 → XP_005259524.1  SH2 domain-containing protein 3A isoform X1

      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cd10337
      Location:8 → 143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:309 → 487
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    8. XM_011527608.3 → XP_011525910.1  SH2 domain-containing protein 3A isoform X2

      See identical proteins and their annotated locations for XP_011525910.1

      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cl02485
      Location:214 → 392
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cl15255
      Location:1 → 48
      SH2; Src homology 2 (SH2) domain

    9. XM_017026123.2 → XP_016881612.1  SH2 domain-containing protein 3A isoform X6

      Related
      ENST00000595681.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      6741555..6756831 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319478.1 → XP_054175453.1  SH2 domain-containing protein 3A isoform X8

    2. XM_054319475.1 → XP_054175450.1  SH2 domain-containing protein 3A isoform X5

      UniProtKB/TrEMBL
      A8K2M8

    3. XM_054319472.1 → XP_054175447.1  SH2 domain-containing protein 3A isoform X2

      UniProtKB/TrEMBL
      A8K2M8

    4. XM_054319477.1 → XP_054175452.1  SH2 domain-containing protein 3A isoform X7

    5. XM_054319474.1 → XP_054175449.1  SH2 domain-containing protein 3A isoform X4

    6. XM_054319473.1 → XP_054175448.1  SH2 domain-containing protein 3A isoform X3

    7. XM_054319470.1 → XP_054175445.1  SH2 domain-containing protein 3A isoform X1

      UniProtKB/TrEMBL
      A8K2M8

    8. XM_054319471.1 → XP_054175446.1  SH2 domain-containing protein 3A isoform X2

      UniProtKB/TrEMBL
      A8K2M8

    9. XM_054319476.1 → XP_054175451.1  SH2 domain-containing protein 3A isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRG2.1 GenPept UniProtKB/Swiss-Prot:Q9BRG2

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