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

    Gene ID: 10045, updated on 6-Jun-2024

    Summary

    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 positive regulation of peptidyl-serine phosphorylation. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in stomach (RPKM 5.1), colon (RPKM 4.9) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH2D3A in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6752160..6767435, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6741555..6756831, complement)
    105.20220307 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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 positive regulation of peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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.

    mRNA and Protein(s)

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

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:230381
      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_001386584.1NP_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:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:308457
      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_001386585.1NP_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:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:308457
      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_001386586.1NP_001373515.1  SH2 domain-containing protein 3A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:265338
      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_001386587.1NP_001373516.1  SH2 domain-containing protein 3A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (2) summary
      cd10337
      Location:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:264415
      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_001386588.1NP_001373517.1  SH2 domain-containing protein 3A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (1) summary
      cl02485
      Location:187336
      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_001386589.1NP_001373518.1  SH2 domain-containing protein 3A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008760, AC020954
      Conserved Domains (1) summary
      cl02485
      Location:110261
      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_005490.3NP_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:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:309458
      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_2023_10

    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_047438016.1XP_047293972.1  SH2 domain-containing protein 3A isoform X8

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

      UniProtKB/TrEMBL
      A8K2M8
    3. XM_011527609.3XP_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:214392
      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:148
      SH2; Src homology 2 (SH2) domain
    4. XM_047438015.1XP_047293971.1  SH2 domain-containing protein 3A isoform X7

    5. XM_005259472.3XP_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_006722602.2XP_006722665.1  SH2 domain-containing protein 3A isoform X3

      Conserved Domains (1) summary
      cd10337
      Location:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    7. XM_005259467.2XP_005259524.1  SH2 domain-containing protein 3A isoform X1

      UniProtKB/TrEMBL
      A8K2M8
      Conserved Domains (2) summary
      cd10337
      Location:8143
      SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
      cl02485
      Location:309487
      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_011527608.3XP_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:214392
      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:148
      SH2; Src homology 2 (SH2) domain
    9. XM_017026123.2XP_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_054319478.1XP_054175453.1  SH2 domain-containing protein 3A isoform X8

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

      UniProtKB/TrEMBL
      A8K2M8
    3. XM_054319472.1XP_054175447.1  SH2 domain-containing protein 3A isoform X2

      UniProtKB/TrEMBL
      A8K2M8
    4. XM_054319477.1XP_054175452.1  SH2 domain-containing protein 3A isoform X7

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

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

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

      UniProtKB/TrEMBL
      A8K2M8
    8. XM_054319471.1XP_054175446.1  SH2 domain-containing protein 3A isoform X2

      UniProtKB/TrEMBL
      A8K2M8
    9. XM_054319476.1XP_054175451.1  SH2 domain-containing protein 3A isoform X6