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

Gene ID: 10045, updated on 3-Apr-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 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
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Genomic context

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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

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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. Structure of the C-terminal FG-nucleoporin binding domain of Tap/NXF1. Grant RP, et al. Nat Struct Biol, 2002 Apr. PMID 11875519
  3. 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
  4. 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
  5. NSP1 defines a novel family of adaptor proteins linking integrin and tyrosine kinase receptors to the c-Jun N-terminal kinase/stress-activated protein kinase signaling pathway. Lu Y, et al. J Biol Chem, 1999 Apr 9. PMID 10187783

See all (21) 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)

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

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

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

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

  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

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

  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

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

  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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