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    SWAP70 switching B cell complex subunit SWAP70 [ Homo sapiens (human) ]

    Gene ID: 23075, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SWAP70provided by HGNC
    Official Full Name
    switching B cell complex subunit SWAP70provided by HGNC
    Primary source
    HGNC:HGNC:17070
    See related
    Ensembl:ENSG00000133789 MIM:604762; AllianceGenome:HGNC:17070
    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
    HSPC321; SWAP-70
    Summary
    Enables cadherin binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. Is active in postsynapse. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 33.7), spleen (RPKM 30.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SWAP70 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (9664077..9752993)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (9748230..9837705)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (9685624..9774540)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4420 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:9697353-9697887 Neighboring gene NANOG hESC enhancer GRCh37_chr11:9700059-9700598 Neighboring gene ribosomal protein L21 pseudogene 97 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9733231-9733731 Neighboring gene RN7SK pseudogene 50 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:9740773-9741273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3138 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:9785216-9785716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9786625-9787448 Neighboring gene uncharacterized LOC105369149 Neighboring gene long intergenic non-protein coding RNA 2709 Neighboring gene SBF2 antisense RNA 1 Neighboring gene SET binding factor 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. SWAP70 undergoes dynamic conformational regulation at the leading edge of migrating cells. Kriplani N, et al. FEBS Lett, 2019 Feb. PMID 30636036
    2. Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency. Rapalus L, et al. Clin Immunol, 2001 Dec. PMID 11726218
    3. SWAP-70 identifies a transitional subset of actin filaments in motile cells. Hilpelä P, et al. Mol Biol Cell, 2003 Aug. PMID 12925760, Free PMC Article
    4. Direct binding of SWAP-70 to non-muscle actin is required for membrane ruffling. Ihara S, et al. J Cell Sci, 2006 Feb 1. PMID 16418221
    5. Diagnostic surface expression of SWAP-70 on HIV-1 infected T cells. Kimbara N, et al. Microbiol Immunol, 2006. PMID 16547421

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The F-actin bundler SWAP-70 promotes tumor metastasis.
      Title: The F-actin bundler SWAP-70 promotes tumor metastasis.
    2. SWAP70 Overexpression Protects Against Pathological Cardiac Hypertrophy in a TAK1-Dependent Manner.
      Title: SWAP70 Overexpression Protects Against Pathological Cardiac Hypertrophy in a TAK1-Dependent Manner.
    3. Mechanism of control of F-actin cortex architecture by SWAP-70.
      Title: Mechanism of control of F-actin cortex architecture by SWAP-70.
    4. Data support an essential and specific role for SWAP70 in tethering and stabilizing F-actin to the phagosomal surface in a wide range of phagocytes.
      Title: SWAP70 is a universal GEF-like adaptor for tethering actin to phagosomes.
    5. Results show that SWAP70 regulates lamellipodia. SWAP70 undergoes conformational regulation at the leading edge of migratory glioma cell line.
      Title: SWAP70 undergoes dynamic conformational regulation at the leading edge of migrating cells.
    6. Expression of switch-associated protein 70 is associated with lymphocyte activation and reduced disability in multiple sclerosis.
      Title: Expression of switch-associated protein 70 is associated with lymphocyte activation and reduced disability in multiple sclerosis.
    7. These data show a key role for SWAP70 as a scaffold for tethering the peripheral actin cage to phagosomes.
      Title: SWAP70 Organizes the Actin Cytoskeleton and Is Essential for Phagocytosis.
    8. SWAP70 appears to act as a molecular intermediate between vGPCR and endothelial activation.
      Title: The guanine exchange factor SWAP70 mediates vGPCR-induced endothelial plasticity.
    9. SWAP70 may be a target of miR-145, and it might have a potential oncogenic function.
      Title: SWAP70, actin-binding protein, function as an oncogene targeting tumor-suppressive miR-145 in prostate cancer.
    10. Detection of SWAP70 antibodies during the attack period might suggest that SWAP70 is involved in Multiple Sclerosis relapse pathogenesis
      Title: Switch-associated protein 70 antibodies in multiple sclerosis: relationship between increased serum levels and clinical relapse.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human SWAP switching B-cell complex 70kDa subunit (SWAP70) at amino acid residues 566-567 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39540, KIAA0640

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in isotype switching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of actin filament depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell-cell adhesion mediated by integrin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mast cell chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    switch-associated protein 70
    Names
    SWAP switching B-cell complex 70kDa subunit
    SWAP switching B-cell complex subunit 70

    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_001297714.2 → NP_001284643.1  switch-associated protein 70 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC026250, AI693686, AK096859, BC000616
      Consensus CDS
      CCDS73257.1
      UniProtKB/TrEMBL
      B3KUB9, E7EMB1
      Related
      ENSP00000399056.2, ENST00000447399.6
      Conserved Domains (2) summary
      cd13273
      Location:146 → 255
      PH_SWAP-70; Switch-associated protein-70 Pleckstrin homology (PH) domain
      pfam00169
      Location:153 → 248
      PH; PH domain

    2. NM_015055.4 → NP_055870.2  switch-associated protein 70 isoform 1

      See identical proteins and their annotated locations for NP_055870.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC026250, AI693686, AK096859, BC000616
      Consensus CDS
      CCDS31426.1
      UniProtKB/Swiss-Prot
      D3DQV1, O75135, Q7LCY6, Q9P061, Q9P0Z8, Q9UH65
      UniProtKB/TrEMBL
      B3KUB9
      Related
      ENSP00000315630.6, ENST00000318950.11
      Conserved Domains (2) summary
      cd13273
      Location:204 → 313
      PH_SWAP-70; Switch-associated protein-70 Pleckstrin homology (PH) domain
      cl25732
      Location:332 → 549
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      9664077..9752993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      9748230..9837705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UH65.1 GenPept UniProtKB/Swiss-Prot:Q9UH65

    Gene LinkOut

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

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