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

Gene ID: 23075, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in lymph node (RPKM 33.7), spleen (RPKM 30.6) and 24 other tissues See more
Orthologs
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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 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)

Genotypes

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

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