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

Summary

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 actin polymerization or depolymerization. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 11p15.4

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (9664077..9752993)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (9748230..9837705)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (9685624..9774540)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Mechanism of control of F-actin cortex architecture by SWAP-70.
Title: Mechanism of control of F-actin cortex architecture by SWAP-70.
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.
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.
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.
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.
SWAP70 appears to act as a molecular intermediate between vGPCR and endothelial activation.
Title: The guanine exchange factor SWAP70 mediates vGPCR-induced endothelial plasticity.
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.
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.
The unwinding of the C-terminal alpha-helix could regulate the functions of SWAP-70 at the plasma membrane surface.
Title: Membrane-induced alteration of the secondary structure in the SWAP-70 pleckstrin homology domain.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

D8S2279 (e-PCR)
- UniSTS:473907

RH81040 (e-PCR)
- UniSTS:93055

RH102840 (e-PCR)
- UniSTS:97174

G17605 (e-PCR)
- UniSTS:28341

RH103132 (e-PCR)
- UniSTS:97466

D11S3808 (e-PCR)
- UniSTS:153038

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 more info	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 negative regulation of peptidyl-serine dephosphorylation	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

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)

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
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