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ARPC1B actin related protein 2/3 complex subunit 1B [ Homo sapiens (human) ]

Gene ID: 10095, updated on 7-Apr-2024

Summary

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Official Symbol
ARPC1Bprovided by HGNC
Official Full Name
actin related protein 2/3 complex subunit 1Bprovided by HGNC
Primary source
HGNC:HGNC:704
See related
Ensembl:ENSG00000130429 MIM:604223; AllianceGenome:HGNC:704
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARC41; IMD71; PLTEID; p40-ARC; p41-ARC
Summary
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
Expression
Broad expression in spleen (RPKM 111.2), appendix (RPKM 92.6) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
7q22.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99374259..99394816)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100610955..100633717)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98972353..98992439)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene myosin heavy chain 16 (pseudogene) Neighboring gene uncharacterized LOC105375421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98923087-98923646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18405 Neighboring gene actin related protein 2/3 complex subunit 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98955605-98956105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98957299-98957799 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98962524-98962729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98966657-98967570 Neighboring gene Sharpr-MPRA regulatory region 4482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98970933-98971433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98991459-98992130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26314 Neighboring gene PDGFA associated protein 1 Neighboring gene uncharacterized LOC124901707 Neighboring gene microRNA 12119 Neighboring gene BUD31 homolog

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. Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait? Chiriaco M, et al. Front Immunol, 2022. PMID 35967303, Free PMC Article
  2. ARPC1B Is Associated with Lethal Prostate Cancer and Its Inhibition Decreases Cell Invasion and Migration In Vitro. Gamallat Y, et al. Int J Mol Sci, 2022 Jan 27. PMID 35163398, Free PMC Article
  3. Dual role of ARPC1B in regulating the network between tumor-associated macrophages and tumor cells in glioblastoma. Liu T, et al. Oncoimmunology, 2022. PMID 35111386, Free PMC Article
  4. Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity. Randzavola LO, et al. J Clin Invest, 2019 Dec 2. PMID 31710310, Free PMC Article
  5. Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls. Kopitar AN, et al. Front Immunol, 2019. PMID 31379835, Free PMC Article

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants.
    Title: Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants.
  2. Neutrophil motility is regulated by both cell intrinsic and endothelial cell ARPC1B.
    Title: Neutrophil motility is regulated by both cell intrinsic and endothelial cell ARPC1B.
  3. ARPC1B promotes mesenchymal phenotype maintenance and radiotherapy resistance by blocking TRIM21-mediated degradation of IFI16 and HuR in glioma stem cells.
    Title: ARPC1B promotes mesenchymal phenotype maintenance and radiotherapy resistance by blocking TRIM21-mediated degradation of IFI16 and HuR in glioma stem cells.
  4. Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
    Title: Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
  5. Dual role of ARPC1B in regulating the network between tumor-associated macrophages and tumor cells in glioblastoma.
    Title: Dual role of ARPC1B in regulating the network between tumor-associated macrophages and tumor cells in glioblastoma.
  6. ARPC1B Is Associated with Lethal Prostate Cancer and Its Inhibition Decreases Cell Invasion and Migration In Vitro.
    Title: ARPC1B Is Associated with Lethal Prostate Cancer and Its Inhibition Decreases Cell Invasion and Migration In Vitro.
  7. DHX36, BAX, and ARPC1B May Be Critical for the Diagnosis and Treatment of Tuberculosis.
    Title: DHX36, BAX, and ARPC1B May Be Critical for the Diagnosis and Treatment of Tuberculosis.
  8. Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.
    Title: Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.
  9. mutations in ARPC1B will trigger progressive CTL activation-induced immunodeficiency and provides mechanistic insights into the immune dysregulation observed in this disease.
    Title: Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity.
  10. Inherited ARPC1B deficiency alters T-cell cytoskeletal dynamics and functions, contributing to the clinical features of combined immunodeficiency.
    Title: T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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

Associated conditions

Description Tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
MedGen: C4540232 OMIM: 617718 GeneReviews: Not available
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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

Pathways from PubChem

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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
contributes_to actin filament binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Arp2/3 complex-mediated actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Arp2/3 complex-mediated actin nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to estrogen IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Arp2/3 protein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Arp2/3 protein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of tubulobulbar complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
actin-related protein 2/3 complex subunit 1B
Names
ARP2/3 protein complex subunit p41
actin related protein 2/3 complex, subunit 1B, 41kDa
arp2/3 complex 41 kDa subunit

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.

Genomic

  1. NG_055676.1 RefSeqGene

    Range
    5056..25142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1188

mRNA and Protein(s)

  1. NM_005720.4 → NP_005711.1  actin-related protein 2/3 complex subunit 1B

    See identical proteins and their annotated locations for NP_005711.1

    Status: REVIEWED

    Source sequence(s)
    AU143525, BC002562, CB105406
    Consensus CDS
    CCDS5661.1
    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275, C9JEY1
    Related
    ENSP00000496599.1, ENST00000646101.2
    Conserved Domains (2) summary
    sd00039
    Location:11 → 50
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:45 → 264
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99374259..99394816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446628.2 → XP_024302396.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275, C9JEY1
    Related
    ENSP00000398620.2, ENST00000414376.6
    Conserved Domains (2) summary
    sd00039
    Location:11 → 50
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:45 → 264
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100610955..100633717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356981.1 → XP_054212956.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275

  2. XM_054356979.1 → XP_054212954.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275

  3. XM_054356980.1 → XP_054212955.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275

  4. XM_054356983.1 → XP_054212958.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275

  5. XM_054356982.1 → XP_054212957.1  actin-related protein 2/3 complex subunit 1B isoform X1

    UniProtKB/Swiss-Prot
    O15143, Q9BU00
    UniProtKB/TrEMBL
    A4D275
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15143.3 GenPept UniProtKB/Swiss-Prot:O15143

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