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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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    See ARPC1B in Genome Data Viewer
    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
    		Compare labs

    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

    Gene LinkOut

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

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