ARPC5 actin related protein 2/3 complex subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARPC5provided by HGNC
Official Full Name: actin related protein 2/3 complex subunit 5provided by HGNC
Primary source: HGNC:HGNC:708
See related: Ensembl:ENSG00000162704 MIM:604227; AllianceGenome:HGNC:708
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: ARC16; IMD113; p16-Arc; dJ127C7.3
Summary: This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in lymph node (RPKM 104.2), appendix (RPKM 91.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (183620846..183635783, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (182980128..182995065, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (183589981..183604918, complement)

Chromosome 1 - NC_000001.11 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?

ARPC5 acts as a potential prognostic biomarker that is associated with cell proliferation, migration and immune infiltrate in gliomas.
Title: ARPC5 acts as a potential prognostic biomarker that is associated with cell proliferation, migration and immune infiltrate in gliomas.
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Title: ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Title: Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
ARPC5 is transcriptionally activated by KLF4, and promotes cell migration and invasion in prostate cancer via up-regulating ADAM17 : ARPC5 serves as an oncogene in prostate cancer.
Title: ARPC5 is transcriptionally activated by KLF4, and promotes cell migration and invasion in prostate cancer via up-regulating ADAM17 : ARPC5 serves as an oncogene in prostate cancer.
ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells.
Title: ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells.
YAP facilitates melanoma migration through regulation of actin-related protein 2/3 complex subunit 5 (ARPC5).
Title: YAP facilitates melanoma migration through regulation of actin-related protein 2/3 complex subunit 5 (ARPC5).
Quantitative PCR demonstrated that ARPC5 was significantly increased in MM patients. GSEA results indicated that ARPC5 might affect cellular growth of myeloma cells through mammalian target of rapamycin (mTOR)C1 signaling pathway.
Title: The Expression of Actin-Related Protein 2/3 Complex Subunit 5 (ARPC5) Expression in Multiple Myeloma and its Prognostic Significance.
Levels of ARPC5 expression were significantly higher in invasive cancer cells and gene expression was directly regulated by miR-133a.
Title: Actin-related protein 2/3 complex subunit 5 (ARPC5) contributes to cell migration and invasion and is directly regulated by tumor-suppressive microRNA-133a in head and neck squamous cell carcinoma.
identified as a substrate of MAPK-activated protein kinase 2(MAPKAPK2); the ability of MAPKAPK2 to phosphorylate one isoform of p16-Arc suggests a possible mechanism by which the p38 MAPK cascade regulates remodeling of the actin cytoskeleton
Title: Identification of the p16-Arc subunit of the Arp 2/3 complex as a substrate of MAPK-activated protein kinase 2 by proteomic analysis.

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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
Immunodeficiency 113 with autoimmunity and autoinflammation MedGen: CN375816 OMIM: 620565 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56746 (e-PCR)
- UniSTS:17685

RH76379 (e-PCR)
- UniSTS:84502

RH78011 (e-PCR)
- UniSTS:5960

RH12696 (e-PCR)
- UniSTS:92495

SHGC-75978 (e-PCR)
- UniSTS:78205

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 actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament polymerization	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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: actin-related protein 2/3 complex subunit 5

Names: Arp2/3 protein complex subunit p16; actin related protein 2/3 complex, subunit 5, 16kDa; arp2/3 complex 16 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.

mRNA and Protein(s)

NM_001270439.2 → NP_001257368.1 actin-related protein 2/3 complex subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001257368.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.

Source sequence(s)

AI148784, AL137800, BC057237, CN291383

Consensus CDS

CCDS58050.1

UniProtKB/TrEMBL

B1ALC0

Related

ENSP00000294742.6, ENST00000294742.6

Conserved Domains (1) summary

pfam04699
Location:11 → 151

P16-Arc; ARP2/3 complex 16 kDa subunit (p16-Arc)
NM_005717.4 → NP_005708.1 actin-related protein 2/3 complex subunit 5 isoform 1

See identical proteins and their annotated locations for NP_005708.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).

Source sequence(s)

AF006088, AI148784, AL137800, CN291383

Consensus CDS

CCDS1357.1

UniProtKB/Swiss-Prot

A6NEC4, O15511, Q6PG42

UniProtKB/TrEMBL

B1ALC0

Related

ENSP00000352918.6, ENST00000359856.11

Conserved Domains (1) summary

pfam04699
Location:10 → 149

P16-Arc; ARP2/3 complex 16 kDa subunit (p16-Arc)