Gene Gene information from NCBI Gene database.
Entrez ID 10095
Gene name Actin related protein 2/3 complex subunit 1B
Gene symbol ARPC1B
Synonyms (NCBI Gene)
ARC41IMD71PLTEIDp40-ARCp41-ARC
Chromosome 7
Chromosome location 7q22.1
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 bo
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs111297226 G>A,C Pathogenic Splice donor variant
rs760191638 CTGCT>- Pathogenic Coding sequence variant, frameshift variant
rs1186149065 C>A,T Pathogenic Coding sequence variant, missense variant
rs1584409386 ->CC Pathogenic Coding sequence variant, frameshift variant
rs1584410808 GA>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
454
miRTarBase ID miRNA Experiments Reference
MIRT002566 hsa-miR-124-3p Microarray 15685193
MIRT002566 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002566 hsa-miR-124-3p Microarray 15685193
MIRT616875 hsa-miR-6768-5p HITS-CLIP 23313552
MIRT616874 hsa-miR-5003-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005200 Function Structural constituent of cytoskeleton IDA 11741539
GO:0005200 Function Structural constituent of cytoskeleton TAS 9230079
GO:0005515 Function Protein binding IPI 25944859
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604223 704 ENSG00000130429
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15143
Protein name Actin-related protein 2/3 complex subunit 1B (Arp2/3 complex 41 kDa subunit) (p41-ARC)
Protein function Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:11741539, PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin netwo
PDB 6UHC , 6YW6 , 8P94
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 42 80 WD domain, G-beta repeat Repeat
PF00400 WD40 132 170 WD domain, G-beta repeat Repeat
Sequence
MAYHSFLVEPISCHAWNKDRTQIAICPNNHEVHIYEKSGAKWTKVHELKEHNGQVTGIDW
APESNRIVTCGTDRNAYVWT
LKGRTWKPTLVILRINRAARCVRWAPNENKFAVGSGSRVI
SICYFEQENDWWVCKHIKKPIRSTVLSLDWHPNNVLLAAGSCDFKCRIFSAYIKEVEERP
APTPWGSKMPFGELMFESSSSCGWVHGVCFSASGSRVAWVSHDSTVCLADADKKMAVATL
ASETLPLLALTFITDNSLVAAGHDCFPVLFTYDAAAGMLSFGGRLDVPKQSSQRGLTARE
RFQNLDKKASSEGGTAAGAGLDSLHKNSVSQISVLSGGKAKCSQFCTTGMDGGMSIWDVK
SLESALKDLKIK
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Tight junction
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Bacterial invasion of epithelial cells
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
  Regulation of actin dynamics for phagocytic cup formation
EPHB-mediated forward signaling
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARPC1B-related disorder Likely pathogenic; Pathogenic rs1794611030 RCV003418257
Combined immunodeficiency Pathogenic rs760191638 RCV001027546
Inherited Immunodeficiency Diseases Pathogenic rs1584409386 RCV001027544
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease Pathogenic; Likely pathogenic rs779597975, rs2484628438, rs1794454006, rs1186149065, rs1584410808, rs760191638, rs1794516424, rs1794553748, rs111297226, rs371760619, rs1256029497, rs1794559320 RCV001332663
RCV005645448
RCV000513526
RCV000512862
RCV000987936
RCV001251027
RCV001251022
RCV001251023
RCV001251024
RCV001251025
RCV001251026
RCV001253464
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs111297226 -
Abnormal bleeding Uncertain significance rs11556758 RCV001270567
Cervical cancer Benign rs189323739 RCV005911318
Colon adenocarcinoma Uncertain significance; - rs370537333, rs377169175 RCV005911094
RCV005931782
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abscess Associate 31379835
Adenocarcinoma of Lung Associate 35441736
Asthma Associate 33679784
Blood Platelet Disorders Associate 28368018, 35163398
Carcinogenesis Associate 20345486
CD59 Deficiency Associate 35163398
Deafness Autosomal Recessive 71 Associate 39277702
Diabetes Mellitus Associate 40718484
Drug Hypersensitivity Associate 33679784
Eczema Associate 31379835