Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10095
Gene name Gene Name - the full gene name approved by the HGNC.
Actin related protein 2/3 complex subunit 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARPC1B
Synonyms (NCBI Gene) Gene synonyms aliases
ARC41, IMD71, PLTEID, p40-ARC, p41-ARC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD71
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton IDA 11741539
GO:0005515 Function Protein binding IPI 20404198, 25944859, 26655834
GO:0005634 Component Nucleus IEA
GO:0005829 Component Cytosol TAS
GO:0005885 Component Arp2/3 protein complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604223 704 ENSG00000130429
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE rs1794454006, rs1186149065, rs1584410808, rs760191638 28368018, 27965109
Platelet-type bleeding disorder Blood Platelet Disorders rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972
View all (26 more)
27965109
Vasculitis Vasculitis rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771
View all (6 more)
Associations from Text Mining
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