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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]
ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a Protein Coding gene. Diseases associated with ARPC1B include Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease and Combined T Cell And B Cell Immunodeficiency. Among its related pathways are Development Slit-Robo signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is ARPC1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | IDA | 11741539 |
GO:0005515 | protein binding | IPI | 20404198 |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO:0051015 | contributes_to actin filament binding | IDA | 11741539 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005885 | Arp2/3 protein complex | IEA,IDA | 11741539 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | G-protein signaling RAC1 in cellular process |
Cytoskeleton remodeling CDC42 in cellular processes
.37
G-protein signaling RAC1 in cellular process
.37
|
|
2 | EPH-Ephrin signaling |
Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
.35
|
|
3 | Regulation of actin dynamics for phagocytic cup formation | ||
4 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
|
Cytoskeleton remodeling Integrin outside-in signaling
.37
|
5 | Development Slit-Robo signaling |
Development Slit-Robo signaling
.44
Neurophysiological process Receptor-mediated axon growth repulsion
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030833 | regulation of actin filament polymerization | IEA | -- |
GO:0032355 | response to estradiol | IEA | -- |
GO:0034314 | Arp2/3 complex-mediated actin nucleation | IEA,IDA | 11741539 |
GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | TAS | -- |
GO:0043627 | response to estrogen | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP19: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP21: |
ExUns: | 12d | · | 12e | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | · | 16c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||
SP14: | - | - | |||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||
SP16: | |||||||||||||||||||||||||
SP17: | |||||||||||||||||||||||||
SP18: | |||||||||||||||||||||||||
SP19: | |||||||||||||||||||||||||
SP20: | |||||||||||||||||||||||||
SP21: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARPC1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARPC1B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARPC1B 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARPC1B 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arpc1b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Arpc1b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARPC1B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARPC1B 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arpc1b 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | arx-3and3n122-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arpc1b 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sop2 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | arx-3 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARC40 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ARPC1B 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0817200 30 |
|
||
Os.18424 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.12702 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10119 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636660 | Uncertain Significance: not provided | 99,392,819(+) | C/G | MISSENSE_VARIANT | |
724011 | Benign: not provided | 99,390,938(+) | C/T | SYNONYMOUS_VARIANT | |
731661 | Benign: not provided | 99,389,957(+) | G/T | MISSENSE_VARIANT | |
769728 | Benign: not provided | 99,386,718(+) | A/G | MISSENSE_VARIANT | |
802341 | Pathogenic: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE | 99,391,231(+) | CAG/C | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
|
|
combined t cell and b cell immunodeficiency |
|
|
muscular dystrophy, congenital, megaconial type |
|
|