ARPC1B
Actin Related Protein 2/3 Complex Subunit 1B
Gene Information Card
| Symbol | ARPC1B |
|---|---|
| Full Name | Actin Related Protein 2/3 Complex Subunit 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10095 ncbi.nlm.nih.gov/gene/10095 |
| Ensembl ID | ENSG00000137411 |
| UniProt ID | O15143 |
| OMIM ID | 604223 |
| HGNC ID | 704 |
| Aliases | ARC41, p41-ARC, SOP2H |
Description
ARPC1B encodes a component of the actin-related protein 2/3 (ARP2/3) complex, which is essential for actin nucleation and branching. This subunit contributes to the structural integrity and regulation of the complex, playing a critical role in cell motility, endocytosis, and immune synapse formation. Mutations in ARPC1B are associated with combined immunodeficiency and platelet abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined immunodeficiency with platelet abnormalities | Loss-of-function mutations impair ARP2/3 complex activity, disrupting actin dynamics in immune cells and platelets, leading to defective T-cell proliferation and thrombocytopenia. | ClinVar, OMIM |
| Platelet-type bleeding disorder 18 | Defects in ARPC1B cause abnormal platelet cytoskeleton, resulting in impaired platelet aggregation and granule secretion. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lymph node | 8.9 | Medium |
| Bone marrow | 7.6 | Medium |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| Jurkat T cells | 18.2 | High expression |
| K562 | 14.5 | High expression |
| HeLa | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.548G>A (p.Arg183Gln) | Missense | Rare | Loss of function; disrupts ARP2/3 complex assembly |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein expression |
| c.103C>T (p.Arg35*) | Nonsense | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced ARP2/3 complex activity and impaired actin polymerization.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization | • actin cytoskeleton organization |
| • ARP2/3 complex-mediated actin nucleation | • cell migration |
| • immune response |
Pathways
• Actin cytoskeleton regulation (KEGG: hsa04810)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
• Chemokine signaling pathway (KEGG: hsa04062)
Protein Summary
ARPC1B is a 41 kDa subunit of the ARP2/3 complex, which nucleates branched actin filaments. It is highly expressed in hematopoietic cells and is crucial for immune cell function and platelet formation. Loss-of-function mutations cause combined immunodeficiency with platelet abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARPC1B Knockout HEK293 Cell Line | EDJ-KQ50930 | Human | 10095 | Details Get a Quote |
| ARPC1B Knockout HeLa Cell Line | EDJ-KQ55317 | Human | 10095 | Details Get a Quote |
| ARPC1B Knockout A-549 Cell Line | EDJ-KQ63801 | Human | 10095 | Details Get a Quote |
| ARPC1B Knockout HCT 116 Cell Line | EDJ-KQ72259 | Human | 10095 | Details Get a Quote |
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