ARPC4
entrez
10093
canonical
uniprot
P59998
canonical
ensembl
ENSG00000241553
resolver
ensembl
ENSG00000250151
resolver
ensp
ENSP00000380431
resolver
ensp
ENSP00000388169
resolver
ensp
ENSP00000432235
resolver
ensp
ENSP00000473435
resolver
genesymbol
ARPC4
resolver
genesymbol_syn
ARC20
resolver
hgnc
HGNC:707
resolver
uniprot
C9JWM7
resolver
uniprot
E7ETI0
resolver
uniprot
F6TTL5
resolver
uniprot
O15509
resolver
uniprot
Q6P0W5
resolver
uniprot
Q96QJ3
resolver
uniprot_entry
ARPC4_HUMAN
resolver
uniprot_sec
C9JWM7
resolver
uniprot_sec
E7ETI0
resolver
uniprot_sec
F6TTL5
resolver
uniprot_sec
O15509
resolver
uniprot_sec
Q6P0W5
resolver
uniprot_sec
Q96QJ3
resolver
amino_acid_sequence
MTATLRPYLSAVRATLQAALCLENFSSQVVERHNKPEVEVRSSKELLLQPVTISRNEKEKVLIEGSINSVRVSIAVKQADEIEKILCHKFMRFMMMRAENFFILRRKPVEGYDISFLITNFHTEQMYKHKLVDFVIHFMEEIDKEISEMKLSVNARARIVAEEFLKNF
uniprot
proteins
disease_involvement
DISEASE: Developmental delay, language impairment, and ocular abnormalities (DEVLO) [MIM:620141]: An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. {ECO:0000269|PubMed:35047857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). {ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:9230079}.
uniprot
proteins
mass_dalton
19667
uniprot
proteins
protein_family
ARPC4 family
uniprot
proteins
pubmed
11741539
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
29925947
uniprot
proteins
pubmed
35047857
uniprot
proteins
pubmed
9230079
uniprot
proteins
pubmed
9359840
uniprot
proteins
sequence_length
168
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9359840}. Cell projection {ECO:0000269|PubMed:9359840}. Nucleus {ECO:0000269|PubMed:29925947}.
uniprot
proteins