RFC4
entrez
5984
canonical
uniprot
P35249
canonical
ensembl
ENSG00000163918
resolver
ensp
ENSP00000296273
resolver
ensp
ENSP00000376272
resolver
genesymbol
RFC4
resolver
hgnc
HGNC:9972
resolver
uniprot
B4DM41
resolver
uniprot
D3DNV2
resolver
uniprot
Q6FHX7
resolver
uniprot_entry
RFC4_HUMAN
resolver
uniprot_sec
B4DM41
resolver
uniprot_sec
D3DNV2
resolver
uniprot_sec
Q6FHX7
resolver
amino_acid_sequence
MQAFLKGTSISTKPPLTKDRGVAASAGSSGENKKAKPVPWVEKYRPKCVDEVAFQEEVVAVLKKSLEGADLPNLLFYGPPGTGKTSTILAAARELFGPELFRLRVLELNASDERGIQVVREKVKNFAQLTVSGSRSDGKPCPPFKIVILDEADSMTSAAQAALRRTMEKESKTTRFCLICNYVSRIIEPLTSRCSKFRFKPLSDKIQQQRLLDIAKKENVKISDEGIAYLVKVSEGDLRKAITFLQSATRLTGGKEITEKVITDIAGVIPAEKIDGVFAACQSGSFDKLEAVVKDLIDEGHAATQLVNQLHDVVVENNLSDKQKSIITEKLAEVDKCLADGADEHLQLISLCATVMQQLSQNC
uniprot
proteins
disease_involvement
DISEASE: Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) [MIM:621010]: An autosomal recessive neuromuscular disorder characterized by delayed gross motor development, gait disturbances, incoordination, muscle weakness, hearing impairment, and decreased body weight. Some patients are wheelchair bound and death in infancy or childhood may occur. {ECO:0000269|PubMed:39106866}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA. The RFC4 subunit probably functions as a scaffold on which the other complex components can assemble. {ECO:0000269|PubMed:39106866, ECO:0000269|PubMed:9488738}.
uniprot
proteins
mass_dalton
39682
uniprot
proteins
protein_family
Activator 1 small subunits family
uniprot
proteins
pubmed
11572977
uniprot
proteins
pubmed
1351677
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39106866
uniprot
proteins
pubmed
8999859
uniprot
proteins
pubmed
9488738
uniprot
proteins
sequence_length
363
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins