RFC1
entrez
5981
canonical
uniprot
P35251
canonical
ensembl
ENSG00000035928
resolver
ensp
ENSP00000261424
resolver
ensp
ENSP00000371321
resolver
ensp
ENSP00000576242
resolver
ensp
ENSP00000576244
resolver
ensp
ENSP00000593105
resolver
genesymbol
RFC1
resolver
genesymbol_syn
RFC140
resolver
hgnc
HGNC:9969
resolver
uniprot
A8K6E7
resolver
uniprot
Q5XKF5
resolver
uniprot
Q6PKU0
resolver
uniprot
Q86V41
resolver
uniprot
Q86V46
resolver
uniprot_entry
RFC1_HUMAN
resolver
uniprot_sec
A8K6E7
resolver
uniprot_sec
Q5XKF5
resolver
uniprot_sec
Q6PKU0
resolver
uniprot_sec
Q86V41
resolver
uniprot_sec
Q86V46
resolver
amino_acid_sequence
MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPSKKKRIIYDSDSESEETLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKKAASKSKENGRSTNSHLGTSNMKKNEENTKTKNKPLSPIKLTPTSVLDYFGTGSVQRSNKKMVASKRKELSQNTDESGLNDEAIAKQLQLDEDAELERQLHEDEEFARTLAMLDEEPKTKKARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERKSYSPRKQSKYESSKESQQHSKSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGETKTPKKTKSSPAKKESVSPEDSEKKRTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLESIERDEAKSLIERYGGKVTGNVSKKTNYLVMGRDSGQSKSDKAAALGTKIIDEDGLLNLIRTMPGKKSKYEIAVETEMKKESKLERTPQKNVQGKRKISPSKKESESKKSRPTSKRDSLAKTIKKETDVFWKSLDFKEQVAEETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIGQQGDQSCANKLLRWLRNWQKSSSEDKKHAAKFGKFSGKDDGSSFKAALLSGPPGVGKTTTASLVCQELGYSYVELNASDTRSKSSLKAIVAESLNNTSIKGFYSNGAASSVSTKHALIMDEVDGMAGNEDRGGIQELIGLIKHTKIPIICMCNDRNHPKIRSLVHYCFDLRFQRPRVEQIKGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARSKALTYDQAKADSHRAKKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGDMKKHLMLLSRAADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFPSWLGKHSSTGKHDRIVQDLALHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQDVVALMDTYYLMKEDFENIMEISSWGGKPSPFSKLDPKVKAAFTRAYNKEAHLTPYSLQAIKASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMIKKKTKSSKPSKPEKDKEPRKGKGKSSKK
uniprot
proteins
disease_involvement
DISEASE: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) [MIM:614575]: An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is caused by intronic AAGGG repeat expansions in intron 2. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}.
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 (PubMed:9488738). This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Can bind single- or double-stranded DNA. {ECO:0000269|PubMed:8999859, ECO:0000269|PubMed:9488738}.
uniprot
proteins
mass_dalton
128255
uniprot
proteins
protein_family
Activator 1 large subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
30926972
uniprot
proteins
pubmed
31230722
uniprot
proteins
pubmed
7914507
uniprot
proteins
pubmed
8248204
uniprot
proteins
pubmed
8512577
uniprot
proteins
pubmed
8999859
uniprot
proteins
pubmed
9488738
uniprot
proteins
pubmed
9705493
uniprot
proteins
sequence_length
1148
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins