RFC1 - replication factor C subunit 1 Gene

Also Known as A1; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5981

About RFC1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,287,456-39,366,362 (from NCBI)

This gene has 16 transcripts (splice variants), 215 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 16.8), thyroid (RPKM 15.7) and 25 other tissues.

Summary

This gene encodes the large subunit of replication factor C, a five subunit DNA Polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

RFC1 Products (4)

mRNA Protein Name
NM_001204747.2 NP_001191676.1 replication factor C subunit 1 isoform 2
NM_001363495.2 NP_001350424.1 replication factor C subunit 1 isoform 3
NM_001363496.2 NP_001350425.1 replication factor C subunit 1 isoform 4
NM_002913.5 NP_002904.3 replication factor C subunit 1 isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables DNA clamp unloader activity IMP
IMP: Inferred from mutant phenotype
23277426 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9488738 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in DNA-templated DNA replication IDA
IDA: Inferred from direct assay
9488738 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of DNA replication factor C complex IDA
IDA: Inferred from direct assay
9488738 GOA
part of DNA replication factor C complex IPI
IPI: Inferred from physical interaction
9488738 GOA
part of Elg1 RFC-like complex IDA
IDA: Inferred from direct assay
23277426 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFC1 Protein Structure

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (404 - 479)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (648 - 774)

RFC1

RFC1: Replication factor RFC1 C terminal domain (915 - 1068)

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  • 1148 a.a.
Protein Preferred Names Protein Names

replication factor C subunit 1

  • A1 140 kDa subunit

RFC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RFC1 P35251 RFC2 Homo sapiens P35250 9488738
Intra
RFC1 P35251 RFC2 Homo sapiens P35250 9488738
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
  • CANVAS

  • Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome

  • Cabv Syndrome

  • Cerebellar Ataxia With Bilateral Vestibulopathy Syndrome

  • Ataxia, Cerebellar, Neuropathy, And Vestibular Areflexia Syndrome

Hereditary Late-Onset Parkinson Disease
  • Autosomal Dominant Late-Onset Parkinson Disease

  • Lopd

  • Hereditary Late Onset Parkinson Disease

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Spinocerebellar Ataxia 37
  • Spinocerebellar Ataxia Type 37

  • SCA37

  • Spinocerebellar Ataxia With Altered Vertical Eye Movements

Adie Pupil
  • Adie Syndrome

  • Holmes-Adie Syndrome

  • Poorly Reacting Pupils

  • Adie'S Pupil Or Syndrome

  • Adie'S Pupil Syndrome

  • Adie'S Syndrome

  • Adie'S Pupil

  • Has

  • Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes

  • Tonic Pupil-Tendon Areflexia Syndrome

  • ADIEP

  • Tonic Pupil

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus RFC1 VGNC VGNC:106894
Canis familiaris RFC1 VGNC VGNC:45492
Macaca mulatta RFC1 VGNC VGNC:97819
Mus musculus RFC1 MGD MGI:97891
Felis catus RFC1 VGNC VGNC:69294
Rattus norvegicus RFC1 RGD RGD:620619
Others RFC1 NCBI