RFC1 - replication factor C subunit 1 Gene

Homo sapiens

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

Gene ID: 5981 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	Source
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	9488738	GOA

Cellular Component GO Annotation	Evidence	Reference	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

AAA

RFC1

0
200
400
600
800
1000
1148 a.a.

Protein Preferred Names

Protein Names

replication factor C subunit 1

A1 140 kDa subunit

RFC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RFC1	P35251	RFC2	Homo sapiens	P35250	Solution Sedimentation	9488738
Intra	RFC1	P35251	RFC2	Homo sapiens	P35250	Pull Down	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11865	RFC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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