RFC1 (replication factor C subunit 1)

2003-02-01  

Identity

HGNC
RFC1
LOCATION
4p14
LOCUSID
5981
ALIAS
A1,CANVAS,MHCBFB,PO-GA,RECC1,RFC,RFC140
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5981
MIM: 102579
HGNC: 9969
Ensembl: ENSG00000035928

Variants:

dbSNP: 5981
ClinVar: 5981
TCGA: ENSG00000035928
COSMIC: RFC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000035928ENST00000349703P35251
ENSG00000035928ENST00000381897P35251
ENSG00000035928ENST00000503784D6RAD2
ENSG00000035928ENST00000504554H0Y8U4
ENSG00000035928ENST00000512275E0CX09
ENSG00000035928ENST00000514572H0Y9P8
ENSG00000035928ENST00000639695A0A1W2PP02

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA replicationKEGGko03030
Nucleotide excision repairKEGGko03420
Mismatch repairKEGGko03430
DNA replicationKEGGhsa03030
Nucleotide excision repairKEGGhsa03420
Mismatch repairKEGGhsa03430
RF-C complexKEGGhsa_M00289
BRCA1-associated genome surveillance complex (BASC)KEGGhsa_M00295
RF-C complexKEGGM00289
BRCA1-associated genome surveillance complex (BASC)KEGGM00295
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
DNA strand elongationREACTOMER-HSA-69190
Leading Strand SynthesisREACTOMER-HSA-69109
Polymerase switchingREACTOMER-HSA-69091
Lagging Strand SynthesisREACTOMER-HSA-69186
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere C-strand (Lagging Strand) SynthesisREACTOMER-HSA-174417
Polymerase switching on the C-strand of the telomereREACTOMER-HSA-174411
DNA ReplicationREACTOMER-HSA-69306
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Resolution of AP sites via the multiple-nucleotide patch replacement pathwayREACTOMER-HSA-110373
PCNA-Dependent Long Patch Base Excision RepairREACTOMER-HSA-5651801
DNA Damage BypassREACTOMER-HSA-73893
Recognition of DNA damage by PCNA-containing replication complexREACTOMER-HSA-110314
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateREACTOMER-HSA-110313
Translesion synthesis by REV1REACTOMER-HSA-110312
Translesion Synthesis by POLHREACTOMER-HSA-110320
Translesion synthesis by POLKREACTOMER-HSA-5655862
Translesion synthesis by POLIREACTOMER-HSA-5656121
Termination of translesion DNA synthesisREACTOMER-HSA-5656169
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Dual Incision in GG-NERREACTOMER-HSA-5696400
Gap-filling DNA repair synthesis and ligation in GG-NERREACTOMER-HSA-5696397
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374145372024Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?4
379172842024Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.0
380626162024RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.2
382918372024Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.0
383811762024RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.0
384477942024Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS.0
384879292024RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.0
374145372024Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?4
379172842024Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.0
380626162024RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.2
382918372024Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.0
383811762024RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.0
384477942024Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS.0
384879292024RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.0
362507662023New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.10

Citation

Dessen P

RFC1 (replication factor C subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42087/favicon/js/meetings/