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RFC2 replication factor C subunit 2 [ Homo sapiens (human) ]

Gene ID: 5982, updated on 21-Dec-2019

Summary

Official Symbol
RFC2provided by HGNC
Official Full Name
replication factor C subunit 2provided by HGNC
Primary source
HGNC:HGNC:9970
See related
Ensembl:ENSG00000049541 MIM:600404
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RFC40
Summary
This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in lymph node (RPKM 10.0), placenta (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See RFC2 in Genome Data Viewer
Location:
7q11.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74231502..74254458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73645832..73668788, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590 Neighboring gene linker for activation of T cells family member 2 Neighboring gene uncharacterized LOC107986742 Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene CAP-Gly domain containing linker protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes RFC, during Tat-mediated transactivation of the HIV-1 LTR PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA clamp loader activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to DNA clamp loader activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Ctf18 RFC-like complex IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication factor C complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication factor C complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
replication factor C subunit 2
Names
A1 40 kDa subunit
RF-C 40 kDa subunit
activator 1 subunit 2
replication factor C (activator 1) 2, 40kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008102.1 RefSeqGene

    Range
    5010..27907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278791.1NP_001265720.1  replication factor C subunit 2 isoform 3

    See identical proteins and their annotated locations for NP_001265720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BM563468, HY046046, HY056452
    UniProtKB/Swiss-Prot
    P35250
    Conserved Domains (3) summary
    cd00009
    Location:184
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    pfam08542
    Location:173241
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:107135
    AAA_assoc_2; AAA C-terminal domain
  2. NM_001278792.1NP_001265721.1  replication factor C subunit 2 isoform 4

    See identical proteins and their annotated locations for NP_001265721.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BM810551, HY046046, HY056452
    Consensus CDS
    CCDS75618.1
    UniProtKB/Swiss-Prot
    P35250
    UniProtKB/TrEMBL
    A0A087WVY3
    Related
    ENSP00000479768.1, ENST00000621097.4
    Conserved Domains (1) summary
    cl25702
    Location:5245
    Rad17; Rad17 cell cycle checkpoint protein
  3. NM_001278793.1NP_001265722.1  replication factor C subunit 2 isoform 5

    See identical proteins and their annotated locations for NP_001265722.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in its 5' UTR, lacks an in-frame exon in its 5' coding region, and begins translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BQ674131, HY046046, HY056452
    UniProtKB/Swiss-Prot
    P35250
    Conserved Domains (3) summary
    PLN03025
    Location:9213
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:139207
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:73101
    AAA_assoc_2; AAA C-terminal domain
  4. NM_002914.4NP_002905.2  replication factor C subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_002905.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, HY046046, HY056452
    Consensus CDS
    CCDS5567.1
    UniProtKB/Swiss-Prot
    P35250
    UniProtKB/TrEMBL
    Q75MT5
    Related
    ENSP00000275627.3, ENST00000352131.7
    Conserved Domains (4) summary
    cd00009
    Location:51151
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    PLN03025
    Location:36314
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:240308
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:174202
    AAA_assoc_2; AAA C-terminal domain
  5. NM_181471.3NP_852136.1  replication factor C subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_852136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB451243, AW450467, BC002813, HY046046, HY056452
    Consensus CDS
    CCDS5568.1
    UniProtKB/Swiss-Prot
    P35250
    Related
    ENSP00000055077.3, ENST00000055077.8
    Conserved Domains (4) summary
    cd00009
    Location:51185
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    PLN03025
    Location:36348
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:274342
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:208236
    AAA_assoc_2; AAA C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74231502..74254458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012492.2XP_016867981.1  replication factor C subunit 2 isoform X1

    Conserved Domains (3) summary
    cd00009
    Location:184
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    pfam08542
    Location:173241
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:107135
    AAA_assoc_2; AAA C-terminal domain
  2. XM_006716080.2XP_006716143.1  replication factor C subunit 2 isoform X2

    Conserved Domains (3) summary
    PLN03025
    Location:9211
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:137205
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:7199
    AAA_assoc_2; AAA C-terminal domain
  3. XM_017012493.1XP_016867982.1  replication factor C subunit 2 isoform X2

    Conserved Domains (3) summary
    PLN03025
    Location:9211
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:137205
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:7199
    AAA_assoc_2; AAA C-terminal domain

RNA

  1. XR_927506.3 RNA Sequence

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