Gene: Rfc1

Basic information

Tag Content
Uniprot ID Q5U4B1; G3UXL4;
Entrez ID 19687
Genbank protein ID AAH85173.1
Genbank nucleotide ID NM_001347357.1
Ensembl protein ID ENSMUSP00000144954
Ensembl nucleotide ID ENSMUSG00000029191
Gene name Replication factor C subunit 1
Gene symbol Rfc1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MDIRKFFGVI SSGKKPVNET VKNEKTKASE GTVKGKKGVK EAKVNNSGKE DASKPKQHSK 60
KKRIINDSDS ESEETVQVKN AKKKSEKLSL SYKPGKVSQK DPVTYVSETD EDDDFVCKKA 120
ASKSKENGVS TNSYLGTSNV KKNEENVKTK NKPLSPIKLT PTSVLDYFGT ESVQRSGKKM 180
VTSKRKESSQ NTEDSRLNDE AIAKQLQLDE DAELERQLHE DEEFARTLAL LDEEPKIKKA 240
RKDSEEGEES FSSVQDDLSK AEKQKSPNKA ELFSTARKTY SPAKHGKGRA SEDAKQPCKS 300
AHRKEACSSP KASAKLALMK AKEESSYNET ELLAARRKES ATEPKGEKTT PKKTKVSPTK 360
RESVSPEDSE KKRTNYQAYR SYLNREGPKA LGSKEIPKGA ENCLEGLTFV ITGVLESIER 420
DEAKSLIERY GGKVTGNVSK KTNYLVMGRD SGQSKSDKAA ALGTKILDED GLLDLIRTMP 480
GKRSKYEMAA EAEMKKEKSK LERTPQKNDQ GKRKISPAKK ESESKKCKLT LLKNSPMKAV 540
KKEASTCPRG LDVKETHGNR SSNKEECLLW VDKYKPASLK NIIGQQGDQS CANKLLRWLR 600
NWHKSSPEEK KHAAKFGKLA SKDDGSSFKA ALLSGPPGVG KTTTASLVCQ ELGYSYVELN 660
ASDTRSKNSL KAVVAESLNN TSIKGFYTSG AAPSVSARHA LIMDEVDGMA GNEDRGGIQE 720
LIGLIKHTKI PIICMCNDRN HPKIRSLVHY CFDLRFQRPR VEQIKSAMLS IAFKEGLKIP 780
PPAMNEIILG ANQDVRQVLH NLSMWCAQSK ALTYDQAKAD SQRAKKDIRL GPFDVTRKVF 840
AAGEETAHMS LMDKSDLFFH DYSIAPLFVQ ENYLHVKPVA AGGDMKKHLM LLSRAADSIC 900
DGDLVDNQIR SKQNWSLLPT QAIYASVLPG ELMRGYMTQF PSFPSWLGKH SSTGKHDRIV 960
QDLSLHMSLR TYSSKRTVNM DYLSHIRDAL VRPLTSQGVE GAQHVIKLMD TYYLMKEDFE 1020
NIMEVSSWGG KPSAFSKLDP KVKAAFTRAY NKEAHLTPYS LQVVKTSRLS TGPALDSEYS 1080
EEFQEDDTQS EKEQDAVETD AMIKQKKTRS SKPSKSEREK ESKKGKGKNW KK 1132

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRFC1479112E2QW76Canis lupus familiarisPredictionMore>>
1:1 orthologRFC1102170128A0A452FBS8Capra hircusPredictionMore>>
1:1 orthologRFC15981P35251Homo sapiensPublicationMore>>
1:1 orthologRfc119687Q5U4B1Mus musculusPredictionMore>>
1:1 orthologRFC1A0A2I3TIE6Pan troglodytesPredictionMore>>
1:1 orthologRfc1D3ZFT1Rattus norvegicusPredictionMore>>
1:1 orthologrfc1100037336F1Q5P6Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RFC1c.80A>GPCR-RFLP29435434
RFC1c.80A>Gmeta analysis32042737
RFC1c.80A>G (incease risk)meta analysis30579244
RFC180A>GPCR-RFLP24749799
RFC1rs4818789A>CLinkage analysis24942095
RFC1rs3788205A>GLinkage analysis24942095

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-110312 Translesion synthesis by REV1IEA
R-MMU-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateIEA
R-MMU-110314 Recognition of DNA damage by PCNA-containing replication complexIEA
R-MMU-110320 Translesion Synthesis by POLHIEA
R-MMU-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathwayIEA
R-MMU-157579 Telomere MaintenanceIEA
R-MMU-1640170 Cell CycleIEA
R-MMU-174411 Polymerase switching on the C-strand of the telomereIEA
R-MMU-174417 Telomere C-strand (Lagging Strand) SynthesisIEA
R-MMU-180786 Extension of TelomeresIEA
R-MMU-5651801 PCNA-Dependent Long Patch Base Excision RepairIEA
R-MMU-5655862 Translesion synthesis by POLKIEA
R-MMU-5656121 Translesion synthesis by POLIIEA
R-MMU-5656169 Termination of translesion DNA synthesisIEA
R-MMU-5685942 HDR through Homologous Recombination (HRR)IEA
R-MMU-5693532 DNA Double-Strand Break RepairIEA
R-MMU-5693538 Homology Directed RepairIEA
R-MMU-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)IEA
R-MMU-5696397 Gap-filling DNA repair synthesis and ligation in GG-NERIEA
R-MMU-5696398 Nucleotide Excision RepairIEA
R-MMU-5696399 Global Genome Nucleotide Excision Repair (GG-NER)IEA
R-MMU-5696400 Dual Incision in GG-NERIEA
R-MMU-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)IEA
R-MMU-6782135 Dual incision in TC-NERIEA
R-MMU-6782210 Gap-filling DNA repair synthesis and ligation in TC-NERIEA
R-MMU-69091 Polymerase switchingIEA
R-MMU-69109 Leading Strand SynthesisIEA
R-MMU-69186 Lagging Strand SynthesisIEA
R-MMU-69190 DNA strand elongationIEA
R-MMU-69239 Synthesis of DNAIEA
R-MMU-69242 S PhaseIEA
R-MMU-69278 Cell Cycle, MitoticIEA
R-MMU-69306 DNA ReplicationIEA
R-MMU-73884 Base Excision RepairIEA
R-MMU-73886 Chromosome MaintenanceIEA
R-MMU-73893 DNA Damage BypassIEA
R-MMU-73894 DNA RepairIEA
R-MMU-73933 Resolution of Abasic Sites (AP sites)IEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0067 ATP-binding
KW-0235 DNA replication
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-1267 Proteomics identification
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR008921 DNA_pol3_clamp-load_cplx_C
IPR013725 DNA_replication_fac_RFC1_C
IPR027417 P-loop_NTPase
IPR012178 RFC1

PROSITE

PROSITE ID PROSITE Term
PS50172 BRCT

Pfam

Pfam ID Pfam Term
PF00004 AAA
PF00533 BRCT
PF08519 RFC1

Protein-protein interaction

Protein-miRNA interaction