Male Infertility Database

Search Result

Gene id

5981

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

RFC1 Gene UCSC Ensembl

Aliases

A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC, RFC140

Gene name

replication factor C subunit 1

Alternate names

replication factor C subunit 1, A1 140 kDa subunit, DNA-binding protein PO-GA, MHC binding factor, beta, RF-C 140 kDa subunit, activator 1 140 kDa subunit, activator 1 large subunit, activator 1 subunit 1, replication factor C (activator 1) 1, 145kDa, replication ,

Gene location

4p14 (39366380: 39287455) Exons: 25 NC_000004.12

Gene summary(Entrez)

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, bi

OMIM

606402

SNPs

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174

Protein Summary

Protein general information

P35251

Name: Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA binding protein PO GA) (Replication factor C 140 kDa subunit) (RF C 140 kDa subunit) (RFC140) (Replication factor C

Length: 1148 Mass: 128255

Tissue specificity: Wide tissue distribution. Undetectable in placental tissue.

Sequence

MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPSKKKRIIYDSDSESEE
TLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKKAASKSKENGRSTNSHLGTSNMKKNEENTKT
KNKPLSPIKLTPTSVLDYFGTGSVQRSNKKMVASKRKELSQNTDESGLNDEAIAKQLQLDEDAELERQLHEDEEF
ARTLAMLDEEPKTKKARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERKSYSPRKQSKYESSKESQQHS
KSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGETKTPKKTKSSPAKKESVSPEDSEKK
RTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLESIERDEAKSLIERYGGKVTGNVSKKTNYLVM
GRDSGQSKSDKAAALGTKIIDEDGLLNLIRTMPGKKSKYEIAVETEMKKESKLERTPQKNVQGKRKISPSKKESE
SKKSRPTSKRDSLAKTIKKETDVFWKSLDFKEQVAEETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIG
QQGDQSCANKLLRWLRNWQKSSSEDKKHAAKFGKFSGKDDGSSFKAALLSGPPGVGKTTTASLVCQELGYSYVEL
NASDTRSKSSLKAIVAESLNNTSIKGFYSNGAASSVSTKHALIMDEVDGMAGNEDRGGIQELIGLIKHTKIPIIC
MCNDRNHPKIRSLVHYCFDLRFQRPRVEQIKGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARS
KALTYDQAKADSHRAKKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGD
MKKHLMLLSRAADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFPSWLGKHSSTGKHDRI
VQDLALHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQDVVALMDTYYLMKEDFENIMEISSWGGKPSP
FSKLDPKVKAAFTRAYNKEAHLTPYSLQAIKASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMIKKKTK
SSKPSKPEKDKEPRKGKGKSSKK

Structural information

Protein Domains	(402..49-) (/note="BRCT-) (/evidence="ECO:0000255\|PROSITE-ProRule:PRU00033"-)
Interpro:	IPR003593 IPR003959 IPR001357 IPR036420 IPR008921 IPR013725 IPR027417 IPR012178
Prosite:	PS50172
PDB:	2EBU 2K6G 2K7F
PDBsum:	2EBU 2K6G 2K7F
MINT:
STRING:	ENSP00000371321

Other Databases

GeneCards: RFC1 Malacards: RFC1

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0061860	DNA clamp unloader activi ty	IBA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005663	DNA replication factor C complex	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003689	DNA clamp loader activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0006261	DNA-dependent DNA replica tion	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0006283	transcription-coupled nuc leotide-excision repair	TAS	biological process
GO:0033683	nucleotide-excision repai r, DNA incision	TAS	biological process
GO:0042276	error-prone translesion s ynthesis	TAS	biological process
GO:0042276	error-prone translesion s ynthesis	TAS	biological process
GO:0042276	error-prone translesion s ynthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006296	nucleotide-excision repai r, DNA incision, 5'-to le sion	TAS	biological process
GO:0006297	nucleotide-excision repai r, DNA gap filling	TAS	biological process
GO:0019985	translesion synthesis	TAS	biological process
GO:0032201	telomere maintenance via semi-conservative replica tion	TAS	biological process
GO:0032201	telomere maintenance via semi-conservative replica tion	TAS	biological process
GO:0032201	telomere maintenance via semi-conservative replica tion	TAS	biological process
GO:0042769	DNA damage response, dete ction of DNA damage	TAS	biological process
GO:0070987	error-free translesion sy nthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular function
GO:0032991	protein-containing comple x	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0003690	double-stranded DNA bindi ng	IEA	molecular function
GO:0019904	protein domain specific b inding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of tr anscription by RNA polyme rase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043085	positive regulation of ca talytic activity	IEA	biological process
GO:0005663	DNA replication factor C complex	IDA	cellular component
GO:0031391	Elg1 RFC-like complex	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0090618	DNA clamp unloading	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061860	DNA clamp unloader activi ty	IMP	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa03420	Nucleotide excision repair
hsa03030	DNA replication
hsa03430	Mismatch repair

Diseases

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Associated diseases	References
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	KEGG:H02366
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	KEGG:H02366
Hypospermatogenesis	MIK: 28361989

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28361989	Hyposperma togenesis			6 (3 controls, 3 Klienfelter s yndrome	Male infertility	Microarray	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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