• Gene id: 63922

Gene Summary

• Gene Symbol: CHTF18   Gene   UCSC   Ensembl
• Aliases: C16orf41, C321D2.2, C321D2.3, C321D2.4, CHL12, Ctf18, RUVBL
• Gene name: chromosome transmission fidelity factor 18
• Alternate names: chromosome transmission fidelity protein 18 homolog, C321D2.3 (novel protein), C321D2.4 (novel protein), CTF18, chromosome transmission fidelity factor 18 homolog, homolog of yeast CHL12, some homology with holliday junction DNA helicase RUVB like,
• Gene location: 16p13.3 (788619: 798073)     Exons: 21     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC
• OMIM: 605426

Protein Summary

• Protein general information: Q8WVB6  
  • Name: Chromosome transmission fidelity protein 18 homolog (hCTF18) (CHL12)
  • Length: 975  
  • Mass: 107383
• Sequence:

  MEDYEQELCGVEDDFHNQFAAELEVLAELEGASTPSPSGVPLFTAGRPPRTFEEALARGDAASSPAPAASVGSSQ
  GGARKRQVDADLQPAGSLPHAPRIKRPRLQVVKRLNFRSEEMEEPPPPDSSPTDITPPPSPEDLAELWGHGVSEA
  AADVGLTRASPAARNPVLRRPPILEDYVHVTSTEGVRAYLVLRADPMAPGVQGSLLHVPWRGGGQLDLLGVSLAS
  LKKQVDGERRERLLQEAQKLSDTLHSLRSGEEEAAQPLGAPEEEPTDGQDASSHCLWVDEFAPRHYTELLSDDFT
  NRCLLKWLKLWDLVVFGHERPSRKPRPSVEPARVSKEATAPGKWKSHEQVLEEMLEAGLDPSQRPKQKVALLCGP
  PGLGKTTLAHVIARHAGYSVVEMNASDDRSPEVFRTRIEAATQMESVLGAGGKPNCLVIDEIDGAPVAAINVLLS
  ILNRKGPQEVGPQGPAVPSGGGRRRRAEGGLLMRPIICICNDQFAPSLRQLKQQAFLLHFPPTLPSRLVQRLQEV
  SLRQGMRADPGVLAALCEKTDNDIRACINTLQFLYSRGQRELSVRDVQATRVGLKDQRRGLFSVWQEVFQLPRAQ
  RRRVGQDPALPADTLLLGDGDAGSLTSASQRFYRVLHAAASAGEHEKVVQGLFDNFLRLRLRDSSLGAVCVALDW
  LAFDDLLAGAAHHSQSFQLLRYPPFLPVAFHVLFASSHTPRITFPSSQQEAQNRMSQMRNLIQTLVSGIAPATRS
  RATPQALLLDALCLLLDILAPKLRPVSTQLYSTREKQQLASLVGTMLAYSLTYRQERTPDGQYIYRLEPNVEELC
  RFPELPARKPLTYQTKQLIAREIEVEKMRRAEASARVENSPQVDGSPPGLEGLLGGIGEKGVHRPAPRNHEQRLE
  HIMRRAAREEQPEKDFFGRVVVRSTAVPSAGDTAPEQDSVERRMGTAVGRSEVWFRFNEGVSNAVRRSLYIRDLL

• Structural information:
  • Interpro: IPR003593  IPR003959  IPR027417  
  • STRING: ENSP00000262315
• Other Databases: GeneCards:  CHTF18  Malacards:  CHTF18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017116	single-stranded DNA helicase activity	IBA	contributes to
GO:0003677	DNA binding	IBA	molecular function
GO:0003689	DNA clamp loader activity	IBA	contributes to
GO:0005634	nucleus	IBA	cellular component
GO:0017116	single-stranded DNA helicase activity	IDA	contributes to
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0003689	DNA clamp loader activity	IDA	contributes to
GO:0031390	Ctf18 RFC-like complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq