CHTF18 (chromosome transmission fidelity factor 18)

Gene

• Entrez ID: 63922
• Gene name: Chromosome transmission fidelity factor 18
• Gene symbol: CHTF18
• Synonyms (NCBI Gene): C16orf41, C321D2.2, C321D2.3, C321D2.4, CHL12, Ctf18, RUVBL
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016447	hsa-miR-193b-3p	Microarray	20304954
MIRT043987	hsa-miR-378a-5p	CLASH	23622248
MIRT042013	hsa-miR-484	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003689	Function	DNA clamp loader activity	IBA
GO:0003689	Function	DNA clamp loader activity	IDA	12930902
GO:0005515	Function	Protein binding	IPI	12930902, 18499658
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IBA
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	12930902
GO:0031390	Component	Ctf18 RFC-like complex	IDA	12930902
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IDA	12930902

Other IDs

• MIM: 613201
• HGNC: 18435
• e!Ensembl: ENSG00000127586

Protein

• UniProt ID: Q8WVB6
• Protein name: Chromosome transmission fidelity protein 18 homolog (hCTF18) (CHL12)
• Protein function: Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1,
• PDB: 8UMT, 8UMU, 8UMV, 8UMW, 8UMY, 8UN0, 8UNJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00004	AAA	370 → 480	ATPase family associated with various cellular activities (AAA)	Domain

• Sequence:

  MEDYEQELCGVEDDFHNQFAAELEVLAELEGASTPSPSGVPLFTAGRPPRTFEEALARGD
  AASSPAPAASVGSSQGGARKRQVDADLQPAGSLPHAPRIKRPRLQVVKRLNFRSEEMEEP
  PPPDSSPTDITPPPSPEDLAELWGHGVSEAAADVGLTRASPAARNPVLRRPPILEDYVHV
  TSTEGVRAYLVLRADPMAPGVQGSLLHVPWRGGGQLDLLGVSLASLKKQVDGERRERLLQ
  EAQKLSDTLHSLRSGEEEAAQPLGAPEEEPTDGQDASSHCLWVDEFAPRHYTELLSDDFT
  NRCLLKWLKLWDLVVFGHERPSRKPRPSVEPARVSKEATAPGKWKSHEQVLEEMLEAGLD
  PSQRPKQKVALLCGPPGLGKTTLAHVIARHAGYSVVEMNASDDRSPEVFRTRIEAATQME
  SVLGAGGKPNCLVIDEIDGAPVAAINVLLSILNRKGPQEVGPQGPAVPSGGGRRRRAEGG
  LLMRPIICICNDQFAPSLRQLKQQAFLLHFPPTLPSRLVQRLQEVSLRQGMRADPGVLAA
  LCEKTDNDIRACINTLQFLYSRGQRELSVRDVQATRVGLKDQRRGLFSVWQEVFQLPRAQ
  RRRVGQDPALPADTLLLGDGDAGSLTSASQRFYRVLHAAASAGEHEKVVQGLFDNFLRLR
  LRDSSLGAVCVALDWLAFDDLLAGAAHHSQSFQLLRYPPFLPVAFHVLFASSHTPRITFP
  SSQQEAQNRMSQMRNLIQTLVSGIAPATRSRATPQALLLDALCLLLDILAPKLRPVSTQL
  YSTREKQQLASLVGTMLAYSLTYRQERTPDGQYIYRLEPNVEELCRFPELPARKPLTYQT
  KQLIAREIEVEKMRRAEASARVENSPQVDGSPPGLEGLLGGIGEKGVHRPAPRNHEQRLE
  HIMRRAAREEQPEKDFFGRVVVRSTAVPSAGDTAPEQDSVERRMGTAVGRSEVWFRFNEG
  VSNAVRRSLYIRDLL

• Sequence length: 975

Pathways

Reactome:

Polymerase switching on the C-strand of the telomere

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	37499630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	23755103	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31762824		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23755103	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39267058	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30640450		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31762824		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23755103		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	23133398		★☆☆☆☆ Found in Text Mining only