CHTF18 chromosome transmission fidelity factor 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHTF18provided by HGNC
Official Full Name: chromosome transmission fidelity factor 18provided by HGNC
Primary source: HGNC:HGNC:18435
See related: Ensembl:ENSG00000127586 MIM:613201; AllianceGenome:HGNC:18435
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHL12; Ctf18; RUVBL; C16orf41; C321D2.2; C321D2.3; C321D2.4
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 complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
Expression: Broad expression in bone marrow (RPKM 7.1), testis (RPKM 6.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (788620..798074)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (793329..802898)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (838620..848074)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.
Title: Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.
The proofreading exonuclease of leading-strand DNA polymerase epsilon prevents replication fork collapse at broken template strands.
Title: The proofreading exonuclease of leading-strand DNA polymerase epsilon prevents replication fork collapse at broken template strands.
CTF18-RFC contributes to cellular tolerance against chain-terminating nucleoside analogs (CTNAs) in cooperation with proofreading exonuclease activity of DNA polymerase epsilon.
Title: CTF18-RFC contributes to cellular tolerance against chain-terminating nucleoside analogs (CTNAs) in cooperation with proofreading exonuclease activity of DNA polymerase ε.
Human CTF18-RFC clamp-loader complexed with non-synthesising POLE efficiently loads the PCNA sliding clamp.
Title: Human CTF18-RFC clamp-loader complexed with non-synthesising DNA polymerase ε efficiently loads the PCNA sliding clamp.
CTF18 forms a complex with RPA when replication stress is elicited by hydroxyurea treatment or UV exposure during S phase. The interaction kinetics between CTF18 and RPA is positively associated with the phosphorylation status of Chk1.
Title: CTF18 interacts with replication protein A in response to replication stress.
This is the first report of somatic mutations within ESCO1 and CHTF18 in endometrial tumors and of MRE11A mutations in microsatellite-stable endometrial tumors.
Title: Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.
Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.
Title: Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.
hChlR1 has a role in the establishment of sister chromatid cohesion, with Ctf18-RFC and Fen1
Title: Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1.
Ctf18-RFC interacts physically with pol eta, which allows DNA replication forks to overcome interference by various template structures, including damaged DNA and DNA-protein complexes that maintain chromosome cohesion
Title: A second proliferating cell nuclear antigen loader complex, Ctf18-replication factor C, stimulates DNA polymerase eta activity.
The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.
Title: The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA clamp loader activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA clamp loader activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to single-stranded DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to single-stranded DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Ctf18 RFC-like complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: chromosome transmission fidelity protein 18 homolog

Names: CTF18, chromosome transmission fidelity factor 18 homolog; homolog of yeast CHL12; some homology with holliday junction DNA helicase RUVB like

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_022092.3 → NP_071375.1 chromosome transmission fidelity protein 18 homolog

See identical proteins and their annotated locations for NP_071375.1

Status: VALIDATED

Source sequence(s)

AL031033

Consensus CDS

CCDS45371.1

UniProtKB/Swiss-Prot

B7ZBA2, D3DU68, Q7Z6Y4, Q7Z6Y6, Q8WVB6, Q9BR83, Q9BRG5, Q9H7K3

UniProtKB/TrEMBL

E7EXA6

Related

ENSP00000262315.9, ENST00000262315.14

Conserved Domains (2) summary

cd00009
Location:352 → 522

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, ...

cl19912
Location:497 → 559

DNA_pol3_delta; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

788620..798074

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522572.2 → XP_011520874.1 chromosome transmission fidelity protein 18 homolog isoform X1

UniProtKB/TrEMBL

E7EXA6

Conserved Domains (2) summary

cd00009
Location:353 → 523

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, ...

cl19912
Location:498 → 560

DNA_pol3_delta; DNA polymerase III, delta subunit
XM_005255471.4 → XP_005255528.1 chromosome transmission fidelity protein 18 homolog isoform X3

See identical proteins and their annotated locations for XP_005255528.1

UniProtKB/TrEMBL

E7EXA6

Related

ENSP00000406252.2, ENST00000455171.6

Conserved Domains (2) summary

cd00009
Location:380 → 550

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, ...

cl19912
Location:525 → 587

DNA_pol3_delta; DNA polymerase III, delta subunit
XM_017023532.2 → XP_016879021.1 chromosome transmission fidelity protein 18 homolog isoform X2

UniProtKB/TrEMBL

E7EXA6

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

793329..802898

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313601.1 → XP_054169576.1 chromosome transmission fidelity protein 18 homolog isoform X1
XM_054313603.1 → XP_054169578.1 chromosome transmission fidelity protein 18 homolog isoform X3
XM_054313602.1 → XP_054169577.1 chromosome transmission fidelity protein 18 homolog isoform X4