CHTF8 chromosome transmission fidelity factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHTF8provided by HGNC
Official Full Name: chromosome transmission fidelity factor 8provided by HGNC
Primary source: HGNC:HGNC:24353
See related: Ensembl:ENSG00000168802 MIM:613202; AllianceGenome:HGNC:24353
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTF8; DERPC
Summary: This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]
Expression: Ubiquitous expression in thyroid (RPKM 29.7), kidney (RPKM 27.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69118010..69132588, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (74914320..74928895, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69151913..69166491, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
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.
hCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC
Title: Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment.

Submit: New GeneRIF Correction

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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Markers

D16S3301 (e-PCR)
- UniSTS:15940

D16S2678 (e-PCR)
- UniSTS:152427

SHGC-60590 (e-PCR)
- UniSTS:45752

SHGC-60824 (e-PCR)
- UniSTS:6100

G32357 (e-PCR)
- UniSTS:116948

A006H34 (e-PCR)
- UniSTS:56047

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to DNA clamp loader activity	IDA Inferred from Direct Assay more info	PubMed
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 mitotic sister chromatid cohesion	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 nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: chromosome transmission fidelity protein 8 homolog

Names: CTF8, chromosome transmission fidelity factor 8 homolog; decreased expression in renal and prostate cancer protein

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_001039690.5 → NP_001034779.1 chromosome transmission fidelity protein 8 homolog

See identical proteins and their annotated locations for NP_001034779.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AC009027

Consensus CDS

CCDS42185.1

UniProtKB/Swiss-Prot

A8MYX8, P0CG13, Q71E72, Q8NDH8, Q8WV66, Q9NX73

Related

ENSP00000408367.3, ENST00000448552.7

Conserved Domains (1) summary

pfam09696
Location:13 → 113

Ctf8; Ctf8
NM_001040146.5 → NP_001035236.1 chromosome transmission fidelity protein 8 homolog

See identical proteins and their annotated locations for NP_001035236.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same protein.

Source sequence(s)

AC009027

Consensus CDS

CCDS42185.1

UniProtKB/Swiss-Prot

A8MYX8, P0CG13, Q71E72, Q8NDH8, Q8WV66, Q9NX73

Related

ENSP00000381290.2, ENST00000398235.6

Conserved Domains (1) summary

pfam09696
Location:13 → 113

Ctf8; Ctf8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

69118010..69132588 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

74914320..74928895 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001040145.1: Suppressed sequence

Description

NM_001040145.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
NM_017804.3: Suppressed sequence

Description

NM_017804.3: This RefSeq was permanently suppressed because the protein coding region was erroneously annotated in the 3' UTR and represented an invalid protein (NP_060274.3).