CHTF18 - chromosome transmission fidelity factor 18 Gene

Also Known as CHL12; Ctf18; RUVBL; C16orf41; C321D2.2; C321D2.3; C321D2.4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 63922

About CHTF18

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:788,620-798,074 (from NCBI)

This gene has 20 transcripts (splice variants) and 160 orthologues. Broad expression in bone marrow (RPKM 7.1), testis (RPKM 6.3) and 24 other tissues.

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]

CHTF18 Products (1)

mRNA Protein Name
NM_022092.3 NP_071375.1 chromosome transmission fidelity protein 18 homolog
Molecular Function GO Annotation Evidence References Source
contributes to DNA clamp loader activity IDA
IDA: Inferred from direct assay
12930902 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12930902 GOA
contributes to single-stranded DNA helicase activity IDA
IDA: Inferred from direct assay
12930902 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of DNA-directed DNA polymerase activity IDA
IDA: Inferred from direct assay
12930902 GOA
Cellular Component GO Annotation Evidence References Source
part of Ctf18 RFC-like complex IDA
IDA: Inferred from direct assay
12930902 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHTF18 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (371 - 440)

  • 0
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  • 800
  • 975 a.a.
Protein Preferred Names Protein Names

chromosome transmission fidelity protein 18 homolog

  • CTF18, chromosome transmission fidelity factor 18 homolog

Related Diseases

Diseases Alias
Roberts-Sc Phocomelia Syndrome
  • Roberts Syndrome

  • Sc Phocomelia Syndrome

  • RBS

  • Long Bone Deficiencies Associated With Cleft Lip-Palate

  • Sc Pseudothalidomide Syndrome

  • Appelt-Gerken-Lenz Syndrome

  • Pseudothalidomide Syndrome

  • Tetraphocomelia-Cleft Palate Syndrome

  • Hypomelia Hypotrichosis Facial Hemangioma Syndrome

  • Roberts Syndrome/Sc Phocomelia

  • Roberts Tetraphocomelia Syndrome

  • Sc Syndrome

  • Sc Phocomelia

  • Sc Disease

  • Sc

  • Hemoglobin Sc Disease

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CHTF18 VGNC VGNC:82344
Mus musculus CHTF18 MGD MGI:2384887
Macaca mulatta CHTF18 VGNC VGNC:71004
Rattus norvegicus CHTF18 RGD RGD:1310473
Canis familiaris CHTF18 VGNC VGNC:39260
Bos taurus CHTF18 VGNC VGNC:27352
Others CHTF18 NCBI