1. Gene
  2. CHTF18 - chromosome transmission fidelity factor 18 Gene

CHTF18 - chromosome transmission fidelity factor 18 Gene

Homo sapiens

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

Gene ID: 63922 | Gene type: protein coding

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

CHTF18 Protein Structure

AAA

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

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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