Gene: PTCD1

Alternate names for this Gene: -

Gene Summary: This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: pentatricopeptide repeat domain 1

Type of Gene: protein-coding

Gene: CPSF4

Alternate names for this Gene: CPSF30|NAR|NEB-1|NEB1

Gene Summary: Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: cleavage and polyadenylation specific factor 4

Type of Gene: protein-coding

Gene: ATP5MF-PTCD1

Alternate names for this Gene: ATP5J2-PTCD1

Gene Summary: This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: ATP5MF-PTCD1 readthrough

Type of Gene: protein-coding

rs34022779 in PTCD1;CPSF4;ATP5MF-PTCD1 gene and Dehydroepiandrosterone sulfate measurement (procedure) PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs10215854 in PTCD1;CPSF4;ATP5MF-PTCD1 gene and Hormone measurement PMID 21533175 2011 Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

rs10215854 in PTCD1;CPSF4;ATP5MF-PTCD1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.