Gene: TREX1

Alternate names for this Gene: AGS1|CRV|DRN3|HERNS

Gene Summary: This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: three prime repair exonuclease 1

Type of Gene: protein-coding

Gene: SHISA5

Alternate names for this Gene: SCOTIN

Gene Summary: This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: shisa family member 5

Type of Gene: protein-coding

Gene: ATRIP-TREX1

Alternate names for this Gene: -

Gene Summary: This gene represents naturally occurring read-through transcription between adjacent genes ATRIP (ATR-interacting protein) and TREX1 (three-prime repair exonuclease 1). The read-through transcript does not encode a protein.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: ATRIP-TREX1 readthrough

Type of Gene: ncRNA

Gene: ATRIP

Alternate names for this Gene: -

Gene Summary: This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: ATR interacting protein

Type of Gene: protein-coding

rs148833270 in TREX1;SHISA5;ATRIP-TREX1;ATRIP gene and Lupus Erythematosus, Systemic PMID 17660818 2007 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.