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
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: 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
rs79318303 in
ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and
AICARDI-GOUTIERES SYNDROME 1
PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
rs79318303 in
ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and
Chilblain lupus 1
PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
rs79318303 in
ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and
Vasculopathy, Retinal, With Cerebral Leukodystrophy
PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].