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: 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: 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
rs121908117 in
ATRIP;TREX1;ATRIP-TREX1 gene and
AICARDI-GOUTIERES SYNDROME 1
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.
PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.
PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
PMID 25848017 2015 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
PMID 17440703 2007 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 25138095 2014 Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Abnormality of the medulla oblongata
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Abnormality of the periventricular white matter
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Cerebellar Hypoplasia
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs121908117 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Chilblain lupus 1
PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
PMID 17440703 2007 Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus.
PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
PMID 25848017 2015 The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease.
PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Cortical gyral simplification
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Generalized hypotonia
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Hypoplasia of the brainstem
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs72556554 in
ATRIP;TREX1;ATRIP-TREX1 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.
rs184953805 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Seizures
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs121908117 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Vasculopathy, Retinal, With Cerebral Leukodystrophy
PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
PMID 17440703 2007 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
PMID 25848017 2015 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.