1. Gene
  2. TREX1 - three prime repair exonuclease 1 Gene

TREX1 - three prime repair exonuclease 1 Gene

Homo sapiens

Also known as CRV; AGS1; DRN3; HERNS; RVCLS

Gene ID: 11277 | Gene type: protein coding

About TREX1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,465,830-48,467,645 (from NCBI)

This gene has 6 transcripts (splice variants), 163 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in spleen (RPKM 9.5), lymph node (RPKM 7.7) and 25 other tissues.

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. [provided by RefSeq, Sep 2012]

TREX1 Products(2)

mRNA Protein Name
NM_007248.5 NP_009179.2 three-prime repair exonuclease 1 isoform c
NM_033629.6 NP_338599.1 three-prime repair exonuclease 1 isoform b
Protein Preferred Names Protein Names

three-prime repair exonuclease 1

3' repair exonuclease 1

Related Diseases

Diseases Alias
Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Aicardi-Goutieres Syndrome 1

AGS1

Ags

Cree Encephalitis

Pseudotoxoplasmosis Syndrome

Aicardi-Goutieres Syndrome 1, Dominant And Recessive

Pseudo-Torch Syndrome

Encephalopathy, Familial Infantile, With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Autosomal Dominant Aicardi-Goutieres Syndrome

Encephalopathy Familial Infantile With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome, Type 1, Dominant And Recessive

Aicardi-Goutieres Syndrome 5

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Familial Chilblain Lupus
Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Thrombotic Microangiopathy

Tma

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Encephalitis

Mumps Encephalitis

Mumps Meningoencephalitis

Herpes Simplex Neuroinvasion

Herpetic Encephalitis

Herpetic Encephalopathy

Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis

Encephalitis Due To Herpesviridae

Encephalitis Due To Herpesvirus

Herpes Encephalitis

Herpesviral Encephalitis

Herpes Simplex Encephalitis

Hsv - [Herpes Simplex Virus] Encephalitis

Herpes Virus Encephalitis

Simian B Disease

Simian B Disorder

Encephalitis Nec

Idiopathic Encephalitis

Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Bos taurus TREX1 VGNC VGNC:36303
Mus musculus TREX1 MGD MGI:1328317
Felis catus TREX1 VGNC VGNC:66522
Macaca mulatta TREX1 VGNC VGNC:82708
Rattus norvegicus TREX1 RGD RGD:1311998