TREX1 - three prime repair exonuclease 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11277

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

TREX1 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P81987	TREX1 Antibody (YA1732)	WB, IHC-F, IHC-P, ICC/IF	Human
HY-P81987A	TREX1 Antibody (YA1732)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-160785	TREX1-IN-1	Modulator	99.32%	Unkown
HY-RS15008	TREX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-160786	TREX1-IN-3	Inhibitor	/	Unkown
HY-160786A	TREX1-IN-4	Inhibitor	/	Unkown
HY-184502	DDO-88109	Inhibitor	/	Unkown
HY-RS17776	Trex1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24243	Trex1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-P991989	MRG004A Antibody		95.44%	Unkown

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
Others	TREX1	NCBI