KEGG   Homo sapiens (human): 11277
Entry
11277             CDS       T01001                                 

Gene name
TREX1, AGS1, CRV, DRN3, HERNS
Definition
(RefSeq) three prime repair exonuclease 1
  KO
K10790  three prime repair exonuclease 1 [EC:3.1.11.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04623  Cytosolic DNA-sensing pathway
Disease
H00290  Aicardi-Goutieres syndrome
H00291  Familial chilblain lupus (FCL)
H01000  Retinal vasculopathy with cerebral leukodystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04623 Cytosolic DNA-sensing pathway
    11277 (TREX1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    11277 (TREX1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.11  Exodeoxyribonucleases producing 5'-phosphomonoesters
    3.1.11.2  exodeoxyribonuclease III
     11277 (TREX1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Other factors with a suspected DNA repair function
   Nucleases
    11277 (TREX1)
SSDB
Motif
Pfam: DUF2733 RNase_T
Other DBs
NCBI-GeneID: 11277
NCBI-ProteinID: NP_338599
OMIM: 606609
HGNC: 12269
Ensembl: ENSG00000213689
Vega: OTTHUMG00000156205 OTTHUMG00000190127
Pharos: Q9NSU2(Tbio)
UniProt: Q9NSU2
Position
3p21.31
AA seq 314 aa
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPP
PRVVDKLSLCVAPGKACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWC
LVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSEHGPRKSYSLG
SIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLA
VATLYGLSLATPGE
NT seq 945 nt   +upstreamnt  +downstreamnt
atgggctcgcaggccctgcccccggggcccatgcagaccctcatctttttcgacatggag
gccactggcttgcccttctcccagcccaaggtcacggagctgtgcctgctggctgtccac
agatgtgccctggagagcccccccacctctcaggggccacctcccacagttcctccacca
ccgcgtgtggtagacaagctctccctgtgtgtggctccggggaaggcctgcagccctgca
gccagcgagatcacaggtctgagcacagctgtgctggcagcgcatgggcgtcaatgtttt
gatgacaacctggccaacctgctcctagccttcctgcggcgccagccacagccctggtgc
ctggtggcacacaatggtgaccgctacgacttccccctgctccaagcagagctggctatg
ctgggcctcaccagtgctctggatggtgccttctgtgtggatagcatcactgcgctgaag
gccctggagcgagcaagcagcccctcagaacacggcccaaggaagagctatagcctaggc
agcatctacactcgcctgtatgggcagtcccctccagactcgcacacggctgagggtgat
gtcctggccctgctcagcatctgtcagtggagaccacaggccctgctgcggtgggtggat
gctcacgccaggcctttcggcaccatcaggcccatgtatggggtcacagcctctgctagg
accaagccaagaccatctgctgtcacaaccactgcacacctggccacaaccaggaacact
agtcccagccttggagagagcaggggtaccaaggatcttcctccagtgaaggaccctgga
gccctatccagggaggggctgctggccccactgggtctgctggccatcctgaccttggca
gtagccacactgtatggactatccctggccacacctggggagtag

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
   PHAROS (1)   
   VEGA (2)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (31)   
   RefSeq(nuc) (5)   
   GenBank (13)   
   EMBL (13)   
Protein domain (2)   
   Pfam (2)   
All databases (72)   

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