KEGG   Homo sapiens (human): 11277Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DUF2733 RNase_T
Motif
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 AA seqDB search
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPP
PRVVDKLSLCVAPGKACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWC
LVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSEHGPRKSYSLG
SIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLA
VATLYGLSLATPGE
NT seq 945 nt NT seq  +upstreamnt  +downstreamnt
atgggctcgcaggccctgcccccggggcccatgcagaccctcatctttttcgacatggag
gccactggcttgcccttctcccagcccaaggtcacggagctgtgcctgctggctgtccac
agatgtgccctggagagcccccccacctctcaggggccacctcccacagttcctccacca
ccgcgtgtggtagacaagctctccctgtgtgtggctccggggaaggcctgcagccctgca
gccagcgagatcacaggtctgagcacagctgtgctggcagcgcatgggcgtcaatgtttt
gatgacaacctggccaacctgctcctagccttcctgcggcgccagccacagccctggtgc
ctggtggcacacaatggtgaccgctacgacttccccctgctccaagcagagctggctatg
ctgggcctcaccagtgctctggatggtgccttctgtgtggatagcatcactgcgctgaag
gccctggagcgagcaagcagcccctcagaacacggcccaaggaagagctatagcctaggc
agcatctacactcgcctgtatgggcagtcccctccagactcgcacacggctgagggtgat
gtcctggccctgctcagcatctgtcagtggagaccacaggccctgctgcggtgggtggat
gctcacgccaggcctttcggcaccatcaggcccatgtatggggtcacagcctctgctagg
accaagccaagaccatctgctgtcacaaccactgcacacctggccacaaccaggaacact
agtcccagccttggagagagcaggggtaccaaggatcttcctccagtgaaggaccctgga
gccctatccagggaggggctgctggccccactgggtctgctggccatcctgaccttggca
gtagccacactgtatggactatccctggccacacctggggagtag

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