Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 314 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TKDLP-PVKDPGALSREGLLA PLGLLAILTLAVATLYGLSLA
Mouse PKSPP-PEKVPEAPSQEGLLA PLSLLTLLTLAIATLYGLFL
Bovine PKPAPSPKMCPGAPPGEGLLA PLGLLAFLTLAVAMLYGLSL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 314 Three-prime repair exonuclease 1
236 – 314 Necessary for endoplasmic reticulum localization
243 – 314 Interaction with UBQLN1
281 – 314 Necessary for cytoplasmic retention
271 – 271 K -> R. Reduces ubiquitination. Strongly reduces ubiquitination; when associated with R-277.
277 – 277 K -> R. Reduces ubiquitination. Strongly reduces ubiquitination; when associated with R-271.
The TREX1 C-terminal region controls cellular localization through ubiquitination.
Orebaugh C.D.; Fye J.M.; Harvey S.; Hollis T.; Wilkinson J.C.; Perrino F.W.;
J. Biol. Chem. 288:28881-28892(2013)
Cited for: INTERACTION WITH UBQLN1; UBIQUITINATION; CHARACTERIZATION OF VARIANTS AGS1 ALA-122; LYS-198; ASN-200 AND PRO-303; CHARACTERIZATION OF VARIANTS SLE LEU-290 AND CYS-305; MUTAGENESIS OF LYS-30; LYS-66; LYS-75; LYS-160; LYS-175; LYS-242; LYS-271 AND LYS-277;
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch M.A.; Gong M.; Chowdhury D.; Senenko L.; Engel K.; Lee Y.A.; de Silva U.; Bailey S.L.; Witte T.; Vyse T.J.; Kere J.; Pfeiffer C.; Harvey S.; Wong A.; Koskenmies S.; Hummel O.; Rohde K.; Schmidt R.E.; Dominiczak A.F.; Gahr M.; Hollis T.; Perrino F.W.; Lieberman J.; Huebner N.;
Nat. Genet. 39:1065-1067(2007)
Cited for: VARIANTS SLE HIS-114; VAL-158; SER-227; SER-240; PRO-247; LEU-290; CYS-305 AND ALA-306; VARIANT GLY-266;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.