Variant position: 204 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 307 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 YCAFNNWGSVEEQRQQQAEL LAVIERLGREREGSFHSNDLF
Mouse YCAFNNRASGEEQQGQLAEL MALVRRLEQECEGSFHSNDLF
Rat YCAFNNKASGEEQQGQLAEL MALVRRLEQEHEGSFHSNDLF
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 – 307 GTPase IMAP family member 5
1 – 284 Cytoplasmic
25 – 228 AIG1-type G
189 – 189 GTP
Gimap5-dependent inactivation of GSK3beta is required for CD4+ T cell homeostasis and prevention of immune pathology.
Patterson A.R.; Endale M.; Lampe K.; Aksoylar H.I.; Flagg A.; Woodgett J.R.; Hildeman D.; Jordan M.B.; Singh H.; Kucuk Z.; Bleesing J.; Hoebe K.;
Nat. Commun. 9:430-430(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT PRO-204; CHARACTERIZATION OF VARIANT PRO-204;
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.
Drzewiecki K.; Choi J.; Brancale J.; Leney-Greene M.A.; Sari S.; Dalgic B.; Uenluesoy Aksu A.; Evirgen Sahin G.; Ozen A.; Baris S.; Karakoc-Aydiner E.; Jain D.; Kleiner D.; Schmalz M.; Radhakrishnan K.; Zhang J.; Hoebe K.; Su H.C.; Pereira J.P.; Lenardo M.J.; Lifton R.P.; Vilarinho S.;
J. Exp. Med. 218:0-0(2021)
Cited for: VARIANTS NCPH2 THR-47; LEU-109; PRO-204 AND PHE-223; INVOLVEMENT IN NCPH2;
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.