Variant position: 1279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1749 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 IFFNQ------------------GMGDSTLEFHSILSF GVESSIKYSNSIKEMVILFAT
Mouse VLFNQ------------------GMGDSTFEFHSILSF GVQ
Caenorhabditis elegans DTANT--SAGVLQFGAMEMSSATHMPASAESQMLMTTS PSQ
Drosophila SVSNILRLSGVV-----------GGLAQFERSVQLIKN PPR
Baker's yeast ANFSHKDVSLILSVHWANTISMLEIASRLEKPYSISFF RSR
Fission yeast TQSYNLNLLDVLQH---------TLRDSLKDIYTLNTG ADN
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
2 – 1749 E3 ubiquitin-protein ligase UBR1
804 – 1749 Missing. In isoform 2.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M.; Mayerle J.; Lerch M.M.; Tagariello A.; Zerres K.; Durie P.R.; Beier M.; Hulskamp G.; Guzman C.; Rehder H.; Beemer F.A.; Hamel B.C.J.; Vanlieferinghen P.; Gershoni-Baruch R.; Vieira M.W.; Dumic M.; Auslender R.; Gil-da-Silva-Lopes V.L.; Steinlicht S.; Rauh M.; Shalev S.A.; Thiel C.; Winterpacht A.; Kwon Y.T.; Varshavsky A.; Reis A.;
Nat. Genet. 37:1345-1350(2005)
Cited for: VARIANTS JBS ARG-136 AND SER-1279; FUNCTION; DISEASE; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE;
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.