The UBR1 gene homepage

General information
Gene symbol UBR1
Gene name ubiquitin protein ligase E3 component n-recognin 1
Chromosome 15
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_012182.1
Transcript reference NM_174916.2
Exon/intron information NM_174916.2 exon/intron table
Associated with diseases ID, JBS
Citation reference(s) PubMed: Zenker M et al.
PubMed: Sukalo M, Mayerle J, Zenker M
PubMed: Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M
Refseq URL Genomic reference sequence
Curators (2) Maja Sukalo and Martin Zenker, Prof. Dr. med.
Total number of public variants reported 132
Unique public DNA variants reported 101
Individuals with public variants 188
Hidden variants 14
Date created May 15, 2012
Date last updated September 17, 2021
Version UBR1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_174916.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 16808
Entrez Gene 197131
PubMed articles UBR1
OMIM - Gene 605981
OMIM - Diseases JBS (Johanson-Blizzard syndrome (JBS))
HGMD UBR1
GeneCards UBR1
GeneTests UBR1
Orphanet UBR1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000202 15 ubiquitin protein ligase E3 component n-recognin 1 NM_174916.2 NP_777576.1 132


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