| Type | Description |
|---|---|
| Definition | ubiquitin protein ligase E3 component n-recognin 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-01-20 11:08:00 | UBR1 mutations of single or multi-exon deletions or duplications account for a substantial proportion of Johanson-Blizzard syndrome. | 29178640 |
| 2017-04-01 13:19:00 | The frequency of any non-synonymous or synonymous variants was not different between the patients with chronic pancreatitis and controls | 27397733 |
| 2015-10-31 10:23:00 | Reduced UBR1 expression affects MGMT turnover and DNA repair in the smokers lungs. | 26183928 |
| 2014-12-20 12:35:00 | For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD. | 24599544 |
| 2012-05-19 10:48:00 | Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1. | 21711208 |
| Type | IDs |
|---|---|
| Synonymous | JBS |
| Gene |
UniProtKB-ID:
UBR1_HUMAN
UniprotKB:
Q8IWV7
UniParc:
UPI0000074467,
UPI0000576830
EMBL:
BC113507,
AK027803,
AY061886,
AH006181,
AF061556,
CR749326,
BC113505,
AF525401
Ensembl:
ENSG00000159459
KO:
hsa:197131
|
| Nucleutide sequences |
EMBL-CDS:
AAC23677.1,
AAI13506.1,
AAI13508.1,
BAB55380.1,
AAC39845.1,
AAO14997.1,
AAL32103.1,
CAH18181.1
Ensembl_TRS:
ENST00000290650
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000290650
RefSeq:
NP_777576.1
|
| Others |
UniRef100:
UniRef100_Q8IWV7
UniRef90:
UniRef90_Q8IWV7
UniRef50:
UniRef50_Q8IWV7
UniGene:
Hs.591121
CCDS:
CCDS10091.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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