UBR1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- UBR1 (HGNC:16808) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ubiquitin protein ligase E3 component n-recognin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 21.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.96(Read more about gnomAD pLI score)
- LOEUF
- 0.47(Read more about gnomAD LOEUF score)
- Cytoband
- 15q15.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:43235095-43398236 NCBI Ensembl UCSC GRCh38/hg38: chr15:42942897-43106038 NCBI Ensembl UCSC - MANE Select Transcript
- NM_174916.3 ENST00000290650.9 (Read more about MANE Select)
- Function
- E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. {ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:16311597, ECO:0000269|PubMed:202984... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22028
ClinGen Curation ID:
CCID:008080
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Johanson-Blizzard syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)