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Gene : UBR1 Homo sapiens

Name  ? ubiquitin protein ligase E3 component n-recognin 1 Cytological Location  15q15.2
Brief Description  ubiquitin protein ligase E3 component n-recognin 1
description  The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • JBS,
  • HGNC:16808,
  • UBR1,
  • OTTHUMG00000130702,
  • NM_174916,
  • uc001zqq.4
  • identifiers:
  • 197131,
  • ENSG00000159459,
  • UBR1

Genome feature

Region: gene ? Length: 163192  
Location: 15:42942897-43106088 reverse strand Cyto location: 15q15.2


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Function

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

83 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results