UBR7 - ubiquitin protein ligase E3 component n-recognin 7 Gene

Also Known as LICAS; C14orf130

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55148

About UBR7

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:93,207,256-93,229,215 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 259 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 15.7), testis (RPKM 15.4) and 25 other tissues.

Summary

This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin Ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the Proteasome. [provided by RefSeq, Jul 2016]

UBR7 Products (1)

mRNA Protein Name
NM_175748.4 NP_786924.2 putative E3 ubiquitin-protein ligase UBR7

UBR7 Protein Structure

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (45 - 113)

  • 0
  • 100
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  • 400
  • 425 a.a.
Protein Preferred Names Protein Names

putative E3 ubiquitin-protein ligase UBR7

  • N-recognin-7

Related Diseases

Diseases Alias
Li-Campeau Syndrome

  • LICAS
Non-Specific Syndromic Intellectual Disability

  • Complex Neurodevelopmental Disorder
Ptosis

  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris
Johanson-Blizzard Syndrome

  • JBS

  • Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

  • Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

  • Johanson Blizzard Syndrome
Hypothyroidism

  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15391 UBR7 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus UBR7 MGD MGI:1913872
Bos taurus UBR7 VGNC VGNC:54252
Rattus norvegicus UBR7 RGD RGD:1359144
Canis familiaris UBR7 VGNC VGNC:54253
Macaca mulatta UBR7 VGNC VGNC:99338