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

Homo sapiens

Also known as LICAS; C14orf130

Gene ID: 55148 | Gene type: protein coding

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

0
100
200
300
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15391	UBR7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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