UBR5 - ubiquitin protein ligase E3 component n-recognin 5 Gene

Homo sapiens

Also known as DD5; EDD; HYD; EDD1

Gene ID: 51366 | Gene type: protein coding

About UBR5

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:102,252,273-102,412,700 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues, 24 paralogues and is associated with 104 phenotypes. Ubiquitous expression in testis (RPKM 18.7), lymph node (RPKM 11.2) and 25 other tissues.

Summary

This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

UBR5 Products(2)

mRNA	Protein	Name
NM_001282873.2	NP_001269802.1	E3 ubiquitin-protein ligase UBR5 isoform 2
NM_015902.6	NP_056986.2	E3 ubiquitin-protein ligase UBR5 isoform 1

UBR5 Protein Structure

E3_UbLigase_EDD

zf-UBR

PABP

HECT

0
500
1000
1500
2000
2500
2799 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase UBR5

E3 identified by differential display

Related Diseases

Diseases

Alias

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

HH16	Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia

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

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15390	UBR5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UBR5	RGD	RGD:621236
Felis catus	UBR5	VGNC	VGNC:66788
Mus musculus	UBR5	MGD	MGI:1918040
Bos taurus	UBR5	VGNC	VGNC:36619
Canis familiaris	UBR5	VGNC	VGNC:48092
Macaca mulatta	UBR5	VGNC	VGNC:79050