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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12011095	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	17897937	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	28689657	GOA
enables ubiquitin-ubiquitin ligase activity	IDA IDA: Inferred from direct assay	21118991	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	12011095	GOA
involved in DNA repair-dependent chromatin remodeling	IMP IMP: Inferred from mutant phenotype	22884692	GOA
involved in cytoplasm protein quality control	IDA IDA: Inferred from direct assay	29033132	GOA
involved in cytoplasm protein quality control by the ubiquitin-proteasome system	IDA IDA: Inferred from direct assay	29033132	GOA
involved in heterochromatin boundary formation	IMP IMP: Inferred from mutant phenotype	22884692	GOA
involved in nuclear protein quality control by the ubiquitin-proteasome system	IDA IDA: Inferred from direct assay	37478846	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	21118991	GOA
acts upstream of or within positive regulation of gene expression	IDA IDA: Inferred from direct assay	18076571	GOA
involved in positive regulation of protein import into nucleus	IMP IMP: Inferred from mutant phenotype	21118991	GOA
involved in progesterone receptor signaling pathway	IDA IDA: Inferred from direct assay	12011095	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	29378950	GOA
involved in protein K11-linked ubiquitination	IDA IDA: Inferred from direct assay	21118991	GOA
involved in protein K29-linked ubiquitination	IDA IDA: Inferred from direct assay	21118991	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	28689657	GOA
involved in protein branched polyubiquitination	IDA IDA: Inferred from direct assay	29033132	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	21118991	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	37478846	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	29033132	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	37478846	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12011095	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	18076571	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18076571	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.