1. Gene
  2. UBR4 - ubiquitin protein ligase E3 component n-recognin 4 Gene

UBR4 - ubiquitin protein ligase E3 component n-recognin 4 Gene

Homo sapiens

Also known as p600; ZUBR1; RBAF600

Gene ID: 23352 | Gene type: protein coding

About UBR4

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:19,074,510-19,210,266 (from NCBI)

This gene has 17 transcripts (splice variants) and 228 orthologues. Ubiquitous expression in testis (RPKM 21.2), bone marrow (RPKM 14.0) and 25 other tissues.

Summary

The protein encoded by this gene is an E3 ubiquitin-protein Ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound Calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]

UBR4 Products(1)

mRNA Protein Name
NM_020765.3 NP_065816.2 E3 ubiquitin-protein ligase UBR4

UBR4 Protein Structure

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (1661 - 1721)

E3_UbLigase_R4

E3_UbLigase_R4: E3 ubiquitin-protein ligase UBR4 (4367 - 5163)

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  • 5183 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase UBR4

N-recognin-4

Related Diseases

Diseases Alias
Rift Valley Fever

Rfv - [Rift Valley Fever]

Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Episodic Ataxia, Type 4

Episodic Ataxia Type 4

Periodic Vestibulocerebellar Ataxia

Patx

EA4

Ataxia, Periodic Vestibulocerebellar

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

Episodic Ataxia, Type 3

Episodic Ataxia Type 3

EA3

Ataxia, Episodic, With Vertigo And Tinnitus

Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome

Episodic Ataxia, Type 7

Episodic Ataxia Type 7

EA7

Episodic Ataxia, Type 5

Episodic Ataxia Type 5

EA5

Episodic Ataxia 5

Ea-5

Ataxia, Episodic, Type 5

Severe Congenital Neutropenia 4

Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency

Scn4

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

Dursun Syndrome

Severe Congenital Neutropenia Type 4

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus UBR4 RGD RGD:1563121
Mus musculus UBR4 MGD MGI:1916366
Felis catus UBR4 VGNC VGNC:66787
Macaca mulatta UBR4 VGNC VGNC:79845
Bos taurus UBR4 VGNC VGNC:36618
Canis familiaris UBR4 VGNC VGNC:48091