UBE4A - ubiquitination factor E4A Gene

Also Known as E4; UFD2; UBOX2; NEDHMS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9354

About UBE4A

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,359,600-118,399,211 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 15.5), appendix (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a member of the U-box ubiquitin Ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

UBE4A Products (2)

mRNA Protein Name
NM_001204077.2 NP_001191006.1 ubiquitin conjugation factor E4 A isoform 2
NM_004788.4 NP_004779.2 ubiquitin conjugation factor E4 A isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21903422 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

UBE4A Protein Structure

Ufd2P_core

Ufd2P_core: Ubiquitin elongating factor core (330 - 972)

U-box

U-box: U-box domain (988 - 1059)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1066 a.a.
Protein Preferred Names Protein Names

ubiquitin conjugation factor E4 A

  • RING-type E3 ubiquitin transferase E4 A

UBE4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UBE4A Q14139 IP6K1 Homo sapiens Q92551
Anti Tag CoIP
33961781
Intra
UBE4A Q14139 IP6K1 Homo sapiens Q92551
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

UBE4A Antibodies

Cat. No. Product Name Application Reactivity
HY-P87136 Ube4A Antibody (YA6829) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay

  • NEDHMS

  • Neurodevelopmental Disorder With Hypotonia And Gross Motor And Seech Delay
Autosomal Recessive Non-Syndromic Intellectual Disability

  • Ar-Nsid

  • Ns-Arid
Rare Pervasive Developmental Disorder

  • Rare Asd

  • Rare Pdd

  • Rare Autism Spectrum Disorder
Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Pervasive Developmental Disorders

  • Pervasive Child Development Disorders

  • Autistic Behavior

  • Autism Spectrum Disorders
Crohn'S Disease

  • Crohn Disease

  • Pediatric Crohn'S Disease

  • Regional Enteritis

  • Crohn'S Disease Of Large Bowel

  • Granulomatous Colitis

  • Enteritis, Granulomatous

  • Enteritis

  • Crohn'S Disease Of Colon

  • Colitis, Granulomatous

  • Crohn'S Enteritis

  • Enteritis, Regional

  • Ileitis

  • Adenoviral Enteritis

  • Acute Gastroenteropathy Due To Norwalk Agent

  • Viral Gastroenteritis Due To Norwalk Agent

  • Winter Vomiting

  • Epidemic Winter Vomiting Disease

  • Small Round Structured Virus Enteritis

  • Epidemic Vomiting Syndrome

  • Epidemic Vomiting

  • Epidemic Nausea

  • Epidemic Viral Gastroenteritis Due To Norwalk Virus

  • Noroviral Enteritis

  • Crohn Disease Nos

  • Crohns

  • Cd - [Crohn'S Disease]

  • Regional Enteritis Of Bowel

  • Crohn'S Regional Enteritis

  • Cobble-Stone Appearance Of Intestine

  • Intestinal Ulcer And Erosion Due To Crohn Disease

  • Granulomatous Enteritis
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
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Nonaka Myopathy

  • Gne Myopathy

  • Hibm

  • Distal Myopathy With Rimmed Vacuoles

  • Hereditary Inclusion Body Myopathy

  • Ibm2

  • Inclusion Body Myopathy, Quadriceps-Sparing

  • Qsm

  • Dmrv

  • Distal Myopathy, Nonaka Type

  • Inclusion Body Myopathy 2

  • Inclusion Body Myopathy, Autosomal Recessive

  • NM

  • Nonaka Distal Myopathy

  • Myopathy, Distal, With Or Without Rimmed Vacuoles

  • Inclusion Body Myopathy, Hereditary, Autosomal Recessive

  • Inclusion Body Myopathy Type 2

  • Quadriceps-Sparing Myopathy

  • Quadriceps Sparing Myopathy

  • Rimmed Vacuole Myopathy

  • Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

  • Ibm2, Formerly

  • Hibm2

  • Hereditary Inclusion Body Myopathy Type 2

  • Inclusion Body Myopathy 2, Autosomal Recessive

  • Myopathy, Distal, With Rimmed Vacuoles

  • Inclusion Body Myopathy Autosomal Recessive

  • Myopathy, Inclusion Body, Type 2

  • Myopathy, Nonaka
Cystadenocarcinoma
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-RS15371 UBE4A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus UBE4A VGNC VGNC:36603
Felis catus UBE4A VGNC VGNC:66771
Canis familiaris UBE4A VGNC VGNC:48072
Rattus norvegicus UBE4A RGD RGD:1303173
Macaca mulatta UBE4A VGNC VGNC:78699
Mus musculus UBE4A MGD MGI:2154580
Others UBE4A NCBI