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  2. UBE4B - ubiquitination factor E4B Gene

UBE4B - ubiquitination factor E4B Gene

Homo sapiens

Also known as E4; UFD2; HDNB1; UBOX3; UFD2A

Gene ID: 10277 | Gene type: protein coding

About UBE4B

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,032,958-10,181,239 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 12.1), skin (RPKM 10.9) and 25 other tissues.

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating Enzymes, or E1s, ubiquitin-conjugating Enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UBE4B Products(3)

mRNA Protein Name
NM_001105562.3 NP_001099032.1 ubiquitin conjugation factor E4 B isoform 1
NM_001410744.1 NP_001397673.1 ubiquitin conjugation factor E4 B isoform 3
NM_006048.5 NP_006039.2 ubiquitin conjugation factor E4 B isoform 2

UBE4B Protein Structure

Ufd2P_core

Ufd2P_core: Ubiquitin elongating factor core (591 - 1213)

U-box

U-box: U-box domain (1228 - 1299)

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  • 1302 a.a.
Protein Preferred Names Protein Names

ubiquitin conjugation factor E4 B

RING-type E3 ubiquitin transferase E4 B

Related Diseases

Diseases Alias
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Neuroblastoma 1

Neuroblastoma, Susceptibility To, 1

NBLST1

Neuroblastoma, Susceptibility To, Type 1

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Complement Component 7 Deficiency

C7 Deficiency

C7D

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

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

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
Canis familiaris UBE4B VGNC VGNC:48073
Bos taurus UBE4B VGNC VGNC:36604
Rattus norvegicus UBE4B RGD RGD:1304738
Mus musculus UBE4B MGD MGI:1927086
Felis catus UBE4B VGNC VGNC:66772
Macaca mulatta UBE4B VGNC VGNC:78700