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UBE4B ubiquitination factor E4B [ Homo sapiens (human) ]

Gene ID: 10277, updated on 9-Dec-2018

Summary

Official Symbol
UBE4Bprovided by HGNC
Official Full Name
ubiquitination factor E4Bprovided by HGNC
Primary source
HGNC:HGNC:12500
See related
Ensembl:ENSG00000130939 MIM:613565
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E4; UFD2; HDNB1; UBOX3; UFD2A
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]
Expression
Ubiquitous expression in thyroid (RPKM 12.1), skin (RPKM 10.9) and 25 other tissues See more
Orthologs

Genomic context

See UBE4B in Genome Data Viewer
Location:
1p36.22
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (10032958..10181239)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10093041..10241297)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nicotinamide nucleotide adenylyltransferase 1 Neighboring gene microRNA 5697 Neighboring gene retinol binding protein 7 Neighboring gene ribosomal protein L21 pseudogene 21 Neighboring gene phosphoglycerate mutase 1 pseudogene 11 Neighboring gene RNA, U6 small nuclear 828, pseudogene Neighboring gene kinesin family member 1B Neighboring gene RNA, U6 small nuclear 37, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.
NHGRI GWA Catalog

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0684

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-ubiquitin ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
granzyme-mediated apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein monoubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin ligase complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
ubiquitin conjugation factor E4 B
Names
RING-type E3 ubiquitin transferase E4 B
UFD2A-III/UBE4B-III splice isoform
homologous to yeast UFD2
homozygously deleted in neuroblastoma-1
ubiquitin-fusion degradation protein 2
ubiquitination factor E4B (UFD2 homolog, yeast)
NP_001099032.1
NP_006039.2
XP_005263479.1
XP_011538790.1
XP_011538791.1
XP_011538792.1
XP_016855524.1
XP_016855525.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001105562.3NP_001099032.1  ubiquitin conjugation factor E4 B isoform 1

    See identical proteins and their annotated locations for NP_001099032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB014584, AB028839, AF043117, AK292444, AL590639, BC093696, BQ001243
    Consensus CDS
    CCDS41245.1
    UniProtKB/Swiss-Prot
    O95155
    Related
    ENSP00000343001.6, ENST00000343090.10
    Conserved Domains (2) summary
    pfam04564
    Location:12281299
    U-box; U-box domain
    pfam10408
    Location:5911211
    Ufd2P_core; Ubiquitin elongating factor core
  2. NM_006048.4NP_006039.2  ubiquitin conjugation factor E4 B isoform 2

    See identical proteins and their annotated locations for NP_006039.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon in the middle region of the CDS, and thus encodes a shorter isoform (2), as compared to variant 1.
    Source sequence(s)
    AB014584, AB028839, AF043117, AK292444, AL590639, BC093696, BQ001243
    Consensus CDS
    CCDS110.1
    UniProtKB/Swiss-Prot
    O95155
    Related
    ENSP00000253251.8, ENST00000253251.12
    Conserved Domains (2) summary
    pfam04564
    Location:10991170
    U-box; U-box domain
    pfam10408
    Location:4621082
    Ufd2P_core; Ubiquitin elongating factor core

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    10032958..10181239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263422.2XP_005263479.1  ubiquitin conjugation factor E4 B isoform X1

    See identical proteins and their annotated locations for XP_005263479.1

    UniProtKB/Swiss-Prot
    O95155
    Conserved Domains (2) summary
    pfam04564
    Location:12791350
    U-box; U-box domain
    pfam10408
    Location:6421262
    Ufd2P_core; Ubiquitin elongating factor core
  2. XM_011540490.2XP_011538792.1  ubiquitin conjugation factor E4 B isoform X5

    Conserved Domains (1) summary
    pfam10408
    Location:6421162
    Ufd2P_core; Ubiquitin elongating factor core
  3. XM_011540489.3XP_011538791.1  ubiquitin conjugation factor E4 B isoform X4

    Conserved Domains (1) summary
    pfam10408
    Location:6421164
    Ufd2P_core; Ubiquitin elongating factor core
  4. XM_017000036.2XP_016855525.1  ubiquitin conjugation factor E4 B isoform X6

  5. XM_011540488.3XP_011538790.1  ubiquitin conjugation factor E4 B isoform X2

    Conserved Domains (2) summary
    pfam04564
    Location:11631234
    U-box; U-box domain
    pfam10408
    Location:5261146
    Ufd2P_core; Ubiquitin elongating factor core
  6. XM_017000035.2XP_016855524.1  ubiquitin conjugation factor E4 B isoform X3

RNA

  1. XR_001736907.2 RNA Sequence

  2. XR_946516.3 RNA Sequence

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