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 ... See more...

Aliases for UBE4B Gene

Aliases for UBE4B Gene

  • Ubiquitination Factor E4B 2 3 5
  • Ubiquitination Factor E4B (UFD2 Homolog, Yeast) 2 3
  • RING-Type E3 Ubiquitin Transferase E4 B 3 4
  • Ubiquitin Conjugation Factor E4 B 3 4
  • HDNB1 3 4
  • UFD2 3 4
  • Ubiquitination Factor E4B (Homologous To Yeast UFD2) 2
  • Homozygously Deleted In Neuroblastoma-1 3
  • Homozygously Deleted In Neuroblastoma 1 4
  • Ubiquitin-Fusion Degradation Protein 2 3
  • Ubiquitin Fusion Degradation Protein 2 4
  • UFD2A-III/UBE4B-III Splice Isoform 3
  • Homologous To Yeast UFD2 3
  • EC 2.3.2.27 4
  • KIAA0684 4
  • UBOX3 3
  • UFD2A 3
  • E4 3

External Ids for UBE4B Gene

Previous GeneCards Identifiers for UBE4B Gene

  • GC01P010054
  • GC01P009937
  • GC01P009702
  • GC01P009803
  • GC01P009802
  • GC01P010027
  • GC01P010092
  • GC01P009247

Summaries for UBE4B Gene

Entrez Gene Summary for UBE4B Gene

  • 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]

GeneCards Summary for UBE4B Gene

UBE4B (Ubiquitination Factor E4B) is a Protein Coding gene. Diseases associated with UBE4B include Deafness, Autosomal Dominant 25 and Wallerian Degeneration. Among its related pathways are Ubiquitin mediated proteolysis and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include enzyme binding and ubiquitin-protein transferase activity. An important paralog of this gene is UBE4A.

UniProtKB/Swiss-Prot Summary for UBE4B Gene

  • Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820).

Gene Wiki entry for UBE4B Gene

Additional gene information for UBE4B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE4B Gene

Genomics for UBE4B Gene

GeneHancer (GH) Regulatory Elements for UBE4B Gene

Promoters and enhancers for UBE4B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBE4B gene promoter:
  • CREB
  • deltaCREB
  • E47
  • FOXC1
  • Hand1
  • MAZR
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Sp1

Genomic Locations for UBE4B Gene

Genomic Locations for UBE4B Gene
chr1:10,032,832-10,181,239
(GRCh38/hg38)
Size:
148,408 bases
Orientation:
Plus strand
chr1:10,092,890-10,241,297
(GRCh37/hg19)
Size:
148,408 bases
Orientation:
Plus strand

Genomic View for UBE4B Gene

Genes around UBE4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE4B Gene

Proteins for UBE4B Gene

  • Protein details for UBE4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95155-UBE4B_HUMAN
    Recommended name:
    Ubiquitin conjugation factor E4 B
    Protein Accession:
    O95155
    Secondary Accessions:
    • A8K8S9
    • G0ZJH6
    • O75169
    • O95338
    • Q5SZ12
    • Q5SZ16
    • Q96QD4
    • Q9BYI7

    Protein attributes for UBE4B Gene

    Size:
    1302 amino acids
    Molecular mass:
    146185 Da
    Quaternary structure:
    • Interacts with VCP/p97. Interacts with STUB1/CHIP and UNC45B.
    SequenceCaution:
    • Sequence=BAA31659.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBE4B Gene

    Alternative splice isoforms for UBE4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE4B Gene

Post-translational modifications for UBE4B Gene

  • Proteolytically cleaved by caspases during apoptosis. Cleaved efficiently at Asp-123 by caspase-6 and granzyme B. Cleaved with approximately 10-fold less efficiency at Asp-109 by caspase-3 and caspase-7.
  • Ubiquitination at Lys610, Lys794, Lys801, Lys951, Lys964, Lys989, Lys1106, and Lys1189
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBE4B Gene

Domains & Families for UBE4B Gene

Gene Families for UBE4B Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UBE4B Gene

Suggested Antigen Peptide Sequences for UBE4B Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin fusion degradation protein 2 (UBE4B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95155

UniProtKB/Swiss-Prot:

UBE4B_HUMAN :
  • The U-box domain is required for the ubiquitin protein ligase activity.
  • Belongs to the ubiquitin conjugation factor E4 family.
Domain:
  • The U-box domain is required for the ubiquitin protein ligase activity.
Family:
  • Belongs to the ubiquitin conjugation factor E4 family.
genes like me logo Genes that share domains with UBE4B: view

Function for UBE4B Gene

Molecular function for UBE4B Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=. ;.
GENATLAS Biochemistry:
ubiquitination factor E4B (homologous to yeast UFD2),cDNA sequence,expressed in brain,required in 4A,related to Drosophila NOSA

Enzyme Numbers (IUBMB) for UBE4B Gene

Phenotypes From GWAS Catalog for UBE4B Gene

Gene Ontology (GO) - Molecular Function for UBE4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI --
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0019899 enzyme binding IEA,ISS --
genes like me logo Genes that share ontologies with UBE4B: view
genes like me logo Genes that share phenotypes with UBE4B: view

Animal Models for UBE4B Gene

MGI Knock Outs for UBE4B:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for UBE4B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE4B Gene

Localization for UBE4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE4B Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE4B gene
Compartment Confidence
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UBE4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex TAS 11802788
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,ISS --
genes like me logo Genes that share ontologies with UBE4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UBE4B Gene

Pathways & Interactions for UBE4B Gene

genes like me logo Genes that share pathways with UBE4B: view

Pathways by source for UBE4B Gene

UniProtKB/Swiss-Prot O95155-UBE4B_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA,IBA 21873635
GO:0003222 ventricular trabecula myocardium morphogenesis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process TAS,IEA 11802788
GO:0006513 protein monoubiquitination IEA --
GO:0008626 granzyme-mediated apoptotic signaling pathway IDA 11802788
genes like me logo Genes that share ontologies with UBE4B: view

No data available for SIGNOR curated interactions for UBE4B Gene

Drugs & Compounds for UBE4B Gene

(3) Drugs for UBE4B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for UBE4B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UBE4B: view

Transcripts for UBE4B Gene

mRNA/cDNA for UBE4B Gene

CRISPR Products

Clone Products

  • Addgene plasmids for UBE4B

Alternative Splicing Database (ASD) splice patterns (SP) for UBE4B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12: -

ExUns: 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for UBE4B Gene

GeneLoc Exon Structure for
UBE4B
ECgene alternative splicing isoforms for
UBE4B

Expression for UBE4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBE4B Gene

This gene is overexpressed in Lymph node (7.7) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE4B Gene



Protein tissue co-expression partners for UBE4B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBE4B Gene:

UBE4B

SOURCE GeneReport for Unigene cluster for UBE4B Gene:

Hs.593974

mRNA Expression by UniProt/SwissProt for UBE4B Gene:

O95155-UBE4B_HUMAN
Tissue specificity: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highest expression in ovary, testis, heart and skeletal muscle (PubMed:11802788). Expression is low in colon, thymus and peripheral blood leukocytes (PubMed:11802788). Almost undetectable in lung and spleen (PubMed:11802788).

Evidence on tissue expression from TISSUES for UBE4B Gene

  • Nervous system(4.8)
  • Muscle(4.4)
  • Liver(4.2)
  • Lung(3.2)
genes like me logo Genes that share expression patterns with UBE4B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE4B Gene

Orthologs for UBE4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE4B 33 32
  • 99.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 97 (a)
OneToMany
-- 33
  • 94 (a)
OneToMany
-- 33
  • 90 (a)
OneToMany
-- 33
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia UBE4B 33 32
  • 91.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBE4B 33 32
  • 90.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ube4b 17 33 32
  • 89.64 (n)
rat
(Rattus norvegicus)
Mammalia Ube4b 32
  • 89.56 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE4B 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE4B 33 32
  • 79.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE4B 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube4b 32
  • 76.2 (n)
Str.16539 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.3889 32
zebrafish
(Danio rerio)
Actinopterygii ube4b 33 32 32
  • 73.66 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007870 32
  • 51.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9934 33 34 32
  • 50.49 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ufd-2 33 32
  • 44.84 (n)
OneToOne
T05H10.5a 34
  • 29 (a)
T05H10.5b 34
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD2 35 33 32
  • 45.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR096C 32
  • 44.02 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05269g 32
  • 43.41 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G15400 32
  • 44.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4101 33
  • 62 (a)
OneToMany
-- 33
  • 54 (a)
OneToMany
Cin.5759 32
bread mold
(Neurospora crassa)
Ascomycetes NCU03357 32
  • 44.08 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ufd2 32
  • 43.71 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5759 32
Species where no ortholog for UBE4B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE4B Gene

ENSEMBL:
Gene Tree for UBE4B (if available)
TreeFam:
Gene Tree for UBE4B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE4B: view image

Paralogs for UBE4B Gene

Paralogs for UBE4B Gene

genes like me logo Genes that share paralogs with UBE4B: view

Variants for UBE4B Gene

Sequence variations from dbSNP and Humsavar for UBE4B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000017579 -- 10,108,318(+) C/G/T intron_variant
rs1000021108 -- 10,033,425(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000031579 -- 10,088,462(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000092755 -- 10,044,387(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000117606 -- 10,156,521(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UBE4B Gene

Variant ID Type Subtype PubMed ID
dgv12e199 CNV deletion 23128226
dgv15e212 CNV loss 25503493
esv2562286 CNV deletion 19546169
esv2668231 CNV deletion 23128226
esv2758920 CNV gain+loss 17122850
esv3544010 CNV deletion 23714750
esv3577728 CNV loss 25503493
esv3585195 CNV loss 21293372
esv3890748 CNV gain 25118596
nsv1001742 CNV gain 25217958
nsv1145319 CNV deletion 24896259
nsv522629 CNV gain 19592680
nsv525216 CNV gain 19592680
nsv527217 CNV gain 19592680
nsv945766 CNV duplication 23825009

Variation tolerance for UBE4B Gene

Residual Variation Intolerance Score: 7.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE4B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE4B Gene

Disorders for UBE4B Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBE4B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
neuroblastoma 1
  • neuroblastoma, susceptibility to, 1
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBE4B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBE4B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UBE4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE4B Gene

Publications for UBE4B Gene

  1. The human homologue of the yeast polyubiquitination factor Ufd2p is cleaved by caspase 6 and granzyme B during apoptosis. (PMID: 11802788) Mahoney JA … Rosen A (The Biochemical journal 2002) 3 4 23 56
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  3. A novel conserved isoform of the ubiquitin ligase UFD2a/UBE4B is expressed exclusively in mature striated muscle cells. (PMID: 22174917) Mammen AL … Spinette S (PloS one 2011) 3 4 56
  4. Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. (PMID: 20676096) Zhang H … Zhou G (Nature genetics 2010) 3 43 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56

Products for UBE4B Gene

Sources for UBE4B Gene