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Aliases for UBE4A Gene

Aliases for UBE4A Gene

  • Ubiquitination Factor E4A 2 3 5
  • Ubiquitination Factor E4A (UFD2 Homolog, Yeast) 2 3
  • RING-Type E3 Ubiquitin Transferase E4 A 3 4
  • Ubiquitination Factor E4A (Homologous To Yeast UFD2) 2
  • Ubiquitin Conjugation Factor E4 A 3
  • EC 2.3.2.27 4
  • KIAA0126 4
  • UBOX2 3
  • UFD2 3
  • E4 3

External Ids for UBE4A Gene

Previous GeneCards Identifiers for UBE4A Gene

  • GC11P120587
  • GC11P119742
  • GC11P118264
  • GC11P117767
  • GC11P117735
  • GC11P114164

Summaries for UBE4A Gene

Entrez Gene Summary for UBE4A Gene

  • 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]

GeneCards Summary for UBE4A Gene

UBE4A (Ubiquitination Factor E4A) is a Protein Coding gene. Diseases associated with UBE4A include Ovarian Serous Cystadenocarcinoma and Ovary Serous Adenocarcinoma. Among its related pathways are Class I MHC mediated antigen processing and presentation and Ubiquitin mediated proteolysis. GO annotations related to this gene include ligase activity and ubiquitin-ubiquitin ligase activity. An important paralog of this gene is UBE4B.

UniProtKB/Swiss-Prot for UBE4A Gene

  • Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates Lys-48-linked polyubiquitination of substrates.

Gene Wiki entry for UBE4A Gene

Additional gene information for UBE4A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE4A Gene

Genomics for UBE4A Gene

Regulatory Elements for UBE4A Gene

Enhancers for UBE4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H117809 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37 -550.0 -549954 0 HDGF ARNT YBX1 ZNF2 ZBTB7B ZNF207 NCOA1 REST SNIP1 MEF2D UBE4A ARCN1 DSCAML1 KMT2A SIDT2 FXYD2 MPZL2 RNF214 RPS27P19 DDX6
GH11H119090 1.6 Ensembl ENCODE dbSUPER 38.3 +734.1 734091 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 HINFP KMT2A VPS11 RPL5P30 CCDC84 UBE4A BCL9L ARCN1 IFT46 RNF26
GH11H118238 2 FANTOM5 Ensembl ENCODE dbSUPER 29.8 -119.0 -119020 5 FOXA2 PKNOX1 ARNT SIN3A YY1 ZNF766 ZNF207 FOS ZC3H11A JUNB ENSG00000254909 JAML RPL23AP64 UBE4A ENSG00000254428 BCL9L MPZL3 ARCN1 DPAGT1 CD3E
GH11H118906 2.1 FANTOM5 Ensembl ENCODE dbSUPER 28.2 +559.2 559212 24 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 DPAGT1 UBE4A ENSG00000254909 BCL9L RPL23AP64 ARCN1 ENSG00000245869 ENSG00000254428 VPS11 RNF26
GH11H118874 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +517.8 517765 5 HDAC1 HDGF PKNOX1 ZBTB7B ZNF766 GATA2 ZNF366 ZNF207 ATF7 ETV6 BCL9L DDX6 ENSG00000254909 UBE4A ARCN1 RPL23AP64 ENSG00000254428 MPZL2 DPAGT1 RPS25
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBE4A on UCSC Golden Path with GeneCards custom track

Promoters for UBE4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045621 220 1600 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF766

Genomic Location for UBE4A Gene

Chromosome:
11
Start:
118,359,581 bp from pter
End:
118,399,211 bp from pter
Size:
39,631 bases
Orientation:
Plus strand

Genomic View for UBE4A Gene

Genes around UBE4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE4A Gene

Proteins for UBE4A Gene

  • Protein details for UBE4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14139-UBE4A_HUMAN
    Recommended name:
    Ubiquitin conjugation factor E4 A
    Protein Accession:
    Q14139
    Secondary Accessions:
    • B0YJB6
    • Q2M1H0
    • Q6P5T4
    • Q7Z639

    Protein attributes for UBE4A Gene

    Size:
    1066 amino acids
    Molecular mass:
    122561 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH52643.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH62695.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA09475.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBE4A Gene

    Alternative splice isoforms for UBE4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE4A Gene

Post-translational modifications for UBE4A Gene

  • Ubiquitination at Lys104, Lys468, posLast=531531, Lys679, Lys741, posLast=766766, and posLast=774774
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE4A Gene

No data available for DME Specific Peptides for UBE4A Gene

Domains & Families for UBE4A Gene

Gene Families for UBE4A Gene

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

Protein Domains for UBE4A Gene

Graphical View of Domain Structure for InterPro Entry

Q14139

UniProtKB/Swiss-Prot:

UBE4A_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 UBE4A: view

Function for UBE4A Gene

Molecular function for UBE4A Gene

GENATLAS Biochemistry:
ubiquitination factor E4A,homologous to yeast UFD2,expressed in brain,required for multiubiquitin chain assembly,in association with E1,E2,E3,related to Drosophila NOSA
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates Lys-48-linked polyubiquitination of substrates.

Enzyme Numbers (IUBMB) for UBE4A Gene

Phenotypes From GWAS Catalog for UBE4A Gene

Gene Ontology (GO) - Molecular Function for UBE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 21903422
GO:0016740 transferase activity IEA --
GO:0034450 ubiquitin-ubiquitin ligase activity IBA,IEA --
genes like me logo Genes that share ontologies with UBE4A: view
genes like me logo Genes that share phenotypes with UBE4A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBE4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBE4A Gene

Localization for UBE4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE4A Gene

Cytoplasm.

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 UBE4A gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with UBE4A: view

Pathways & Interactions for UBE4A Gene

genes like me logo Genes that share pathways with UBE4A: view

UniProtKB/Swiss-Prot Q14139-UBE4A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA,TAS 10089879
GO:0016567 protein ubiquitination IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with UBE4A: view

No data available for SIGNOR curated interactions for UBE4A Gene

Drugs & Compounds for UBE4A Gene

(3) Drugs for UBE4A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(1) Additional Compounds for UBE4A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBE4A: view

Transcripts for UBE4A Gene

Unigene Clusters for UBE4A Gene

Ubiquitination factor E4A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBE4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UBE4A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for UBE4A Gene

GeneLoc Exon Structure for
UBE4A
ECgene alternative splicing isoforms for
UBE4A

Expression for UBE4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBE4A Gene

This gene is overexpressed in Bone (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBE4A Gene



Protein tissue co-expression partners for UBE4A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBE4A Gene:

UBE4A

SOURCE GeneReport for Unigene cluster for UBE4A Gene:

Hs.75275

Evidence on tissue expression from TISSUES for UBE4A Gene

  • Blood(4.2)
  • Bone marrow(4.2)
  • Nervous system(4)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with UBE4A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE4A Gene

Orthologs for UBE4A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBE4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE4A 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia UBE4A 33 34
  • 95.06 (n)
cow
(Bos Taurus)
Mammalia UBE4A 33 34
  • 93.43 (n)
mouse
(Mus musculus)
Mammalia Ube4a 33 16 34
  • 92.09 (n)
rat
(Rattus norvegicus)
Mammalia Ube4a 33
  • 91.59 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE4A 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBE4A 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE4A 33 34
  • 79.61 (n)
lizard
(Anolis carolinensis)
Reptilia UBE4A 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube4a 33
  • 71.18 (n)
zebrafish
(Danio rerio)
Actinopterygii ube4a 33 34
  • 70.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11070 33 34
  • 49.98 (n)
BcDNA:LD34475 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001681 33
  • 48.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD2 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
Species where no ortholog for UBE4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBE4A Gene

ENSEMBL:
Gene Tree for UBE4A (if available)
TreeFam:
Gene Tree for UBE4A (if available)

Paralogs for UBE4A Gene

Paralogs for UBE4A Gene

genes like me logo Genes that share paralogs with UBE4A: view

Variants for UBE4A Gene

Sequence variations from dbSNP and Humsavar for UBE4A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs536863126 Benign 118,384,948(+) CAGGT(-/A)AAAAA intron-variant
rs1000258308 -- 118,364,271(+) AAACA(A/C)CTTTG intron-variant
rs1000368140 -- 118,357,688(+) ATTAA(A/G)TATAT upstream-variant-2KB
rs1000418227 -- 118,359,924(+) TGGAA(A/G)AGGCC intron-variant
rs1000466505 -- 118,372,823(+) TAGAA(A/T)AAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBE4A Gene

Variant ID Type Subtype PubMed ID
esv3548413 CNV deletion 23714750
esv3627868 CNV loss 21293372
nsv972076 CNV duplication 23825009
nsv976516 CNV duplication 23825009

Variation tolerance for UBE4A Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE4A Gene

Human Gene Mutation Database (HGMD)
UBE4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE4A Gene

Disorders for UBE4A Gene

MalaCards: The human disease database

(6) MalaCards diseases for UBE4A Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian serous cystadenocarcinoma
  • serous cystadenoma
ovary serous adenocarcinoma
  • malignant ovarian serous tumor
deafness, autosomal dominant 25
  • autosomal dominant nonsyndromic deafness 25
crohn's disease
  • crohn disease
ovarian cystadenocarcinoma
  • cystadenocarcinoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search UBE4A in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBE4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE4A
genes like me logo Genes that share disorders with UBE4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE4A Gene

Publications for UBE4A Gene

  1. Autoantibodies against ubiquitination factor E4A (UBE4A) are associated with severity of Crohn's disease. (PMID: 18069675) Sakiyama T … Tsubouchi H (Inflammatory bowel diseases 2008) 3 22 60
  2. [Differential expression of USP2, USP14 and UBE4A between ovarian serous cystadenocarcinoma and adjacent normal tissues]. (PMID: 17553343) Yang Y … Yang HJ (Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology 2007) 3 22 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. (PMID: 15019985) Contino G … Novelli G (Gene 2004) 3 22 60
  5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 60

Products for UBE4A Gene

Sources for UBE4A Gene

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