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UBE4A ubiquitination factor E4A [ Homo sapiens (human) ]

Gene ID: 9354, updated on 7-Apr-2025

Summary

Official Symbol
UBE4Aprovided by HGNC
Official Full Name
ubiquitination factor E4Aprovided by HGNC
Primary source
HGNC:HGNC:12499
See related
Ensembl:ENSG00000110344 MIM:603753; AllianceGenome:HGNC:12499
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; UBOX2; NEDHMS
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]
Expression
Ubiquitous expression in brain (RPKM 15.5), appendix (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

See UBE4A in Genome Data Viewer
Location:
11q23.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118359600..118399211)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118375859..118415462)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118230315..118269926)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5590 Neighboring gene CD3 delta subunit of T-cell receptor complex Neighboring gene CD3 gamma subunit of T-cell receptor complex Neighboring gene uncharacterized LOC100131626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118272182-118273045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118273504-118274094 Neighboring gene ATP synthase membrane subunit g Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:118306179-118307176 and GRCh37_chr11:118307177-118308175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118308176-118309173 Neighboring gene Sharpr-MPRA regulatory region 11577 Neighboring gene lysine methyltransferase 2A Neighboring gene ReSE screen-validated silencer GRCh37_chr11:118358704-118358932 Neighboring gene TTC36 and KMT2A antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
MedGen: C5562031 OMIM: 619639 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0126, MGC133315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin-ubiquitin ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin-ubiquitin ligase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ERAD pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 
part_of ubiquitin ligase complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
ubiquitin conjugation factor E4 A
Names
RING-type E3 ubiquitin transferase E4 A
ubiquitination factor E4A (UFD2 homolog, yeast)
NP_001191006.1
NP_004779.2

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_047106.1 RefSeqGene

    Range
    5020..44631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204077.2NP_001191006.1  ubiquitin conjugation factor E4 A isoform 2

    See identical proteins and their annotated locations for NP_001191006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AP001267, AW021567, BC039240, BC112367, DB068702
    Consensus CDS
    CCDS55790.1
    UniProtKB/Swiss-Prot
    B0YJB6, Q14139, Q2M1H0, Q6P5T4, Q7Z639
    UniProtKB/TrEMBL
    B4DK32
    Related
    ENSP00000252108.4, ENST00000252108.8
    Conserved Domains (2) summary
    pfam10408
    Location:330971
    Ufd2P_core; Ubiquitin elongating factor core
    cd16657
    Location:9901059
    RING-Ubox_UBE4A; U-box domain, a modified RING finger, found in ubiquitin conjugation factor E4 A (UBE4A) and similar proteins
  2. NM_004788.4NP_004779.2  ubiquitin conjugation factor E4 A isoform 1

    See identical proteins and their annotated locations for NP_004779.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP001267, AW021567, BC039240, BC062695, D50916, DB068702
    Consensus CDS
    CCDS8396.1
    UniProtKB/TrEMBL
    B4DK32
    Related
    ENSP00000387362.2, ENST00000431736.6
    Conserved Domains (3) summary
    COG5113
    Location:1701068
    UFD2; Ubiquitin fusion degradation protein 2 [Posttranslational modification, protein turnover, chaperones]
    pfam04564
    Location:9951067
    U-box; U-box domain
    pfam10408
    Location:337978
    Ufd2P_core; Ubiquitin elongating factor core

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    118359600..118399211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    118375859..118415462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)