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UBE3A ubiquitin protein ligase E3A [ Homo sapiens (human) ]

Gene ID: 7337, updated on 16-Apr-2014
Official Symbol
UBE3Aprovided by HGNC
Official Full Name
ubiquitin protein ligase E3Aprovided by HGNC
Primary source
HGNC:12496
See related
Ensembl:ENSG00000114062; HPRD:03375; MIM:601623; Vega:OTTHUMG00000171548
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
AS; ANCR; E6-AP; HPVE6A; EPVE6AP
Summary
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Location :
15q11.2
Sequence :
Chromosome: 15; NC_000015.10 (25337245..25439043, complement)
See UBE3A in Epigenomics

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 115 cluster Neighboring gene small nucleolar RNA, C/D box 115-48 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene ATPase, class V, type 10A Neighboring gene RNA, 5S ribosomal pseudogene 390 Neighboring gene microRNA 4715

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Angelman syndrome
MedGen: C0162635 OMIM: 105830 GeneReviews: Angelman Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-08-23)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Coregulation of Androgen receptor activity, organism-specific biosystem
    Coregulation of Androgen receptor activity
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
    Tryptophan metabolism, organism-specific biosystem
    Tryptophan metabolism
  • 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...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
androgen receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
brain development TAS
Traceable Author Statement
more info
PubMed 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
sperm entry IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ubiquitin-protein ligase E3A
Names
ubiquitin-protein ligase E3A
CTCL tumor antigen se37-2
E6AP ubiquitin-protein ligase
renal carcinoma antigen NY-REN-54
human papillomavirus E6-associated protein
oncogenic protein-associated protein E6-AP
human papilloma virus E6-associated protein
NP_000453.2
NP_570853.1
NP_570854.1

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_002690.1 Reference

    Range
    556340..658119, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_009268.1 RefSeqGene

    Range
    4954..106733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_15

mRNA and Protein(s)

  1. NM_000462.3NP_000453.2  ubiquitin-protein ligase E3A isoform 2

    See proteins identical to NP_000453.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform of this protein.
    Source sequence(s)
    AC100774, AK292514, BC002582, BE349076, DA415876, X98031
    Consensus CDS
    CCDS45192.1
    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    smart00119
    Location:550872
    Blast Score: 1151
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:523873
    Blast Score: 1234
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  2. NM_130838.1NP_570853.1  ubiquitin-protein ligase E3A isoform 1

    See proteins identical to NP_570853.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses a downstream in-frame start codon, as compared to variant 2. An additional exon at the 5' end containing a stop codon has been described, but its full length sequence has not been reported. Isoform 1 is 23 aa shorter than isoform 2.
    Source sequence(s)
    AC100774, AF273050, AI378869
    Consensus CDS
    CCDS32177.1
    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Related
    ENSP00000411258, ENST00000438097
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  3. NM_130839.2NP_570854.1  ubiquitin-protein ligase E3A isoform 3

    See proteins identical to NP_570854.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes three unique exons in the 5' end, as compared to variant 1. Isoform 3 has a distinct N-terminus and is 3 aa shorter than isoform 2.
    Source sequence(s)
    AC100774, AK292514, BC002582, DA415876
    Consensus CDS
    CCDS45191.1
    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9BUI6
    Related
    ENSP00000232165, OTTHUMP00000246395, ENST00000232165, OTTHUMT00000414066
    Conserved Domains (2) summary
    smart00119
    Location:547869
    Blast Score: 1154
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:520870
    Blast Score: 1236
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10

    Range
    25337245..25439043, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268271.2XP_005268328.1  

    See proteins identical to XP_005268328.1

    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  2. XM_006720676.1XP_006720739.1  

    See proteins identical to XP_006720739.1

    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  3. XM_005268270.2XP_005268327.1  

    See proteins identical to XP_005268327.1

    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  4. XM_005268268.2XP_005268325.1  

    See proteins identical to XP_005268325.1

    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  5. XM_005268269.2XP_005268326.1  

    See proteins identical to XP_005268326.1

    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  6. XM_006720675.1XP_006720738.1  

    See proteins identical to XP_006720738.1

    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  7. XM_005268267.2XP_005268324.1  

    See proteins identical to XP_005268324.1

    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Conserved Domains (2) summary
    smart00119
    Location:527849
    Blast Score: 1150
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:500850
    Blast Score: 1232
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  8. XM_006720674.1XP_006720737.1  

    See proteins identical to XP_006720737.1

    Conserved Domains (2) summary
    smart00119
    Location:547869
    Blast Score: 1154
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:520870
    Blast Score: 1236
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  9. XM_006720673.1XP_006720736.1  

    See proteins identical to XP_006720736.1

    Conserved Domains (2) summary
    smart00119
    Location:547869
    Blast Score: 1154
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:520870
    Blast Score: 1236
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

Alternate HuRef

Genomic

  1. AC_000147.1 Alternate HuRef

    Range
    3706895..3808683, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    25531939..25633637, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)