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

Gene ID: 7337, updated on 20-Jan-2019

Summary

Official Symbol
UBE3Aprovided by HGNC
Official Full Name
ubiquitin protein ligase E3Aprovided by HGNC
Primary source
HGNC:HGNC:12496
See related
Ensembl:ENSG00000114062 MIM:601623
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]
Expression
Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs

Genomic context

See UBE3A in Genome Data Viewer
Location:
15q11.2
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (25337234..25439381, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25582394..25684190, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 115-48 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene uncharacterized LOC107984789 Neighboring gene ATPase phospholipid transporting 10A (putative) Neighboring gene RNA, 5S ribosomal pseudogene 390

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

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)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen 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

Pathways from BioSystems

  • 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 ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • 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...
  • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
    MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26981

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
brain development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
progesterone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ubiquitin-protein ligase E3A
Names
CTCL tumor antigen se37-2
E6AP ubiquitin-protein ligase
HECT-type ubiquitin transferase E3A
human papilloma virus E6-associated protein
human papillomavirus E6-associated protein
oncogenic protein-associated protein E6-AP
renal carcinoma antigen NY-REN-54
NP_000453.2
NP_001341434.1
NP_001341435.1
NP_001341436.1
NP_001341437.1
NP_001341438.1
NP_001341440.1
NP_001341441.1
NP_001341442.1
NP_001341452.1
NP_001341455.1
NP_001341467.1
NP_001341468.1
NP_001341469.1
NP_001341470.1
NP_001341471.1
NP_001341472.1
NP_001341473.1
NP_001341474.1
NP_001341475.1
NP_001341476.1
NP_001341477.1
NP_001341478.1
NP_001341479.1
NP_001341480.1
NP_570853.1
NP_570854.1
XP_011520297.1
XP_016878036.1
XP_016878037.1
XP_016878039.1
XP_016878045.1
XP_024305811.1
XP_024305812.1

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.

Genomic

  1. NG_002690.1 

    Range
    556325..658147 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_000462.5NP_000453.2  ubiquitin-protein ligase E3A isoform 2

    See identical proteins and their annotated locations for NP_000453.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45192.1
    UniProtKB/Swiss-Prot
    Q05086
    Related
    ENSP00000497594.1, ENST00000650110.1
    Conserved Domains (2) summary
    cd00078
    Location:523873
    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 ...
    pfam16558
    Location:2983
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  2. NM_001354505.1NP_001341434.1  ubiquitin-protein ligase E3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45191.1
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  3. NM_001354506.1NP_001341435.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Related
    ENSP00000401265.2, ENST00000428984.6
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  4. NM_001354507.1NP_001341436.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  5. NM_001354508.1NP_001341437.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Related
    ENSP00000486349.1, ENST00000630424.2
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  6. NM_001354509.1NP_001341438.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, DA807801, U84404
    Consensus CDS
    CCDS32177.1
    Related
    ENSP00000457771.1, ENST00000566215.5
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  7. NM_001354511.1NP_001341440.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  8. NM_001354512.1NP_001341441.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  9. NM_001354513.1NP_001341442.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  10. NM_001354523.1NP_001341452.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS86436.1
    Related
    ENSP00000490111.1, ENST00000638011.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  11. NM_001354526.1NP_001341455.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  12. NM_001354538.1NP_001341467.1  ubiquitin-protein ligase E3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45191.1
    Related
    ENSP00000490258.1, ENST00000637886.1
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  13. NM_001354539.1NP_001341468.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  14. NM_001354540.1NP_001341469.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  15. NM_001354541.1NP_001341470.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  16. NM_001354542.1NP_001341471.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  17. NM_001354543.1NP_001341472.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Related
    ENSP00000490557.1, ENST00000638155.1
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  18. NM_001354544.1NP_001341473.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    Related
    ENSP00000411258.1, ENST00000438097.6
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  19. NM_001354545.1NP_001341474.1  ubiquitin-protein ligase E3A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:520818
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  20. NM_001354546.1NP_001341475.1  ubiquitin-protein ligase E3A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (1) summary
    cd00078
    Location:461811
    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 ...
  21. NM_001354547.1NP_001341476.1  ubiquitin-protein ligase E3A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:500798
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  22. NM_001354548.1NP_001341477.1  ubiquitin-protein ligase E3A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:500798
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  23. NM_001354549.1NP_001341478.1  ubiquitin-protein ligase E3A isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:500795
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  24. NM_001354550.1NP_001341479.1  ubiquitin-protein ligase E3A isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:121453
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  25. NM_001354551.1NP_001341480.1  ubiquitin-protein ligase E3A isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:101433
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  26. NM_130838.3NP_570853.1  ubiquitin-protein ligase E3A isoform 1

    See identical proteins and their annotated locations for NP_570853.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses a downstream in-frame start codon, as compared to variant 2. The encoded isoform (1) is shorter than isoform 2.
    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/Swiss-Prot
    Q05086
    UniProtKB/TrEMBL
    Q9H2G0
    Related
    ENSP00000232165.5, ENST00000232165.7
    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  27. NM_130839.4NP_570854.1  ubiquitin-protein ligase E3A isoform 3

    See identical proteins and their annotated locations for NP_570854.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate start codon compared to variant 2. The encoded isoform (3) has a distinct N-terminus and is 3 and is shorter than isoform 2.
    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45191.1
    UniProtKB/Swiss-Prot
    Q05086
    Related
    ENSP00000497572.1, ENST00000648336.1
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

RNA

  1. NR_148916.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997

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_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    25337234..25439381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022556.2XP_016878045.1  ubiquitin-protein ligase E3A isoform X4

  2. XM_017022548.2XP_016878037.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/Swiss-Prot
    Q05086
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  3. XM_017022547.2XP_016878036.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/Swiss-Prot
    Q05086
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  4. XM_024450044.1XP_024305812.1  ubiquitin-protein ligase E3A isoform X3

    Conserved Domains (2) summary
    cd00078
    Location:500850
    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 ...
    pfam16558
    Location:660
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  5. XM_011521995.3XP_011520297.1  ubiquitin-protein ligase E3A isoform X1

    See identical proteins and their annotated locations for XP_011520297.1

    UniProtKB/Swiss-Prot
    Q05086
    Conserved Domains (2) summary
    cd00078
    Location:523873
    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 ...
    pfam16558
    Location:2983
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  6. XM_017022550.2XP_016878039.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/Swiss-Prot
    Q05086
    Conserved Domains (2) summary
    cd00078
    Location:520870
    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 ...
    pfam16558
    Location:2680
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
  7. XM_024450043.1XP_024305811.1  ubiquitin-protein ligase E3A isoform X1

    Conserved Domains (2) summary
    cd00078
    Location:523873
    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 ...
    pfam16558
    Location:2983
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
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