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UBA3 ubiquitin like modifier activating enzyme 3 [ Homo sapiens (human) ]

Gene ID: 9039, updated on 4-Nov-2018

Summary

Official Symbol
UBA3provided by HGNC
Official Full Name
ubiquitin like modifier activating enzyme 3provided by HGNC
Primary source
HGNC:HGNC:12470
See related
Ensembl:ENSG00000144744 MIM:603172; Vega:OTTHUMG00000154325
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
NAE2; UBE1C; hUBA3
Summary
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 a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 24.5), lymph node (RPKM 24.0) and 25 other tissues See more
Orthologs

Genomic context

See UBA3 in Genome Data Viewer
Location:
3p14.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (69054730..69080373, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69103881..69129524, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EGF domain specific O-linked N-acetylglucosamine transferase Neighboring gene TATA element modulatory factor 1 Neighboring gene microRNA 3136 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 5 Neighboring gene leiomodin 3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ubiquitin-like modifier activating enzyme 3 (UBA3) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

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...
  • 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 ...
  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
    CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
  • 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
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Dectin-1 mediated noncanonical NF-kB signaling, organism-specific biosystem (from REACTOME)
    Dectin-1 mediated noncanonical NF-kB signaling, organism-specific biosystemIn addition to the activation of canonical NF-kB subunits, activation of SYK pathway by Dectin-1 leads to the induction of the non-canonical NF-kB pathway, which mediates the nuclear translocation of...
  • 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...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NIK-->noncanonical NF-kB signaling, organism-specific biosystem (from REACTOME)
    NIK-->noncanonical NF-kB signaling, organism-specific biosystemIn addition to the activation of canonical NF-kB subunits, activation of SYK pathway by Dectin-1 leads to the induction of the non-canonical NF-kB pathway, which mediates the nuclear translocation of...
  • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
    TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
  • 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...
  • protein ubiquitylation, organism-specific biosystem (from BIOCYC)
    protein ubiquitylation, organism-specific biosystem
    protein ubiquitylation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22384, DKFZp566J164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
NEDD8 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NEDD8 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
NEDD8 transferase activity TAS
Traceable Author Statement
more info
 
acid-amino acid ligase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
endomitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein neddylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein neddylation IEA
Inferred from Electronic Annotation
more info
 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NEDD8-activating enzyme E1 catalytic subunit
Names
NEDD8-activating enzyme E1 subunit 2
NEDD8-activating enzyme E1C
Nedd8-activating enzyme hUba3
UBA3, ubiquitin-activating enzyme E1 homolog
ubiquitin-activating enzyme 3
ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)
ubiquitin-activating enzyme E1C (homologous to yeast UBA3)
NP_003959.3
NP_937838.1
XP_011532512.1
XP_011532513.1

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.

mRNA and Protein(s)

  1. NM_001363861.1NP_001350790.1  NEDD8-activating enzyme E1 catalytic subunit isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092060, AC109587
    Consensus CDS
    CCDS87106.1
    Conserved Domains (2) summary
    cd01488
    Location:48327
    Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam08825
    Location:335420
    E2_bind; E2 binding domain
  2. NM_003968.3NP_003959.3  NEDD8-activating enzyme E1 catalytic subunit isoform 1

    See identical proteins and their annotated locations for NP_003959.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK002159, AL117566, BC022853, CD700642
    Consensus CDS
    CCDS2909.1
    UniProtKB/Swiss-Prot
    Q8TBC4
    Related
    ENSP00000354340.4, OTTHUMP00000205507, ENST00000361055.8, OTTHUMT00000334839
    Conserved Domains (2) summary
    cd01488
    Location:71368
    Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam08825
    Location:376461
    E2_bind; E2 binding domain
  3. NM_198195.1NP_937838.1  NEDD8-activating enzyme E1 catalytic subunit isoform 2

    See identical proteins and their annotated locations for NP_937838.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, as compared to variant 1. The encoded isoform (2) is thus missing an internal segment in the N-terminal region, as compared to isoform 1.
    Source sequence(s)
    AK002159, AL117566, CD700642
    Consensus CDS
    CCDS2910.1
    UniProtKB/Swiss-Prot
    Q8TBC4
    Related
    ENSP00000340041.4, OTTHUMP00000205508, ENST00000349511.8, OTTHUMT00000334840
    Conserved Domains (2) summary
    cd01488
    Location:57354
    Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam08825
    Location:362447
    E2_bind; E2 binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    69054730..69080373 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534210.1XP_011532512.1  NEDD8-activating enzyme E1 catalytic subunit isoform X1

    See identical proteins and their annotated locations for XP_011532512.1

    Conserved Domains (2) summary
    cd01488
    Location:62341
    Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam08825
    Location:349434
    E2_bind; E2 binding domain
  2. XM_011534211.1XP_011532513.1  NEDD8-activating enzyme E1 catalytic subunit isoform X2

    UniProtKB/TrEMBL
    F8W8D4
    Related
    ENSP00000400294.2, OTTHUMP00000205509, ENST00000415609.6, OTTHUMT00000334844
    Conserved Domains (2) summary
    cd01488
    Location:48327
    Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam08825
    Location:335420
    E2_bind; E2 binding domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198197.1: Suppressed sequence

    Description
    NM_198197.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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