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

Gene ID: 9039, updated on 25-Nov-2021

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
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
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Genomic context

See UBA3 in Genome Data Viewer
Location:
3p14.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (69054730..69080373, complement)
105.20201022 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 Sharpr-MPRA regulatory region 589 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 Neighboring gene FERM domain containing 4B Neighboring gene RNA binding motif protein 43 pseudogene 1

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 Functions

What'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 PubChem

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables NEDD8 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to NEDD8 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables NEDD8 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables NEDD8 transferase activity TAS
Traceable Author Statement
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
involved_in endomitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in post-translational protein modification TAS
Traceable Author Statement
more info
 
involved_in protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein neddylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein neddylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein neddylation IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

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_001350790.1
NP_003959.3
NP_937838.1
XP_011532512.1

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.

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
    Related
    ENSP00000400294.2, ENST00000415609.6
    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_003968.4NP_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, ENST00000361055.9
    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_198195.2NP_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, ENST00000349511.8
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 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

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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