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SAE1 SUMO1 activating enzyme subunit 1 [ Homo sapiens (human) ]

Gene ID: 10055, updated on 6-Jan-2019

Summary

Official Symbol
SAE1provided by HGNC
Official Full Name
SUMO1 activating enzyme subunit 1provided by HGNC
Primary source
HGNC:HGNC:30660
See related
Ensembl:ENSG00000142230 MIM:613294
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AOS1; SUA1; UBLE1A; HSPC140
Summary
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
Expression
Ubiquitous expression in testis (RPKM 24.6), thyroid (RPKM 21.1) and 25 other tissues See more
Orthologs

Genomic context

See SAE1 in Genome Data Viewer
Location:
19q13.32
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (47130794..47210636)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47634080..47713893)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 160 Neighboring gene zinc finger CCCH-type containing 4 Neighboring gene microRNA 3190 Neighboring gene microRNA 3191 Neighboring gene BCL2 binding component 3 Neighboring gene coiled-coil domain containing 9

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

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Processing and activation of SUMO, organism-specific biosystem (from REACTOME)
    Processing and activation of SUMO, organism-specific biosystemThe initial translation products of SUMO1, SUMO2, and SUMO3 are precursors that have extra amino acid residues at the C-terminus (reviewed in Wang and Dasso 2009, Wilkinson and Henley 2010, Hannoun ...
  • SUMO is conjugated to E1 (UBA2:SAE1), organism-specific biosystem (from REACTOME)
    SUMO is conjugated to E1 (UBA2:SAE1), organism-specific biosystemThe UBA2:SAE1 complex catalyzes the formation of a thioester linkage between the C-terminal glycine of the mature SUMO and a cysteine residue (cysteine-173) in UBA2 (SAE2) (reviewed in Wang and Dasso...
  • SUMO is transferred from E1 to E2 (UBE2I, UBC9), organism-specific biosystem (from REACTOME)
    SUMO is transferred from E1 to E2 (UBE2I, UBC9), organism-specific biosystemSUMO is transferred from cysteine-173 of UBA2 to cysteine-93 of UBC9 (UBE2I) in a transthiolation reaction (reviewed in Wang and Dasso 2009, Wilkinson and Henley 2010, Hannoun et al. 2010, Gareau and...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ3091

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
SUMO activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to SUMO activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
protein C-terminus binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity TAS
Traceable Author Statement
more info
PubMed 
small protein activating enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin activating enzyme activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein targeting to mitochondrion HMP PubMed 
protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
protein sumoylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
SUMO activating enzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SUMO activating enzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
SUMO-activating enzyme subunit 1
Names
SUMO-1 activating enzyme E1 N subunit
SUMO-1 activating enzyme subunit 1
activator of SUMO1
sentrin/SUMO-activating protein AOS1
ubiquitin-like 1-activating enzyme E1A
ubiquitin-like protein SUMO-1 activating enzyme

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_001145713.1NP_001139185.1  SUMO-activating enzyme subunit 1 isoform b

    See identical proteins and their annotated locations for NP_001139185.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons, compared to variant 1, which causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AI339364, AK021978, CN386158, DC297573
    Consensus CDS
    CCDS54285.1
    UniProtKB/Swiss-Prot
    Q9UBE0
    Related
    ENSP00000416557.2, ENST00000413379.7
    Conserved Domains (2) summary
    cd01492
    Location:16169
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
    pfam00899
    Location:19167
    ThiF; ThiF family
  2. NM_001145714.1NP_001139186.1  SUMO-activating enzyme subunit 1 isoform c

    See identical proteins and their annotated locations for NP_001139186.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon, compared to variant 1, which causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC008532, AC008755, AI339364, DA047601
    Consensus CDS
    CCDS54284.1
    UniProtKB/Swiss-Prot
    Q9UBE0
    Related
    ENSP00000440818.1, ENST00000392776.3
    Conserved Domains (1) summary
    cd01492
    Location:16169
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
  3. NM_005500.2NP_005491.1  SUMO-activating enzyme subunit 1 isoform a

    See identical proteins and their annotated locations for NP_005491.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI339364, BC018271, DC297573
    Consensus CDS
    CCDS12696.1
    UniProtKB/Swiss-Prot
    Q9UBE0
    UniProtKB/TrEMBL
    A0A024R0R4
    Related
    ENSP00000270225.6, ENST00000270225.11
    Conserved Domains (1) summary
    cd01492
    Location:16341
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...

RNA

  1. NR_027280.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI339364, AK090645, DA086973, DC312737
    Related
    ENST00000596995.1

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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    47130794..47210636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026136.2XP_016881625.1  SUMO-activating enzyme subunit 1 isoform X3

    Conserved Domains (2) summary
    pfam00899
    Location:1270
    ThiF; ThiF family
    cl22428
    Location:1277
    E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
  2. XM_006722963.3XP_006723026.2  SUMO-activating enzyme subunit 1 isoform X1

    Conserved Domains (1) summary
    cd01492
    Location:16169
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
  3. XM_017026135.2XP_016881624.2  SUMO-activating enzyme subunit 1 isoform X2

    Conserved Domains (1) summary
    cd01492
    Location:16169
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
  4. XM_006722965.4XP_006723028.2  SUMO-activating enzyme subunit 1 isoform X4

    Related
    ENSP00000468931.1, ENST00000600706.5
    Conserved Domains (1) summary
    cd01492
    Location:16169
    Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
  5. XM_024451306.1XP_024307074.1  SUMO-activating enzyme subunit 1 isoform X5

    Conserved Domains (2) summary
    cl22428
    Location:1105
    E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
    cl25380
    Location:3252
    ThiF; ThiF family

RNA

  1. XR_002958233.1 RNA Sequence

  2. XR_001753572.2 RNA Sequence

    Related
    ENST00000414294.6
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