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

Gene ID: 10055, updated on 23-Nov-2023

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; AllianceGenome:HGNC:30660
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
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Genomic context

See SAE1 in Genome Data Viewer
Location:
19q13.32
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47130835..47210636)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49956146..50035948)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47634092..47713893)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10836 Neighboring gene Sharpr-MPRA regulatory region 8906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47552307-47552824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47552825-47553342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47557751-47558307 Neighboring gene transmembrane protein 160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47562983-47563503 Neighboring gene MPRA-validated peak3531 silencer Neighboring gene zinc finger CCCH-type containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47613025-47613752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47615210-47615938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47615939-47616666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47633866-47634480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47638584-47639354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47639355-47640124 Neighboring gene uncharacterized LOC124904730 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:47660297-47660840 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47660841-47661382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47661383-47661925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47692347-47693113 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47712248-47712997 Neighboring gene Sharpr-MPRA regulatory region 12080 Neighboring gene MPRA-validated peak3532 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47728631-47729130 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47729258-47729424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10840 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47730339-47731281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14861 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47735673-47736296 Neighboring gene uncharacterized LOC124904731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10844 Neighboring gene microRNA 3190 Neighboring gene microRNA 3191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47744377-47745178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14864 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5064 Neighboring gene BCL2 binding component 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ3091

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of SUMO activating enzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of SUMO activating enzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SUMO activating enzyme complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus HDA 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)

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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_001145713.2NP_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/TrEMBL
    B3KNJ4
    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_001145714.2NP_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/TrEMBL
    B3KNJ4
    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_005500.3NP_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
    B2RDP5, B3KMQ2, F5GXX7, G3XAK6, O95717, Q9P020, Q9UBE0
    Related
    ENSP00000270225.6, ENST00000270225.12
    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_027280.2 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)
    AC008755, AI339364, AK090645, DA086973, DC312737
    Related
    ENST00000596995.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    47130835..47210636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    49956146..50035948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)