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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SUMO1 Gene

protein-coding   GIFtS: 65
GCID: GC02M203070

SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)

(Previous names: ubiquitin-like 1 (sentrin), SMT3 suppressor of mif two...)
(Previous symbol: UBL1)
 Explore 46 diseases affiliated with
SUMO1 via our new
 Human Malady Compendium 
Biological research products
for SUMO1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SMT3 Suppressor Of Mif Two 3 Homolog 1 (S. Cerevisiae)1 2     SMT32 5
UBL11 2 3 5     SMT3 Suppressor Of Mif Two 3 Homolog 1 (Yeast)1
GMP11 2 3     Ubiquitin-Like 1 (Sentrin)1
SMT3C1 2 3     DAP12
SMT3H31 2 3     SENP22
OFC101 2 5     GAP Modifying Protein 12
PIC11 2     Sentrin3
SUMO-11 3     Small Ubiquitin-Related Modifier 12
Ubiquitin-Homology Domain Protein PIC12 3     Sentrin3
Ubiquitin-Like Protein SMT3C2 3     Smt3C3
Ubiquitin-Like Protein UBL12 3     GAP-Modifying Protein 13
SMT3 Homolog 32 3     

External Ids:    HGNC: 125021   Entrez Gene: 73412   Ensembl: ENSG000001160307   OMIM: 6019125   UniProtKB: P631653   

Export aliases for SUMO1 gene to outside databases

Previous GC identifers: GC02M203274 GC02M202896 GC02M202779


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SUMO1:
This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions
in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification
system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of
cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not
active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been
reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SUMO1_HUMAN, P63165
Function: Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer.
Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and
linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This
post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes
such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in
targeting RANGAP1 to the nuclear pore complex protein RANBP2. Polymeric SUMO1 chains are also susceptible to
polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a
network of genes involved in palate development

Gene Wiki entry for SUMO1 (Small ubiquitin-related modifier 1)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SUMO1 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUMO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SUMO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SUMO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33

SUMO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUMO1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M203070:  view genomic region     (about GC identifiers)

Start:
203,070,903 bp from pter      End:
203,103,331 bp from pter
Size:
32,429 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SUMO1_HUMAN, P63165 (See protein sequence)
Recommended Name: Small ubiquitin-related modifier 1 precursor  
Size: 101 amino acids; 11557 Da
Subunit: Interacts with SAE2, UBE2I, RANBP2, PIAS1 and PIAS2. Interacts with PARK2. Covalently attached to a number of
proteins such as IKFZ1, PML, RANGAP1, HIPK2, SP100, p53, p73-alpha, MDM2, JUN, DNMT3B and TDG. Also interacts with
HIF1A, HIPK2, HIPK3, CHD3, EXOSC9, RAD51 and RAD52. Interacts with USP25 (via ts SIM domain); the interaction weakly
sumoylates USP25. Interacts with SIMC1, CASP8AP2, RNF111 AND SOBP (via SIM domains)
Subcellular location: Nucleus membrane. Nucleus speckle. Cytoplasm. Note=Recruited by BCL11A into the nuclear body (By
similarity)
6/20 PDB 3D structures from and Proteopedia for SUMO1 (see all 20):
1A5R (3D)        1TGZ (3D)        1WYW (3D)        1Y8R (3D)        1Z5S (3D)        2ASQ (3D)    
Secondary accessions: B2R4I5 P55856 Q6FGG0 Q6NZ62 Q93068

Explore the universe of human proteins at neXtProt for SUMO1: NX_P63165

Post-translational modifications:

  • Cleavage of precursor form by SENP1 or SENP2 is necessary for function1
  • Polymeric SUMO1 chains undergo polyubiquitination by RNF41
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P63165

  • SUMO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001005781.1  NP_001005782.1  NP_003343.1  

    ENSEMBL proteins: 
     ENSP00000376077   ENSP00000387204   ENSP00000376075   ENSP00000386296   ENSP00000386753  
     ENSP00000386472   ENSP00000386267   ENSP00000386500   ENSP00000376076  
    Reactome Protein details: P63165
    Human Recombinant Protein Products: 
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    Novus Biologicals SUMO1 Proteins
    Novus Biologicals SUMO1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SUMO1
    Uscn Proteins for SUMO1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9412458
    GO:0005643nuclear pore TAS9019411
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0016604nuclear body ----


    SUMO1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SUMO1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SUMO1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000626 Ubiquitin
     IPR019955 Ubiquitin_supergroup

    Graphical View of Domain Structure for InterPro Entry P63165

    ProtoNet protein and cluster: P63165

    1 Blocks protein family: IPB000626 Ubiquitin domain

    UniProtKB/Swiss-Prot: SUMO1_HUMAN, P63165
    Similarity: Belongs to the ubiquitin family. SUMO subfamily
    Similarity: Contains 1 ubiquitin-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SUMO1_HUMAN, P63165
    Function: Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer.
    Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and
    linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This
    post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes
    such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in
    targeting RANGAP1 to the nuclear pore complex protein RANBP2. Polymeric SUMO1 chains are also susceptible to
    polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a
    network of genes involved in palate development

    miRNA
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    hsa-miR-21* hsa-miR-323-3p hsa-miR-520d-5p hsa-miR-133b hsa-miR-3133 hsa-miR-3692 hsa-miR-570 hsa-miR-146a*
    SwitchGear 3'UTR luciferase reporter plasmidSUMO1 3' UTR sequence
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008134transcription factor binding IEA--
    GO:0019789SUMO ligase activity IEA--
    GO:0031625ubiquitin protein ligase binding IPI18408734


    SUMO1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SUMO1:
     Increased homologous recombina 

    Animal Models:
         Mouse knock-out Sumo1tm1Oaj for SUMO1
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sumo1):
     cellular  craniofacial  digestive/alimentary  mortality/aging  normal 

    SUMO1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription_P53 signaling pathway
    Transcription_P53 signaling pathway1.00
    Transcription P53 signaling pathway0.98
    2Cytokine Signaling in Immune system
    Cytokine Signaling in Immune system1.00
    Interferon Signaling0.61
    3Transcription NF-kB signaling pathway
    Transcription NF-kB signaling pathway1.00
    Transcription_NF-kB signaling pathway0.85
    4Proteolysis Putative SUMO-1 pathway
    Proteolysis Putative SUMO-1 pathway1.00
    Proteolysis_Putative SUMO-1 pathway0.97
    5DNA damage Role of SUMO in p53 regulation
    DNA damage Role of SUMO in p53 regulation1.00
    DNA damage_Role of SUMO in p53 regulation0.95

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/6 EMD Millipore Pathways for SUMO1 (see all 6)
        Development Glucocorticoid receptor signaling
    Transcription NF-kB signaling pathway
    Proteolysis Putative SUMO-1 pathway
    Apoptosis and survival FAS signaling cascades
    DNA damage Role of SUMO in p53 regulation


    1 Cell Signaling Technology (CST) Pathway for SUMO1
        Protein Stability

    5/6 GeneGo (Thomson Reuters) Pathways for SUMO1 (see all 6)
        Proteolysis Putative SUMO-1 pathway
    Transcription P53 signaling pathway
    Apoptosis and survival FAS signaling cascades
    Transcription NF-kB signaling pathway
    DNA damage Role of SUMO in p53 regulation

    5/9 BioSystems Pathways for SUMO1 (see all 9
        TP53 network
    Diurnally regulated genes with circadian orthologs
    TGF-beta Receptor Signaling Pathway
    Androgen receptor signaling pathway
    Wnt Signaling Pathway NetPath

    5        Reactome Pathways for SUMO1
        Interferon gamma signaling
    Regulation of IFNG signaling
    Cytokine Signaling in Immune system
    Interferon Signaling
    Immune System


    1         Kegg Pathway  (Kegg details for SUMO1):
        RNA transport


    SUMO1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUMO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1159 Interacting proteins for SUMO1 (P631651, 2, 3 ENSP000003760764) via UniProtKB, MINT, STRING, and/or I2D (see all 1159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=14 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=14 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=14 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=14 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=14 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS8812453
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0016925protein sumoylation IDA14752048
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0030578PML body organization IEA--


    SUMO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SUMO1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SUMO1
    10/17 Novoseek chemical compound relationships for SUMO1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pic 1 90.5 19 9465300 (5), 9658103 (4), 12379236 (2), 9360969 (1) (see all 5)
    lysine 67.7 28 11259410 (3), 15958389 (2), 11264375 (2), 15613319 (1) (see all 17)
    arginine 22.3 2 16120648 (1), 12200128 (1)
    testosterone 21.2 7 11121022 (2), 19116244 (1), 14609956 (1), 12177000 (1)
    camptothecin 10.8 4 12439742 (2), 16428803 (2)
    glutamine 10.6 11 12488827 (4), 16409557 (1)
    progesterone 8.9 4 14500579 (2), 12529333 (1)
    zinc 7.94 2 14527952 (1), 18655774 (1)
    gdp 2.93 2 16562673 (1), 15952105 (1)
    retinoic acid 1.71 1 9756909 (1)

    Search CenterWatch for drugs/clinical trials and news about SUMO1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SUMO1 gene (3 alternative transcripts): 
    NM_001005781.1  NM_001005782.1  NM_003352.4  

    Unigene Cluster for SUMO1:

    SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)
    Hs.81424  [show with all ESTs]
    Unigene Representative Sequence: BF214482
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392246(uc002uyz.1 uc002uza.1) ENST00000409368 ENST00000392244
    ENST00000409712 ENST00000409181 ENST00000409498 ENST00000409205 ENST00000409627
    ENST00000469034 ENST00000392245

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    hsa-miR-21* hsa-miR-323-3p hsa-miR-520d-5p hsa-miR-133b hsa-miR-3133 hsa-miR-3692 hsa-miR-570 hsa-miR-146a*
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    Additional cDNA sequence: 

    AB062294.1 AK311840.1 BC005899.1 BC006462.1 BC053528.1 BC066306.1 BT006632.1 CR542147.1 
    CR542156.1 U38784.1 U61397.1 U67122.1 U72722.1 U83117.1 X99586.1 

    24/27 DOTS entries (see all 27):

    DT.91879933  DT.100855185  DT.100855196  DT.95365185  DT.99968800  DT.100031322  DT.121428660  DT.446856 
    DT.95365183  DT.121428730  DT.95365191  DT.120982180  DT.120982190  DT.120982198  DT.95365194  DT.100855188 
    DT.100855192  DT.92460104  DT.92460108  DT.95365199  DT.95365209  DT.100855186  DT.120982148  DT.120982153 

    24/598 AceView cDNA sequences (see all 598):

    U72722 AA605140 BQ223879 N23177 AA989657 CR542147 AI985560 AA878612 
    BE878031 AA551095 AA641318 BM924046 BU686311 CR595275 AW593224 CB216671 
    AI022294 CK822151 AW474396 AA970906 W76176 AV711823 BE646551 BU657618 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SUMO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAAATGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SUMO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUMO1

    SOURCE GeneReport for Unigene cluster: Hs.81424
        SABiosciences Expression via Pathway-Focused PCR Array including SUMO1: 
              DNA Damage Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUMO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SUMO1 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SUMO11 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 91.42(n)
    98.02(a)
      373930  NM_204135.2  NP_989466.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUMO16
    --
    97(a)
    1 ↔ 1
    GL343208.1(3852560-3862651)
    African clawed frog
    (Xenopus laevis)
    Amphibia SUMO-12 SUMO-1 protein 80.29(n)    Z97073.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmzeh06702 Danio rerio cDNA clone MGC65934 IMAGE6790208, complete more 77.48(n)    BC056283.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    66(a)
    1 ↔ 1
    Group3.10(38216-39312)
    worm
    (Caenorhabditis elegans)
    Secernentea smo-11 Protein SMO-1 59.4(n)
    66.67(a)
      266820  NM_058441.3  NP_490842.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SUM16
    AT5G558566
    (see all 7)
    ubiquitin-related modifier
    (see all 7)
    46(a)
    40(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    4(13497326-13498730)
    5(22607927-22608640)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    ubiquitin family domain containing protein, expres...
    ubiquitin family domain containing protein, expres...
    45(a)
    42(a)
    many ↔ many
    many ↔ many
    1(40063602-40065230)
    1(40060804-40062480)


    ENSEMBL Gene Tree for SUMO1 (if available)
    TreeFam Gene Tree for SUMO1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SUMO1 gene
    SUMO22  ENSG000002285322  SUMO42  SUMO32  
    18/22 SIMAP similar genes for SUMO1 using alignment to 7 protein entries:     SUMO1_HUMAN (see all proteins) (see all similar genes):
    HC6    HBP1    RPGRIP1L    KIAA0101    AAMDC    NAE1
    COQ5    MST132    TBCB    C4BPB    CALCOCO2    LSM12
    FLJ00047    NDC80    SEPSECS    SUMO2    IRF5    EIF3G

    SUMO1 for paralogs           About GeneDecksing


    5/13 Pseudogenes.org Pseudogenes for SUMO1 (see all 13)
    PGOHUM00000242374 PGOHUM00000242598 PGOHUM00000237385 PGOHUM00000234734 PGOHUM00000244800


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/511 NCBI SNPs in SUMO1 are shown (see all 511    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129910141,2
    C,H--203071016(+) TATTGT/GGGCCT 3 -- ut31 ese34Minor allele frequency- G:0.00NS EA 420
    rs729230151,2
    --203071200(+) AAGCAA/TTAGTA 3 -- ut310--------
    rs1492695521,2
    --203071552(+) GGTCAC/TTTTTC 3 -- int1 ut310--------
    rs1831878671,2
    --203071647(+) GCCAAC/TTGGAA 3 -- ut31 int10--------
    rs1452844271,2
    --203071694(+) ATCACC/TACAAG 3 -- ut31 int10--------
    rs1878503731,2
    --203072199(+) AAGAAC/TATAGA 3 -- int10--------
    rs1926173301,2
    --203072225(+) GATTCC/TGTCTA 3 -- int10--------
    rs1836984641,2
    --203072288(+) CTATAC/TAAAAC 3 -- int10--------
    rs1876668021,2
    --203072458(+) TGGCAC/TAATCT 3 -- int10--------
    rs1378730231,2
    --203072576(+) ACAAGA/CGTGCG 3 -- int10--------

    HapMap Linkage Disequilibrium report for SUMO1 (203070903 - 203103331 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SUMO1
         1 CNV: 98105
    Human Gene Mutation Database (HGMD): SUMO1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SUMO1
    DNA2.0 Custom Variant and Variant Library Synthesis for SUMO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SUMO1 for disorders           About GeneDecksing

    OMIM gene information: 601912   
    OMIM disorders: 613705  
    UniProtKB/Swiss-Prot: SUMO1_HUMAN, P63165
  • Defects in SUMO1 are the cause of non-syndromic orofacial cleft type 10 (OFC10) [MIM:613705]; also called
  • non-syndromic cleft lip with or without cleft palate 10. OFC10 is a birth defect consisting of cleft lips with or
    without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one
    or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending
    into the floor of the nostril and involving the upper gum. Note=A chromosomal aberation involving SUMO1 is the cause
    of OFC10. Translocation t(2;8)(q33.1;q24.3). The breakpoint occurred in the SUMO1 gene and resulted in
    haploinsufficiency confirmed by protein assays

    20/46 diseases for SUMO1 (see all 46):    About MalaCards
    cleft lip/palate    neuronal intranuclear inclusion disease    dna topoisomerase ii    orofacial cleft
    dna topoisomerase i    cleft lip    cortisol resistance    birth defects
    bloom syndrome    frontotemporal dementia    oral squamous cell carcinoma    multiple system atrophy
    primary pulmonary hypertension    squamous cell carcinoma    cleft palate    pulmonary hypertension
    rheumatoid arthritis    megakaryoblastic leukemia    herpes simplex    werner syndrome

    10/12 Novoseek disease relationships for SUMO1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    promyelocytic leukemia 74 15 14527952 (2), 17060459 (1), 16287851 (1), 15707587 (1) (see all 7)
    leukemia promyelocytic acute 46.1 1 9465300 (1)
    bloom syndrome 35.9 1 11500040 (1)
    leukemia 14.4 5 16409557 (1), 16125395 (1), 11080164 (1), 16401619 (1)
    rheumatoid arthritis 0.0063 7 17360386 (2), 10728754 (1), 19565496 (1)
    virus infection 0 2 9658103 (2)
    necrosis 0 4 9162015 (1), 9353268 (1), 10728754 (1), 18093978 (1)
    shock 0 2 19409099 (1)
    tumors 0 13 19859084 (5), 17671677 (3), 12621041 (1), 9162015 (1) (see all 7)
    neurodegeneration 0 1 16401619 (1)

    Human Genome Epidemiology (HuGE) Navigator: SUMO1 (13 documents)

    Export disorders for SUMO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SUMO1 gene, integrated from 9 sources (see all 621):
    (articles sorted by number of sources associating them with SUMO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UBL1, a human ubiquitin-like protein associating with human RAD51/RAD52 proteins. (PubMed id 8812453)1, 2, 3, 9 Shen Z....Chen D.J. (1996)
    2. Protection against Fas/APO-1- and tumor necrosis factor-mediated cell death by a novel protein, sentrin. (PubMed id 8906799)1, 2, 3 Okura T....Yeh E.T. (1996)
    3. Structure determination of the small ubiquitin-related modifier SUMO- 1. (PubMed id 9654451)1, 2, 9 Bayer P....Becker J. (1998)
    4. Role of an N-terminal site of Ubc9 in SUMO-1, -2, and -3 binding and conjugation. (PubMed id 12924945)1, 2, 9 Tatham M.H.... Chen Y. (2003)
    5. Preferential modification of nuclear proteins by a novel ubiquitin- like molecule. (PubMed id 9162015)1, 2, 9 Kamitani T.... Yeh E.T.H. (1997)
    6. Functional modulation of parkin through physical interaction with SUMO-1. (PubMed id 16955485)1, 2, 9 Um J.W. and Chung K.C. (2006)
    7. Molecular features of human ubiquitin-like SUMO genes and their encoded proteins. (PubMed id 12383504)1, 2, 9 Su H.-L. and Li S.S.-L. (2002)
    8. SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family. (PubMed id 9119407)1, 2, 9 Lapenta V....Brahe C. (1997)
    9. Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9- Nup358 complex. (PubMed id 15931224)1, 2, 9 Reverter D. and Lima C.D. (2005)
    10. Unique binding interactions among Ubc9, SUMO and RanBP2 reveal a mechanism for SUMO paralog selection. (PubMed id 15608651)1, 2, 9 Tatham M.H.... Hay R.T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7341 HGNC: 12502 AceView: SUMO1 Ensembl:ENSG00000116030 euGenes: HUgn7341
    ECgene: SUMO1 Kegg: 7341 H-InvDB: SUMO1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SUMO1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SUMO1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/SUMO_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SUMO1 gene:
    Search GeneIP for patents involving SUMO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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