ENSG00000116030


Homo sapiens

Features
Gene ID: ENSG00000116030
  
Biological name :SUMO1
  
Synonyms : P63165 / small ubiquitin-like modifier 1 / SUMO1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q33.1
Gene start: 202206180
Gene end: 202238608
  
Corresponding Affymetrix probe sets: 208761_s_at (Human Genome U133 Plus 2.0 Array)   208762_at (Human Genome U133 Plus 2.0 Array)   211069_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000376077
Ensembl peptide - ENSP00000386267
Ensembl peptide - ENSP00000387204
Ensembl peptide - ENSP00000386753
Ensembl peptide - ENSP00000386500
Ensembl peptide - ENSP00000386472
Ensembl peptide - ENSP00000386296
Ensembl peptide - ENSP00000376075
Ensembl peptide - ENSP00000376076
NCBI entrez gene - 7341     See in Manteia.
OMIM - 601912
RefSeq - NM_001005782
RefSeq - NM_003352
RefSeq - NM_001005781
RefSeq Peptide - NP_001005781
RefSeq Peptide - NP_001005782
RefSeq Peptide - NP_003343
swissprot - B9A032
swissprot - P63165
swissprot - B8ZZN6
swissprot - B8ZZJ0
swissprot - B8ZZ67
swissprot - A0A024R3Z2
swissprot - F8WBI1
Ensembl - ENSG00000116030
  
Related genetic diseases (OMIM): 613705 - ?Orofacial cleft 10, 613705
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sumo1ENSDARG00000044267Danio rerio
 SUMO1ENSGALG00000008435Gallus gallus
 Sumo1ENSMUSG00000026021Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SUMO2 / P61956 / small ubiquitin-like modifier 2ENSG0000018861250
SUMO3 / P55854 / small ubiquitin-like modifier 3ENSG0000018490050
SUMO4 / Q6EEV6 / small ubiquitin-like modifier 4ENSG0000017768843


Protein motifs (from Interpro)
Interpro ID Name
 IPR000626  Ubiquitin domain
 IPR022617  Rad60/SUMO-like domain
 IPR029071  Ubiquitin-like domain superfamily
 IPR033950  Sumo domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006281 DNA repair TAS
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016925 protein sumoylation IMP
 biological_processGO:0030578 PML body organization IEA
 biological_processGO:0031334 positive regulation of protein complex assembly IDA
 biological_processGO:0031647 regulation of protein stability IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0032880 regulation of protein localization TAS
 biological_processGO:0034605 cellular response to heat IDA
 biological_processGO:0043392 negative regulation of DNA binding IDA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IMP
 biological_processGO:0045759 negative regulation of action potential IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0060021 roof of mouth development ISS
 biological_processGO:0060334 regulation of interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0070911 global genome nucleotide-excision repair TAS
 biological_processGO:0071276 cellular response to cadmium ion IDA
 biological_processGO:0086004 regulation of cardiac muscle cell contraction IEA
 biological_processGO:0090204 protein localization to nuclear pore IEA
 biological_processGO:1901896 positive regulation of calcium-transporting ATPase activity IEA
 biological_processGO:1902260 negative regulation of delayed rectifier potassium channel activity IDA
 biological_processGO:1903169 regulation of calcium ion transmembrane transport IEA
 cellular_componentGO:0000792 heterochromatin IEA
 cellular_componentGO:0001650 fibrillar center IEA
 cellular_componentGO:0001741 XY body IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005643 nuclear pore TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031510 SUMO activating enzyme complex IDA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0097165 nuclear stress granule IDA
 molecular_functionGO:0001222 transcription corepressor binding IPI
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IMP
 molecular_functionGO:0008134 transcription factor binding ISS
 molecular_functionGO:0015459 potassium channel regulator activity IDA
 molecular_functionGO:0019789 SUMO transferase activity EXP
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0030674 protein binding, bridging IMP
 molecular_functionGO:0031386 protein tag IBA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0035259 glucocorticoid receptor binding IPI
 molecular_functionGO:0044388 small protein activating enzyme binding IPI


Pathways (from Reactome)
Pathway description
SUMO is conjugated to E1 (UBA2:SAE1)
SUMO is transferred from E1 to E2 (UBE2I, UBC9)
SUMO is proteolytically processed
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription factors
SUMOylation of ubiquitinylation proteins
SUMOylation of transcription cofactors
SUMOylation of SUMOylation proteins
SUMOylation of intracellular receptors
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
SUMOylation of DNA methylation proteins
SUMOylation of immune response proteins
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
Formation of Incision Complex in GG-NER
G2/M DNA damage checkpoint
Regulation of IFNG signaling
Negative regulation of activity of TFAP2 (AP-2) family transcription factors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000677 Oligodontia "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0100333 Unilateral cleft lip 
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 HP:0100334 Unilateral cleft palate 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011485 PPP5C / P53041 / protein phosphatase 5 catalytic subunit  / reaction
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / reaction / complex
 ENSG00000100201 DDX17 / Q92841 / DEAD-box helicase 17  / complex / reaction
 ENSG00000088305 DNMT3B / Q9UBC3 / DNA methyltransferase 3 beta  / complex / reaction
 ENSG00000087510 Q92754 / TFAP2C / transcription factor AP-2 gamma  / reaction / complex
 ENSG00000094916 CBX5 / P45973 / chromobox 5  / reaction / complex
 ENSG00000077150 NFKB2 / Q00653 / nuclear factor kappa B subunit 2  / reaction
 ENSG00000012504 NR1H4 / Q96RI1 / nuclear receptor subfamily 1 group H member 4  / complex / reaction
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / reaction
 ENSG00000108654 DDX5 / P17844 / DEAD-box helicase 5  / reaction / complex
 ENSG00000100906 NFKBIA / P25963 / NFKB inhibitor alpha  / reaction / complex
 ENSG00000002016 RAD52 / P43351 / RAD52 homolog, DNA repair protein  / complex / reaction
 ENSG00000116833 NR5A2 / O00482 / nuclear receptor subfamily 5 group A member 2  / reaction / complex
 ENSG00000130726 Q13263 / TRIM28 / tripartite motif containing 28  / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / reaction / complex
 ENSG00000113580 NR3C1 / P04150 / nuclear receptor subfamily 3 group C member 1  / complex / reaction
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / complex / reaction
 ENSG00000256683 Q9GZX5 / ZNF350 / zinc finger protein 350  / reaction
 ENSG00000082175 PGR / P06401 / progesterone receptor  / reaction / complex
 ENSG00000135679 MDM2 / Q00987 / MDM2 proto-oncogene  / reaction / complex
 ENSG00000139372 TDG / Q13569 / thymine DNA glycosylase  / complex / reaction
 ENSG00000119772 DNMT3A / Q9Y6K1 / DNA methyltransferase 3 alpha  / complex / reaction
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / reaction / complex
 ENSG00000186951 PPARA / Q07869 / peroxisome proliferator activated receptor alpha  / complex / reaction
 ENSG00000134086 VHL / P40337 / von Hippel-Lindau tumor suppressor  / reaction / complex
 ENSG00000055044 NOP58 / Q9Y2X3 / NOP58 ribonucleoprotein  / complex / reaction
 ENSG00000109819 Q9UBK2 / PPARGC1A / PPARG coactivator 1 alpha  / reaction / complex
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000204209 DAXX / Q9UER7 / death domain associated protein  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / reaction / complex
 ENSG00000069667 RORA / P35398 / RAR related orphan receptor A  / complex / reaction
 ENSG00000077097 TOP2B / Q02880 / DNA topoisomerase II beta  / reaction / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / reaction / complex
 ENSG00000151090 THRB / P10828 / thyroid hormone receptor beta  / reaction / complex
 ENSG00000141644 MBD1 / Q9UIS9 / methyl-CpG binding domain protein 1  / reaction / complex
 ENSG00000084676 NCOA1 / Q15788 / nuclear receptor coactivator 1  / complex / reaction
 ENSG00000160633 SAFB / Q15424 / scaffold attachment factor B  / complex / reaction
 ENSG00000163904 SENP2 / Q9HC62 / SUMO1/sentrin/SMT3 specific peptidase 2  / reaction
 ENSG00000164754 RAD21 / O60216 / RAD21 cohesin complex component  / complex
 ENSG00000141582 CBX4 / O00257 / chromobox 4  / complex
 ENSG00000154767 XPC / Q01831 / XPC complex subunit, DNA damage recognition and repair factor  / complex / reaction
 ENSG00000152422 XRCC4 / Q13426 / X-ray repair cross complementing 4  / complex / reaction
 ENSG00000165392 WRN / Q14191 / Werner syndrome RecQ like helicase  / reaction / complex
 ENSG00000153201 P49792 / RANBP2 / RAN binding protein 2  / complex / reaction
 ENSG00000132170 PPARG / P37231 / peroxisome proliferator activated receptor gamma  / complex / reaction
 ENSG00000087586 AURKA / O14965 / aurora kinase A  / complex
 ENSG00000140464 PML / P29590 / promyelocytic leukemia  / complex / reaction
 ENSG00000142230 SAE1 / Q9UBE0 / SUMO1 activating enzyme subunit 1  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction / complex
 ENSG00000181163 NPM1 / P06748 / nucleophosmin 1  / complex / reaction
 ENSG00000159692 CTBP1 / Q13363 / C-terminal binding protein 1  / reaction / complex
 ENSG00000178691 SUZ12 / Q15022 / SUZ12 polycomb repressive complex 2 subunit  / reaction / complex
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction / complex
 ENSG00000130816 DNMT1 / P26358 / DNA methyltransferase 1  / complex / reaction
 ENSG00000120798 NR2C1 / P13056 / nuclear receptor subfamily 2 group C member 1  / reaction / complex
 ENSG00000137203 P05549 / TFAP2A / transcription factor AP-2 alpha  / complex / reaction
 ENSG00000183770 FOXL2 / P58012 / forkhead box L2  / complex / reaction
 ENSG00000180530 NRIP1 / P48552 / nuclear receptor interacting protein 1  / complex / reaction
 ENSG00000116288 PARK7 / Q99497 / Parkinsonism associated deglycase  / reaction / complex
 ENSG00000064393 HIPK2 / Q9H2X6 / homeodomain interacting protein kinase 2  / reaction / complex
 ENSG00000170004 CHD3 / Q12873 / chromodomain helicase DNA binding protein 3  / reaction / complex
 ENSG00000187098 MITF / O75030 / melanogenesis associated transcription factor  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / complex / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction / complex
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / complex / reaction
 ENSG00000177374 HIC1 / Q14526 / HIC ZBTB transcriptional repressor 1  / reaction / complex
 ENSG00000182568 SATB1 / Q01826 / SATB homeobox 1  / reaction / complex
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / complex / reaction
 ENSG00000163322 Q6UWZ7 / ABRAXAS1 / abraxas 1, BRCA1 A complex subunit  / complex / reaction
 ENSG00000092199 HNRNPC / P07910 / heterogeneous nuclear ribonucleoprotein C (C1/C2)  / complex / reaction
 ENSG00000119231 SENP5 / Q96HI0 / SUMO1/sentrin specific peptidase 5  / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000198900 TOP1 / P11387 / DNA topoisomerase I  / reaction / complex
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / reaction / complex
 ENSG00000196588 MKL1 / Q969V6 / megakaryoblastic leukemia (translocation) 1  / reaction / complex
 ENSG00000119318 P54727 / RAD23B / RAD23 homolog B, nucleotide excision repair protein  / complex
 ENSG00000197579 Q9NS56 / TOPORS / TOP1 binding arginine/serine rich protein  / reaction / complex
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / reaction / complex
 ENSG00000008196 Q92481 / TFAP2B / transcription factor AP-2 beta  / reaction / complex
 ENSG00000186350 RXRA / P19793 / retinoid X receptor alpha  / reaction / complex
 ENSG00000196498 NCOR2 / Q9Y618 / nuclear receptor corepressor 2  / complex / reaction
 ENSG00000143799 PARP1 / P09874 / poly(ADP-ribose) polymerase 1  / complex / reaction
 ENSG00000136931 NR5A1 / Q13285 / nuclear receptor subfamily 5 group A member 1  / complex / reaction
 ENSG00000147400 CETN2 / P41208 / centrin 2  / complex
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / reaction / complex
 ENSG00000169083 AR / P10275 / androgen receptor  / reaction / complex
 ENSG00000066135 KDM4A / O75164 / lysine demethylase 4A  / complex / reaction
 ENSG00000116478 HDAC1 / Q13547 / histone deacetylase 1  / reaction / complex
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / complex / reaction
 ENSG00000131747 TOP2A / P11388 / DNA topoisomerase II alpha  / reaction / complex
 ENSG00000169375 SIN3A / Q96ST3 / SIN3 transcription regulator family member A  / reaction / complex
 ENSG00000151623 NR3C2 / P08235 / nuclear receptor subfamily 3 group C member 2  / reaction
 ENSG00000196591 HDAC2 / Q92769 / histone deacetylase 2  / complex / reaction
 ENSG00000101972 STAG2 / Q8N3U4 / stromal antigen 2  / complex
 ENSG00000100401 P46060 / RANGAP1 / Ran GTPase activating protein 1  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / reaction / complex
 ENSG00000126351 THRA / P10827 / thyroid hormone receptor, alpha  / complex / reaction
 ENSG00000126261 UBA2 / Q9UBT2 / ubiquitin like modifier activating enzyme 2  / complex / reaction
 ENSG00000172262 P52739 / ZNF131 / zinc finger protein 131  / reaction / complex
 ENSG00000168556 ING2 / Q9H160 / inhibitor of growth family member 2  / reaction / complex
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / complex / reaction
 ENSG00000172845 SP3 / Q02447 / Sp3 transcription factor  / reaction / complex
 ENSG00000067066 SP100 / P23497 / SP100 nuclear antigen  / reaction / complex
 ENSG00000033800 PIAS1 / O75925 / protein inhibitor of activated STAT 1  / reaction / complex
 ENSG00000068024 HDAC4 / P56524 / histone deacetylase 4  / complex / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction / complex
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex / reaction
 ENSG00000140396 NCOA2 / Q15596 / nuclear receptor coactivator 2  / complex / reaction
 ENSG00000168283 BMI1 / P35226 / BMI1 proto-oncogene, polycomb ring finger  / complex
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / reaction / complex
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / reaction / complex
 ENSG00000079387 SENP1 / Q9P0U3 / SUMO1/sentrin specific peptidase 1  / reaction
 ENSG00000263528 IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilon  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction






 

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