Human Gene SUMO1 (ENST00000392246.7) from GENCODE V44
Description: Homo sapiens small ubiquitin like modifier 1 (SUMO1), transcript variant 7, non-coding RNA. (from RefSeq NR_163943) RefSeq Summary (NM_001371394): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000392246.7 Gencode Gene: ENSG00000116030.17 Transcript (Including UTRs) Position: hg38 chr2:202,206,182-202,238,597 Size: 32,416 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr2:202,207,253-202,238,451 Size: 31,199 Coding Exon Count: 5
ID:SUMO1_HUMAN DESCRIPTION: RecName: Full=Small ubiquitin-related modifier 1; Short=SUMO-1; AltName: Full=GAP-modifying protein 1; Short=GMP1; AltName: Full=SMT3 homolog 3; AltName: Full=Sentrin; AltName: Full=Ubiquitin-homology domain protein PIC1; AltName: Full=Ubiquitin-like protein SMT3C; Short=Smt3C; AltName: Full=Ubiquitin-like protein UBL1; Flags: Precursor; 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. 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. INTERACTION: P10275:AR; NbExp=7; IntAct=EBI-80140, EBI-608057; Q9UER7:DAXX; NbExp=5; IntAct=EBI-80140, EBI-77321; Q9UBC3:DNMT3B; NbExp=4; IntAct=EBI-80140, EBI-80125; Q16665:HIF1A; NbExp=2; IntAct=EBI-80140, EBI-447269; P10242:MYB; NbExp=3; IntAct=EBI-80140, EBI-298355; P29590:PML; NbExp=2; IntAct=EBI-80140, EBI-295890; P46060:RANGAP1; NbExp=3; IntAct=EBI-80140, EBI-396091; Q9Y3V2:RWDD3; NbExp=2; IntAct=EBI-80140, EBI-1549885; O43290:SART1; NbExp=2; IntAct=EBI-80140, EBI-607761; Q01826:SATB1; NbExp=2; IntAct=EBI-80140, EBI-743747; SUBCELLULAR LOCATION: Nucleus membrane. Nucleus speckle. Cytoplasm. Note=Recruited by BCL11A into the nuclear body (By similarity). PTM: Cleavage of precursor form by SENP1 or SENP2 is necessary for function. PTM: Polymeric SUMO1 chains undergo polyubiquitination by RNF4. DISEASE: 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. SIMILARITY: Belongs to the ubiquitin family. SUMO subfamily. SIMILARITY: Contains 1 ubiquitin-like domain. WEB RESOURCE: Name=Wikipedia; Note=SUMO protein entry; URL="http://en.wikipedia.org/wiki/SUMO_protein";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P63165
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006281 DNA repair GO:0006303 double-strand break repair via nonhomologous end joining GO:0006355 regulation of transcription, DNA-templated GO:0016032 viral process GO:0016925 protein sumoylation GO:0030578 PML body organization GO:0031334 positive regulation of protein complex assembly GO:0031647 regulation of protein stability GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032880 regulation of protein localization GO:0034605 cellular response to heat GO:0043392 negative regulation of DNA binding GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0045759 negative regulation of action potential GO:0045892 negative regulation of transcription, DNA-templated GO:0050821 protein stabilization GO:0060021 palate development GO:0060334 regulation of interferon-gamma-mediated signaling pathway GO:0071276 cellular response to cadmium ion GO:0086004 regulation of cardiac muscle cell contraction GO:0090204 protein localization to nuclear pore GO:1901896 positive regulation of calcium-transporting ATPase activity GO:1902260 negative regulation of delayed rectifier potassium channel activity GO:1903169 regulation of calcium ion transmembrane transport
U83117 - Human sentrin mRNA, complete cds. U61397 - Human ubiquitin-homology domain protein PIC1 mRNA, complete cds. AB062294 - Homo sapiens OK/SW-cl.43 mRNA for ubiquitin-homology domain protein PIC1, complete cds. BC006462 - Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae), mRNA (cDNA clone MGC:2095 IMAGE:3546125), complete cds. BC066306 - Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae), mRNA (cDNA clone MGC:87116 IMAGE:4818792), complete cds. BC053528 - Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae), mRNA (cDNA clone MGC:61614 IMAGE:3452929), complete cds. BC005899 - Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae), mRNA (cDNA clone IMAGE:4047245). U38784 - Human ubiquitin-like protein mRNA, complete cds. JD328134 - Sequence 309158 from Patent EP1572962. JD501686 - Sequence 482710 from Patent EP1572962. U67122 - Human ubiquitin-related protein SUMO-1 mRNA, complete cds. JD548973 - Sequence 529997 from Patent EP1572962. JD333954 - Sequence 314978 from Patent EP1572962. JD362801 - Sequence 343825 from Patent EP1572962. JD404232 - Sequence 385256 from Patent EP1572962. JD147811 - Sequence 128835 from Patent EP1572962. X99586 - H.sapiens mRNA for SMT3C protein. JD250584 - Sequence 231608 from Patent EP1572962. BT006632 - Homo sapiens ubiquitin-like 1 (sentrin) mRNA, complete cds. CR542147 - Homo sapiens full open reading frame cDNA clone RZPDo834G0523D for gene UBL1, ubiquitin-like 1 (sentrin); complete cds, incl. stopcodon. U72722 - Human gap modifying protein 1 mRNA, complete cds. DQ893210 - Synthetic construct clone IMAGE:100005840; FLH195274.01X; RZPDo839A08152D SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) (SUMO1) gene, encodes complete protein. AK311840 - Homo sapiens cDNA, FLJ92103, Homo sapiens ubiquitin-like 1 (sentrin) (UBL1), mRNA. KJ892349 - Synthetic construct Homo sapiens clone ccsbBroadEn_01743 SUMO1 gene, encodes complete protein. KJ897721 - Synthetic construct Homo sapiens clone ccsbBroadEn_07115 SUMO1 gene, encodes complete protein. DQ896156 - Synthetic construct Homo sapiens clone IMAGE:100010616; FLH195270.01L; RZPDo839A08151D SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) (SUMO1) gene, encodes complete protein. AB587462 - Synthetic construct DNA, clone: pF1KB8253, Homo sapiens SUMO1 gene for SMT3 suppressor of mif two 3 homolog 1, without stop codon, in Flexi system. CR542156 - Homo sapiens full open reading frame cDNA clone RZPDo834B0124D for gene UBL1, ubiquitin-like 1 (sentrin); complete cds, without stopcodon. JD074312 - Sequence 55336 from Patent EP1572962. JD561554 - Sequence 542578 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_parkinPathway - Role of Parkin in the Ubiquitin-Proteasomal Pathway h_pmlPathway - Regulation of transcriptional activity by PML h_ctbp1Pathway - SUMOylation as a mechanism to modulate CtBP-dependent gene responses h_ranbp2Pathway - Sumoylation by RanBP2 Regulates Transcriptional Repression h_sumoPathway - Basic Mechanisms of SUMOylation
Reactome (by CSHL, EBI, and GO)
Protein P63165 (Reactome details) participates in the following event(s):
US Server
