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Gene Gene information from NCBI Gene database.
Entrez ID 7341
Gene name Small ubiquitin like modifier 1
Gene symbol SUMO1
Synonyms (NCBI Gene)
DAP1GMP1OFC10PIC1SENP2SMT3SMT3CSMT3H3UBL1
Chromosome 2
Chromosome location 2q33.1
Summary 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, unl
miRNA miRNA information provided by mirtarbase database.
681 Show/Hide all (681)
miRTarBase ID miRNA Experiments Reference
MIRT036934 hsa-miR-877-3p CLASH 23622248
MIRT679095 hsa-miR-431-3p HITS-CLIP 23824327
MIRT679094 hsa-miR-383-3p HITS-CLIP 23824327
MIRT679093 hsa-miR-9-5p HITS-CLIP 23824327
MIRT679092 hsa-miR-7977 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
BCL6 Repression 22723377
GATA4 Unknown 15337742
STAT5A Repression 22723377
YBX1 Repression 20596676
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75 Show/Hide all (75)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17264123
GO:0001741 Component XY body IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 11112409, 11735126, 11948183, 12072434, 14516784, 15296745, 15507434, 15959518, 15983381, 16154161, 16189514, 16204249, 16494873, 16732283, 16763556, 17000644, 17036045, 17081985, 17099698, 17099700, 17491593, 17535915, 17942705, 17956732, 18264111, 18408014, 18617892, 18820298, 196
GO:0005634 Component Nucleus HDA 16791210
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601912 12502 ENSG00000116030
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P63165
Protein name Small ubiquitin-related modifier 1 (SUMO-1) (GAP-modifying protein 1) (GMP1) (SMT3 homolog 3) (Sentrin) (Ubiquitin-homology domain protein PIC1) (Ubiquitin-like protein SMT3C) (Smt3C) (Ubiquitin-like protein UBL1)
Protein 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
PDB 1A5R , 1TGZ , 1WYW , 1Y8R , 1Z5S , 2ASQ , 2BF8 , 2G4D , 2IO2 , 2IY0 , 2IY1 , 2KQS , 2LAS , 2MW5 , 2N1A , 2N1V , 2PE6 , 2UYZ , 2VRR , 3KYC , 3KYD , 3RZW , 3UIP , 4WJN , 4WJO , 4WJP , 4WJQ , 5AEK , 5B7A , 5ELJ , 5GHD , 6EOP , 6EOT , 6J4I , 6JXU , 6JXV , 6K5T , 6TRW , 6UYO , 6UYP , 6UYQ , 6UYR , 6UYS , 6UYT , 6UYU , 6UYV , 6UYX , 6UYY , 6UYZ , 6V7P , 6V7Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11976 Rad60-SLD 22 → 92 Ubiquitin-2 like Rad60 SUMO-like Family
Sequence
Sequence length 101
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport SUMO is conjugated to E1 (UBA2:SAE1)
Fluid shear stress and atherosclerosis SUMO is transferred from E1 to E2 (UBE2I, UBC9)
  SUMO is proteolytically processed
  SUMOylation of DNA damage response and repair proteins
  SUMO E3 ligases SUMOylate target 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
  Postmitotic nuclear pore complex (NPC) reformation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
CLEFT LIP — CTD 16990542
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft Lip +/- Cleft Palate, Autosomal Dominant Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE — CTD, Disgenet
CTD, Disgenet
16990542
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (126)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10373566, 15470359, 17823119, 20861261, 22584572, 23770046, 8806687, 9389704
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30393970, 31489957
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18675254, 27084229 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17823119, 24971881, 28342750
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24971881 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30703554
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24654937
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29969578
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 17360386, 19565496 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29969578
★★★★★
★☆☆☆☆
Found in Text Mining only