Gene Gene information from NCBI Gene database.
Entrez ID 51569
Gene name Ubiquitin fold modifier 1
Gene symbol UFM1
Synonyms (NCBI Gene)
BM-002C13orf20HLD14
Chromosome 13
Chromosome location 13q13.3
Summary UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al.
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs747359907 TCA>- Pathogenic Upstream transcript variant
rs1033946108 C>T Pathogenic Coding sequence variant, 3 prime UTR variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
661
miRTarBase ID miRNA Experiments Reference
MIRT028596 hsa-miR-30a-5p Proteomics 18668040
MIRT650522 hsa-miR-1298-3p HITS-CLIP 23824327
MIRT650521 hsa-miR-221-5p HITS-CLIP 23824327
MIRT650520 hsa-miR-8073 HITS-CLIP 23824327
MIRT650519 hsa-miR-1285-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20562859, 21304510, 26496610, 26872069, 27653677, 28514442, 29295865, 29868776, 30412706, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15071506, 28393202
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610553 20597 ENSG00000120686
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61960
Protein name Ubiquitin-fold modifier 1
Protein function Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to lysine residues of substrate proteins as a monomer or a lysine-linked polymer (PubMed:15071506, PubMed:20018847, PubMed:27653677, PubMed:29868776, PubMed:30626644
PDB 1WXS , 5HKH , 5IA7 , 5IA8 , 5IAA , 5L95 , 6H77 , 7W3N , 8BZR , 8OHD , 8OJ0 , 8OJ5 , 8QFC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03671 Ufm1 3 77 Ubiquitin fold modifier 1 protein Domain
Sequence
Sequence length 85
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukodystrophy, hypomyelinating, 14 Likely pathogenic; Pathogenic rs1172508646, rs747359907, rs1033946108 RCV003120201
RCV000585791
RCV000677143
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs545735907, rs2231329 RCV005909760
RCV005933318
Cervical cancer Benign; Likely benign rs545735907 RCV005909761
Familial cancer of breast Benign rs2231330 RCV005930037
Gastric cancer Benign; Likely benign rs545735907 RCV005909762
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 36082649
Anodontia Associate 28931644
Brain Diseases Associate 28931644, 29868776
Breast Neoplasms Associate 27926783, 35680375
Demyelinating Diseases Associate 34573312
Developmental Disabilities Associate 34573312
Disease Progression Associate 34573312
Failure to Thrive Associate 34573312
Gastritis Atrophic Associate 23801863
Inflammation Inhibit 28393202