Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51569
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin fold modifier 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UFM1
Synonyms (NCBI Gene) Gene synonyms aliases
BM-002, C13orf20, HLD14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HLD14
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20562859, 21304510, 26496610, 26872069, 27653677, 28514442, 29295865, 29868776, 30412706, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 15071506, 28393202
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 15071506, 28393202
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610553 20597 ENSG00000120686
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypomyelinating leukodystrophy LEUKODYSTROPHY, HYPOMYELINATING, 14 rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809
View all (91 more)
30914295, 29868776, 28931644
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
29868776
Unknown
Disease term Disease name Evidence References Source
Leukodystrophy hypomyelinating leukodystrophy 6 GenCC
Hypomyelinating Leukodystrophy leukodystrophy, hypomyelinating, 14 GenCC
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
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