UFM1

Chr 13q13.3

ubiquitin fold modifier 1

Aliases:: bA131P10.1
MANE:: ENST00000239878.9

OMIM: 610553 ↗NCBI: 51569 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

UFM1 · P61960

v62025-08-01

Predicted Aligned Error matrix for UFM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.6/ 100

Very high

85 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)4%
Low(50–70)6%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hypomyelination with atrophy of basal ganglia and cerebellum
0.75
neurodegenerative disease
0.55
microcephaly
0.37
schizophrenia
0.32
lysosomal storage disease
0.31
Romano-Ward syndrome
0.26
familial long QT syndrome
0.26
glomerulonephritis
0.25
muscular disease
0.24
tooth disorder
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquitin-fold modifier 1

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, PubMed:38377992, PubMed:38383785). The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1 (PubMed:15071506, PubMed:20018847, PubMed:27653677, PubMed:29868776). Ufmylation is involved in various processes, such as ribosome recycling, response to DNA damage, transcription or reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress (PubMed:25219498, PubMed:32160526, PubMed:38383785)