UFC1

Chr 1AR

ubiquitin-fold modifier conjugating enzyme 1

Also known as: HSPC155, NEDSG

NCBI Gene: 51506 ENSG00000143222 UniProt: Q9Y3C8 OMIM: 610554

UFC1 encodes an E2-like enzyme that catalyzes the conjugation of ubiquitin-fold modifier-1 (UFM1) to target proteins, a process involved in ribosome recycling, DNA damage response, and reticulophagy. Autosomal recessive mutations cause a neurodevelopmental disorder with spasticity and poor growth. The gene shows tolerance to loss-of-function variants (pLI 0.004, LOEUF 0.91), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.911 OMIM phenotype

Clinical Summary— UFC1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

6 unique Pathogenic / Likely Pathogenic· 25 VUS of 51 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.91LOEUF

pLI 0.004

Z-score 1.82

OE 0.46 (0.25–0.91)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.23Z-score

OE missense 0.93 (0.79–1.11)

89 obs / 95.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.46 (0.25–0.91)

0≤0.351.4

Missense OE?0.93 (0.79–1.11)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 6 / 13.1Missense obs/exp: 89 / 95.4Syn Z: 0.27

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3

Likely Pathogenic3

VUS25

Likely Benign5

Benign1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	3	0	0	3
Likely Pathogenic	1	2	0	3
VUS	24	1	0	25
Likely Benign	1	0	4	5
Benign	0	1	0	1
Total	29	4	4	37

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

12 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap UFC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →