Entity Details

Primary name UFM1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP61960
EntryNameUFM1_HUMAN
FullNameUbiquitin-fold modifier 1
TaxID9606
Evidenceevidence at protein level
Length85
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesUFM1

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0007420 brain development
GO:0033146 regulation of intracellular estrogen receptor signaling pathway
GO:0034976 response to endoplasmic reticulum stress
GO:0042308 negative regulation of protein import into nucleus
GO:0043066 negative regulation of apoptotic process
GO:0061709 reticulophagy
GO:0071569 protein ufmylation
GO:1990592 protein K69-linked ufmylation

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR005375 Ubiquitin-fold modifier 1FamilyFamily
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617899 OMIMLeukodystrophy, hypomyelinating, 14 (HLD14)An autosomal recessive, severe disorder characterized by atrophy of the basal ganglia and cerebellum, hypomyelination, severe developmental delay, typically without intentional movements and language development, and microcephaly. Almost all patients exhibit spasticity, extrapyramidal movement abnormalities, and severe drug-resistant epilepsy. Disease onset is early in infancy, and most patients die in the first years of life. The disease is caused by variants affecting the gene represented in this entry. The disease-causing variant may be a homozygous 3-bp deletion in the promoter region of the UFM1 gene, which segregates with the disorder in affected families. In vitro expression studies in different cell lines showed that the mutation significantly reduces transcriptional activity in certain neuronal cell lines (SY5Y and U373), but not in other cell lines, including HeLa and HOF-F2.