UFC1
Ubiquitin-fold modifier-conjugating enzyme 1
Also known as: HSPC155, UFC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y3C8
- Gene
- UFC1
- Ensembl
- ENSG00000143222
- Chromosome
- 1
- Canonical length
- 167 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
167 residues, UniProt reviewed canonical sequence.
>Q9Y3C8|UFC1
1 MADEATRRVV SEIPVLKTNA GPRDRELWVQ RLKEEYQSLI RYVENNKNAD NDWFRLESNK
61 EGTRWFGKCW YIHDLLKYEF DIEFDIPITY PTTAPEIAVP ELDGKTAKMY RGGKICLTDH
121 FKPLWARNVP KFGLAHLMAL GLGPWLAVEI PDLIQKGVIQ HKEKCNQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UFC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 207 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 207 nTPM
- fallopian tube: 197 nTPM
- basal ganglia: 170 nTPM
- choroid plexus: 168 nTPM
- amygdala: 164 nTPM
- epididymis: 161 nTPM
Single-cell type
- esophageal apical cells: 775 nCPM
- respiratory ciliated cells: 749 nCPM
- late spermatids: 637 nCPM
- fallopian tube ciliated cells: 596 nCPM
- syncytiotrophoblasts: 552 nCPM
- extravillous trophoblasts: 513 nCPM
Immune cell
- T-reg: 275 nTPM
- total PBMC: 268 nTPM
- MAIT T-cell: 213 nTPM
- memory B-cell: 210 nTPM
- NK-cell: 209 nTPM
- plasmacytoid DC: 207 nTPM
Brain region
- hypothalamus: 95 nTPM
- medulla oblongata: 82 nTPM
- white matter: 76 nTPM
- midbrain: 73 nTPM
- cerebral cortex: 73 nTPM
- spinal cord: 73 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UFC1.
Disease | AllUniProt
Conditions UFC1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with spasticity and poor growth (NEDSG) MIM:618076
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 51 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with spasticity and poor growth
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.39
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- protein K69-linked ufmylation
- protein ufmylation
- regulation of type II interferon production
- response to endoplasmic reticulum stress
- reticulophagy
Molecular functions
- UFM1 transferase activity
- UFM1 conjugating enzyme activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ubiquitin-conjugating enzyme/RWD-like
- Ubiquitin-fold modifier-conjugating enzyme 1
- Ubiquitin-fold modifier-conjugating enzyme 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UFC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UFC1 as an antibody target. Whether an autoantibody or antibody against UFC1 could matter depends on whether native UFC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UFC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UFC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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