UFD1
Ubiquitin recognition factor in ER-associated degradation protein 1
Also known as: UFD1_HUMAN, UFD1L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92890
- Gene
- UFD1
- Ensembl
- ENSG00000070010
- Chromosome
- 22
- Canonical length
- 307 aa
- Protein class
- Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Nucleoli,Cytosol
OverviewNCBI Gene
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
Canonical amino-acid sequenceUniProt
307 residues, UniProt reviewed canonical sequence.
>Q92890|UFD1
1 MFSFNMFDHP IPRVFQNRFS TQYRCFSVSM LAGPNDRSDV EKGGKIIMPP SALDQLSRLN
61 ITYPMLFKLT NKNSDRMTHC GVLEFVADEG ICYLPHWMMQ NLLLEEGGLV QVESVNLQVA
121 TYSKFQPQSP DFLDITNPKA VLENALRNFA CLTTGDVIAI NYNEKIYELR VMETKPDKAV
181 SIIECDMNVD FDAPLGYKEP ERQVQHEEST EGEADHSGYA GELGFRAFSG SGNRLDGKKK
241 GVEPSPSPIK PGDIKRGIPN YEFKLGKITF IRNSRPLVKK VEEDEAGGRF VAFSGEGQSL
301 RKKGRKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UFD1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 93 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 93 nTPM
- bone marrow: 61 nTPM
- thymus: 57 nTPM
- epididymis: 51 nTPM
- blood vessel: 50 nTPM
- testis: 50 nTPM
Single-cell type
- early spermatids: 386 nCPM
- late spermatids: 336 nCPM
- syncytiotrophoblasts: 222 nCPM
- esophageal apical cells: 174 nCPM
- late primary spermatocytes: 171 nCPM
- cytotrophoblasts: 153 nCPM
Immune cell
- T-reg: 225 nTPM
- neutrophil: 169 nTPM
- eosinophil: 159 nTPM
- basophil: 153 nTPM
- non-classical monocyte: 142 nTPM
- intermediate monocyte: 141 nTPM
Brain region
- pons: 30 nTPM
- medulla oblongata: 29 nTPM
- white matter: 29 nTPM
- hypothalamus: 27 nTPM
- thalamus: 25 nTPM
- cerebellum: 25 nTPM
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)
- 0.23
- gnomAD pLI
- 1
- DepMap mean gene effect
- -1.41
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to misfolded protein
- ERAD pathway
- negative regulation of RIG-I signaling pathway
- negative regulation of type I interferon production
- proteasome-mediated ubiquitin-dependent protein catabolic process
- retrograde protein transport, ER to cytosol
- skeletal system development
- ubiquitin-dependent protein catabolic process
Molecular functions
- cysteine-type deubiquitinase activity
- K48-linked polyubiquitin modification-dependent protein binding
- polyubiquitin modification-dependent protein binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ubiquitin fusion degradation protein UFD1-like
- UFD1-like, Nn domain
- Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 1
- Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 2
- Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 1
- Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UFD1 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 UFD1 as an antibody target. Whether an autoantibody or antibody against UFD1 could matter depends on whether native UFD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UFD1 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 UFD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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