Basic Information

Symbol
UFD1
RNA class
mRNA
Alias
Ubiquitin Recognition Factor In ER Associated Degradation 1 UFD1L Ubiquitin Recognition Factor In ER-Associated Degradation Protein 1 UB Fusion Protein 1 Ubiquitin Fusion Degradation Protein 1 Homolog Ubiquitin Fusion Degradation 1 Like (Yeast) Ubiquitin Fusion Degradation Protein 1 Ubiquitin Fusion Degradation 1-Like Ubiquitin Fusion Degradation 1 Like
Location (GRCh38)
22:19449911-19479215
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005659.7
Sequence length
1791.0 nt
GC content
0.4612

Transcripts

ID Sequence Length GC content
NM_001035247.3 NCBI
GUACCGGCUUGGCGCGGCGGCAGCGGCAGCGGCGGCUGGGAGAGCGGUC… 1738 nt 0.4638
NM_001362910.2 NCBI
GUACCGGCUUGGCGCGGCGGCAGCGGCAGCGGCGGCUGGGAGAGCGGUC… 2049 nt 0.4934
NM_005659.7 NCBI
GUACCGGCUUGGCGCGGCGGCAGCGGCAGCGGCGGCUGGGAGAGCGGUC… 1791 nt 0.4612
Summary

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]

Forensic Context

A study in mice demonstrated that chronic methamphetamine administration significantly dysregulates the UFD1 in microglia, where it is involved in the protein processing of endoplasmic reticulum pathway [Oladapo et al. DOI:10.3390/Ijms26020649].