Human Gene UFD1 (ENST00000474226.1) from GENCODE V44
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt C9J7C8)
RefSeq Summary (NM_001035247): 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].
Gencode Transcript: ENST00000474226.1
Gencode Gene: ENSG00000070010.19
Transcript (Including UTRs)
   Position: hg38 chr22:19,467,895-19,479,144 Size: 11,250 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr22:19,467,895-19,471,785 Size: 3,891 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:19,467,895-19,479,144)mRNA (may differ from genome)Protein (69 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblExonPrimerGencodeGeneCardsLynxMalacards
MGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: C9J7C8_HUMAN
DESCRIPTION: SubName: Full=Ubiquitin fusion degradation protein 1 homolog; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UFD1
Diseases sorted by gene-association score: velocardiofacial syndrome* (50), inclusion body myopathy with paget disease of bone and frontotemporal dementia (12), digeorge syndrome (10), tetralogy of fallot (6), chromosomal deletion syndrome (1), dementia, frontotemporal (1)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.60 RPKM in Testis
Total median expression: 783.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.4085-0.311 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004854 - UFD1

Pfam Domains:
PF03152 - Ubiquitin fusion degradation protein UFD1

ModBase Predicted Comparative 3D Structure on C9J7C8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  LF210540 - JP 2014500723-A/18043: Polycomb-Associated Non-Coding RNAs.
MA446117 - JP 2018138019-A/18043: Polycomb-Associated Non-Coding RNAs.
BC005087 - Homo sapiens ubiquitin fusion degradation 1 like (yeast), mRNA (cDNA clone MGC:13073 IMAGE:3830774), complete cds.
BX648483 - Homo sapiens mRNA; cDNA DKFZp686N1355 (from clone DKFZp686N1355).
AK225877 - Homo sapiens mRNA for ubiquitin fusion degradation 1-like, clone: FCC123H12.
BC001049 - Homo sapiens ubiquitin fusion degradation 1 like (yeast), mRNA (cDNA clone MGC:1385 IMAGE:3507963), complete cds.
U64444 - Homo sapiens ubiquitin fusion-degradation 1 like protein (UFD1L) mRNA, complete cds.
AY101594 - Homo sapiens ubiquitin fusion degradation 1-like mRNA, complete cds.
CR456607 - Homo sapiens UFD1L full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.UFD1L).
AF141201 - Homo sapiens ubiquitin fusion-degradation 1 protein (UFD1) mRNA, complete cds.
AJ239058 - Homo sapiens mRNA for ubiquitin fusion degradation 1 protein (ufd1 gene).
CU013203 - Homo sapiens UFD1L, mRNA (cDNA clone IMAGE:100000556), complete cds, with stop codon, in Gateway system.
KJ892354 - Synthetic construct Homo sapiens clone ccsbBroadEn_01748 UFD1L gene, encodes complete protein.
AB528271 - Synthetic construct DNA, clone: pF1KE0550, Homo sapiens UFD1L gene for ubiquitin fusion degradation 1 like, without stop codon, in Flexi system.
AM392868 - Synthetic construct Homo sapiens clone IMAGE:100002100 for hypothetical protein (UFD1L gene).
CU013491 - Homo sapiens UFD1L, mRNA (cDNA clone IMAGE:100000460), complete cds, without stop codon, in Gateway system.
CU674530 - Synthetic construct Homo sapiens gateway clone IMAGE:100018815 5' read UFD1L mRNA.
AK310950 - Homo sapiens cDNA, FLJ17992.
AK315998 - Homo sapiens cDNA, FLJ78897 complete cds, highly similar to Ubiquitin fusion degradation protein 1 homolog.
AK304734 - Homo sapiens cDNA FLJ59614 complete cds, highly similar to Ubiquitin fusion degradation protein 1 homolog.
AK308786 - Homo sapiens cDNA, FLJ98827.
LF338636 - JP 2014500723-A/146139: Polycomb-Associated Non-Coding RNAs.
MA574213 - JP 2018138019-A/146139: Polycomb-Associated Non-Coding RNAs.
LF210541 - JP 2014500723-A/18044: Polycomb-Associated Non-Coding RNAs.
MA446118 - JP 2018138019-A/18044: Polycomb-Associated Non-Coding RNAs.
LF338635 - JP 2014500723-A/146138: Polycomb-Associated Non-Coding RNAs.
MA574212 - JP 2018138019-A/146138: Polycomb-Associated Non-Coding RNAs.
JD409107 - Sequence 390131 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK225877, C9J7C8, C9J7C8_HUMAN, uc062bme.1, UFD1L
UCSC ID: ENST00000474226.1
RefSeq Accession: NM_001035247
Protein: C9J7C8

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.