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Ufd1 ubiquitin recognition factor in ER-associated degradation 1 [ Mus musculus (house mouse) ]

Gene ID: 22230, updated on 5-Jan-2023

Summary

Official Symbol
Ufd1provided by MGI
Official Full Name
ubiquitin recognition factor in ER-associated degradation 1provided by MGI
Primary source
MGI:MGI:109353
See related
Ensembl:ENSMUSG00000005262 AllianceGenome:MGI:109353
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ufd1l
Summary
Enables K48-linked polyubiquitin modification-dependent protein binding activity. Predicted to be involved in ERAD pathway; negative regulation of RIG-I signaling pathway; and negative regulation of type I interferon production. Located in cytoplasm. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. Is expressed in several structures, including brain; branchial arch; cardiovascular system; forelimb bud; and sensory organ. Human ortholog(s) of this gene implicated in DiGeorge syndrome and schizophrenia. Orthologous to human UFD1 (ubiquitin recognition factor in ER associated degradation 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 28.2), CNS E14 (RPKM 15.4) and 28 other tissues See more
Orthologs
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Genomic context

See Ufd1 in Genome Data Viewer
Location:
16 A3; 16 11.65 cM
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (18630486..18654011)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18811736..18835261)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene claudin 5 Neighboring gene cell division cycle 45 Neighboring gene predicted gene, 52240 Neighboring gene RIKEN cDNA 2510002D24 gene Neighboring gene mitochondrial ribosomal protein L40 Neighboring gene histone cell cycle regulator

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
 
enables K48-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of UFD1-NPL4 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of UFD1-NPL4 complex ISO
Inferred from Sequence Orthology
more info
 
part_of VCP-NPL4-UFD1 AAA ATPase complex EXP
Inferred from Experiment
more info
PubMed 
part_of VCP-NPL4-UFD1 AAA ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of VCP-NPL4-UFD1 AAA ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of VCP-NPL4-UFD1 AAA ATPase complex ISO
Inferred from Sequence Orthology
more info
 
part_of VCP-NPL4-UFD1 AAA ATPase complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ubiquitin recognition factor in ER-associated degradation protein 1
Names
UB fusion protein 1
ubiquitin fusion degradation 1 like
ubiquitin fusion degradation protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_011672.4NP_035802.3  ubiquitin recognition factor in ER-associated degradation protein 1

    See identical proteins and their annotated locations for NP_035802.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding transcript.
    Source sequence(s)
    AK147138, AW544149, CJ085208
    Consensus CDS
    CCDS28028.1
    UniProtKB/Swiss-Prot
    P70362, Q923C4
    Related
    ENSMUSP00000005394.7, ENSMUST00000005394.13
    Conserved Domains (1) summary
    pfam03152
    Location:19193
    UFD1; Ubiquitin fusion degradation protein UFD1

RNA

  1. NR_028403.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1, that causes a frameshift. This transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore not thought to encode a protein.
    Source sequence(s)
    AK147138, AW544149, CJ053815, CJ085208

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    18630486..18654011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006522006.4XP_006522069.1  ubiquitin recognition factor in ER-associated degradation protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006522069.1

    Conserved Domains (1) summary
    pfam03152
    Location:14188
    UFD1; Ubiquitin fusion degradation protein UFD1
  2. XM_006522007.4XP_006522070.1  ubiquitin recognition factor in ER-associated degradation protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006522070.1

    Conserved Domains (1) summary
    pfam03152
    Location:3150
    UFD1; Ubiquitin fusion degradation protein UFD1
  3. XM_006522005.4XP_006522068.1  ubiquitin recognition factor in ER-associated degradation protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006522068.1

    UniProtKB/Swiss-Prot
    P70362, Q923C4
    Related
    ENSMUSP00000111241.4, ENSMUST00000115578.10
    Conserved Domains (1) summary
    pfam03152
    Location:19193
    UFD1; Ubiquitin fusion degradation protein UFD1