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    UFD1 ubiquitin recognition factor in ER associated degradation 1 [ Homo sapiens (human) ]

    Gene ID: 7353, updated on 6-Sep-2021

    Summary

    Official Symbol
    UFD1provided by HGNC
    Official Full Name
    ubiquitin recognition factor in ER associated degradation 1provided by HGNC
    Primary source
    HGNC:HGNC:12520
    See related
    Ensembl:ENSG00000070010 MIM:601754
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UFD1L
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.2), testis (RPKM 13.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See UFD1 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19449911..19479193, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19437434..19466716, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L40 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene uncharacterized LOC105372860 Neighboring gene cell division cycle 45 Neighboring gene claudin 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu The VCP-UFD1L-NPL4 complex is required for HIV-1 Vpu-induced CD4 degradation in the ER-associated degradation pathway. The ATPase activity of VCP and ubiquitin binding to UFD1L are important for CD4 degradation by Vpu PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables K48-linked polyubiquitin modification-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables thiol-dependent deubiquitinase TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of UFD1-NPL4 complex IPI
    Inferred from Physical Interaction
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 

    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)

    NEW Try the new Transcript table

    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_001035247.3NP_001030324.2  ubiquitin recognition factor in ER-associated degradation protein 1 isoform B

      See identical proteins and their annotated locations for NP_001030324.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (B) has a distinct C-terminus and is shorter than isoform A.
      Source sequence(s)
      AC000068, AK225877, AW131352, CB128364, DB496066, DB570679
      Consensus CDS
      CCDS33600.2
      UniProtKB/Swiss-Prot
      Q92890
      Related
      ENSP00000382439.1, ENST00000399523.5
      Conserved Domains (1) summary
      pfam03152
      Location:19193
      UFD1; Ubiquitin fusion degradation protein UFD1
    2. NM_001362910.2NP_001349839.1  ubiquitin recognition factor in ER-associated degradation protein 1 isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and is predicted to use a downstream start codon compared to variant 1. The encoded isoform (C) has a shorter N-terminus compared to isoform A.
      Source sequence(s)
      AC000068, AC000087
      Conserved Domains (1) summary
      pfam03152
      Location:14188
      UFD1; Ubiquitin fusion degradation protein UFD1
    3. NM_005659.7NP_005650.2  ubiquitin recognition factor in ER-associated degradation protein 1 isoform A

      See identical proteins and their annotated locations for NP_005650.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1)encodes the longest isoform (A).
      Source sequence(s)
      AC000068, AW131352, BC005087, CB128364, DB570679
      Consensus CDS
      CCDS13761.1
      UniProtKB/Swiss-Prot
      Q92890
      UniProtKB/TrEMBL
      Q541A5
      Related
      ENSP00000263202.9, ENST00000263202.15
      Conserved Domains (1) summary
      pfam03152
      Location:19193
      UFD1; Ubiquitin fusion degradation protein UFD1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19449911..19479193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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