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    Ubap1 ubiquitin-associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 67123, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ubap1provided by MGI
    Official Full Name
    ubiquitin-associated protein 1provided by MGI
    Primary source
    MGI:MGI:2149543
    See related
    Ensembl:ENSMUSG00000028437 AllianceGenome:MGI:2149543
    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
    Ubap; NAG20; UBAP-1; 2700092A01Rik
    Summary
    Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Predicted to be part of ESCRT I complex. Used to study hereditary spastic paraplegia 80. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 80. Orthologous to human UBAP1 (ubiquitin associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 11.0), kidney adult (RPKM 8.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ubap1 in Genome Data Viewer
    Location:
    4 A5; 4 21.43 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (41348996..41389766)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (41348996..41389766)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene DDB1 and CUL4 associated factor 12 Neighboring gene STARR-positive B cell enhancer ABC_E6163 Neighboring gene STARR-seq mESC enhancer starr_10032 Neighboring gene predicted gene, 46891 Neighboring gene STARR-positive B cell enhancer mm9_chr4:41295845-41296146 Neighboring gene predicted gene, 26084 Neighboring gene kinesin family member 24 Neighboring gene STARR-seq mESC enhancer starr_10033 Neighboring gene STARR-positive B cell enhancer ABC_E277 Neighboring gene nudix hydrolase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ubap1 knock-in mice reproduced the phenotype of SPG80. Shimozono K, et al. J Hum Genet, 2022 Dec. PMID 35962060, Free PMC Article
    2. UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. Nan H, et al. J Hum Genet, 2019 Nov. PMID 31515522
    3. Isolation and characterization of a novel cDNA, UBAP1, derived from the tumor suppressor locus in human chromosome 9p21-22. Qian J, et al. J Cancer Res Clin Oncol, 2001 Oct. PMID 11599797
    4. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Lin X, et al. Brain, 2019 Aug 1. PMID 31203368
    5. ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells. Lu D, et al. Cell Rep, 2024 Mar 26. PMID 38402586

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4)  1 citation
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ESCRT I complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-associated protein 1

    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_001290454.1 → NP_001277383.1  ubiquitin-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001277383.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK009596, BC065996, BY127131
      Consensus CDS
      CCDS71361.1
      UniProtKB/TrEMBL
      Q3TQY7
      Related
      ENSMUSP00000103695.4, ENSMUST00000108060.10
      Conserved Domains (1) summary
      cd14316
      Location:399 → 435
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    2. NM_001355508.1 → NP_001342437.1  ubiquitin-associated protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AL807823, BC065996
      Consensus CDS
      CCDS51140.1
      UniProtKB/Swiss-Prot
      Q8BH48, Q8BQ80, Q8BSW6, Q9D749, Q9ERV5
      Conserved Domains (2) summary
      cd14315
      Location:388 → 430
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:460 → 496
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    3. NM_001355509.1 → NP_001342438.1  ubiquitin-associated protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      BC065996, BY127131, CJ152064
      Conserved Domains (2) summary
      cd14315
      Location:80 → 122
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:152 → 188
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    4. NM_023305.3 → NP_075794.3  ubiquitin-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_075794.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC065996, BY127131
      Consensus CDS
      CCDS51140.1
      UniProtKB/Swiss-Prot
      Q8BH48, Q8BQ80, Q8BSW6, Q9D749, Q9ERV5
      Related
      ENSMUSP00000072643.6, ENSMUST00000072866.12
      Conserved Domains (2) summary
      cd14315
      Location:388 → 430
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:460 → 496
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      41348996..41389766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538198.5 → XP_006538261.1  ubiquitin-associated protein 1 isoform X2

      Conserved Domains (2) summary
      cd14315
      Location:338 → 380
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:410 → 446
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    2. XM_006538196.4 → XP_006538259.1  ubiquitin-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006538259.1

      UniProtKB/Swiss-Prot
      Q8BH48, Q8BQ80, Q8BSW6, Q9D749, Q9ERV5
      Conserved Domains (2) summary
      cd14315
      Location:388 → 430
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:460 → 496
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    3. XM_036164360.1 → XP_036020253.1  ubiquitin-associated protein 1 isoform X3

      Conserved Domains (2) summary
      cd14315
      Location:80 → 122
      UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)
      cd14316
      Location:152 → 188
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BH48.1 GenPept UniProtKB/Swiss-Prot:Q8BH48

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