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

Gene ID: 67123, updated on 2-Apr-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 act upstream of or within protein transport. Predicted to be located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Predicted to be part of ESCRT I complex. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia. Orthologous to human UBAP1 (ubiquitin associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767

See all (22) 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)
  • Targeted (1) 
  • Endonuclease-mediated (4)  1 citation

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
  
Process Evidence Code Pubs
acts_upstream_of_or_within 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
  
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
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
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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