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    Nbas neuroblastoma amplified sequence [ Mus musculus (house mouse) ]

    Gene ID: 71169, updated on 9-May-2024

    Summary

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    Official Symbol
    Nbasprovided by MGI
    Official Full Name
    neuroblastoma amplified sequenceprovided by MGI
    Primary source
    MGI:MGI:1918419
    See related
    Ensembl:ENSMUSG00000020576 AllianceGenome:MGI:1918419
    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
    Nag; 4933425L03Rik
    Summary
    Predicted to enable SNARE binding activity. Predicted to be involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be part of Dsl1/NZR complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; connective tissue; limb; nervous system; and skeleton. Human ortholog(s) of this gene implicated in infantile liver failure syndrome. Orthologous to human NBAS (NBAS subunit of NRZ tethering complex). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 6.1), cerebellum adult (RPKM 3.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nbas in Genome Data Viewer
    Location:
    12 A1.1; 12 6.45 cM
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (13319102..13687381)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (13269101..13637380)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 50500 Neighboring gene predicted gene, 24208 Neighboring gene DEAD box helicase 1 Neighboring gene STARR-seq mESC enhancer starr_31598 Neighboring gene STARR-seq mESC enhancer starr_31599 Neighboring gene derlin-1-like Neighboring gene predicted gene 6736 Neighboring gene predicted gene, 24142 Neighboring gene predicted gene, 22170 Neighboring gene predicted gene, 35725 Neighboring gene predicted gene, 35890 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

    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. Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression. Strogantsev R, et al. Genome Biol, 2015 May 30. PMID 26025256, Free PMC Article
    2. Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. Palagano E, et al. Bone, 2018 Sep. PMID 29929043
    3. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    4. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (16) 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 (2) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SNARE binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nuclear-transcribed mRNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Dsl1/NZR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Dsl1/NZR complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NBAS subunit of NRZ tethering complex
    Names
    neuroblastoma-amplified protein

    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_001403520.1 → NP_001390449.1  NBAS subunit of NRZ tethering complex isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC154517, AC159250, CT025539, CT030206

    2. NM_027706.2 → NP_081982.1  NBAS subunit of NRZ tethering complex isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC154517, AC159250, CT025539, CT030206
      Consensus CDS
      CCDS49031.1
      UniProtKB/TrEMBL
      E9Q411
      Related
      ENSMUSP00000036082.9, ENSMUST00000042953.10
      Conserved Domains (2) summary
      pfam08314
      Location:725 → 1369
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:89 → 370
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      13319102..13687381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243895.3 → XP_011242197.1  NBAS subunit of NRZ tethering complex isoform X4

      Conserved Domains (2) summary
      pfam08314
      Location:725 → 1369
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:89 → 370
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    2. XM_006515215.2 → XP_006515278.2  NBAS subunit of NRZ tethering complex isoform X1

      Conserved Domains (2) summary
      pfam08314
      Location:725 → 1369
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:89 → 370
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    3. XM_006515217.2 → XP_006515280.2  NBAS subunit of NRZ tethering complex isoform X3

      Conserved Domains (2) summary
      pfam08314
      Location:725 → 1369
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:89 → 370
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    4. XM_030246924.1 → XP_030102784.1  NBAS subunit of NRZ tethering complex isoform X5

      UniProtKB/TrEMBL
      Q6GQV6
      Conserved Domains (2) summary
      pfam08314
      Location:565 → 1209
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:1 → 210
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    5. XM_036157613.1 → XP_036013506.1  NBAS subunit of NRZ tethering complex isoform X6

      UniProtKB/TrEMBL
      Q6GQV6
      Conserved Domains (2) summary
      pfam08314
      Location:403 → 1042
      Sec39; Secretory pathway protein Sec39
      pfam15492
      Location:1 → 48
      Nbas_N; Neuroblastoma-amplified sequence, N terminal

    RNA

    1. XR_004937544.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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