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

Gene ID: 71169, updated on 5-Mar-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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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)
  • Targeted (2) 
  • Endonuclease-mediated (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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