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    Asnsd1 asparagine synthetase domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 70396, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Asnsd1provided by MGI
    Official Full Name
    asparagine synthetase domain containing 1provided by MGI
    Primary source
    MGI:MGI:1917646
    See related
    Ensembl:ENSMUSG00000026095 AllianceGenome:MGI:1917646
    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
    2210409M21Rik
    Summary
    Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Acts upstream of or within adipose tissue development; skeletal muscle tissue development; and transdifferentiation. Is expressed in body cavity or lining; limb; tail; and vertebral axis musculature. Used to study myopathy. Orthologous to human ASNSD1 (asparagine synthetase domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 29.7), CNS E11.5 (RPKM 15.1) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Asnsd1 in Genome Data Viewer
    Location:
    1 C1.1; 1 26.99 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (53383776..53391911, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (53344617..53352752, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:53370474-53370583 Neighboring gene STARR-seq mESC enhancer starr_00913 Neighboring gene ORM1-like 1 (S. cerevisiae) Neighboring gene O-sialoglycoprotein endopeptidase-like 1 Neighboring gene STARR-positive B cell enhancer ABC_E2543 Neighboring gene ankyrin and armadillo repeat containing pseudogene Neighboring gene Asnsd1 upstream reading frame Neighboring gene predicted gene, 53553 Neighboring gene solute carrier family 39 (zinc transporter), member 10 pseudogene Neighboring gene dynein, axonemal, heavy chain 7A

    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. Progressive Degenerative Myopathy and Myosteatosis in ASNSD1-Deficient Mice. Vogel P, et al. Vet Pathol, 2020 Sep. PMID 32638637
    2. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    3. 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
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (15) 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) 
    • Gene trapped (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables asparagine synthase (glutamine-hydrolyzing) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in asparagine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within transdifferentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    asparagine synthetase domain-containing 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_001290984.1 → NP_001277913.1  asparagine synthetase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001277913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AA170909, AK168534
      Consensus CDS
      CCDS69888.1
      UniProtKB/TrEMBL
      Q3TGY6
      Related
      ENSMUSP00000139025.2, ENSMUST00000123519.9
      Conserved Domains (1) summary
      cd01991
      Location:5 → 126
      Asn_Synthase_B_C; The C-terminal domain of Asparagine Synthase B. This domain is always found associated n-terminal amidotransferase domain. Family members that contain this domain catalyse the conversion of aspartate to asparagine. Asparagine synthetase B catalyzes the ...

    2. NM_133728.3 → NP_598489.2  asparagine synthetase domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_598489.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA170909, AK031295, AK168534
      Consensus CDS
      CCDS14954.1
      UniProtKB/Swiss-Prot
      Q3THX2, Q3U2Y8, Q3U317, Q8BFS9, Q8BM66, Q91YY3
      Related
      ENSMUSP00000027264.4, ENSMUST00000027264.10
      Conserved Domains (3) summary
      cd01991
      Location:322 → 603
      Asn_Synthase_B_C; The C-terminal domain of Asparagine Synthase B. This domain is always found associated n-terminal amidotransferase domain. Family members that contain this domain catalyse the conversion of aspartate to asparagine. Asparagine synthetase B catalyzes the ...
      cd03766
      Location:1 → 179
      Gn_AT_II_novel; Gn_AT_II_novel. This asparagine synthase-related domain is present in eukaryotes but its function has not yet been determined. The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, ...
      TIGR01536
      Location:27 → 599
      asn_synth_AEB; asparagine synthase (glutamine-hydrolyzing)

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      53383776..53391911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BFS9.1 GenPept UniProtKB/Swiss-Prot:Q8BFS9

    Gene LinkOut

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