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

Gene ID: 70396, updated on 27-Nov-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, Nov 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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