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    Carns1 carnosine synthase 1 [ Mus musculus (house mouse) ]

    Gene ID: 107239, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Carns1provided by MGI
    Official Full Name
    carnosine synthase 1provided by MGI
    Primary source
    MGI:MGI:2147595
    See related
    Ensembl:ENSMUSG00000075289 AllianceGenome:MGI:2147595
    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
    Atpgd1; mKIAA1394
    Summary
    Enables ATP hydrolysis activity; carnosine synthase activity; and homocarnosine synthase activity. Involved in carnosine biosynthetic process. Is expressed in alimentary system; nervous system; and sensory organ. Orthologous to human CARNS1 (carnosine synthase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen adult (RPKM 15.2), thymus adult (RPKM 15.2) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Carns1 in Genome Data Viewer
    Location:
    19 A; 19 3.86 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (4214323..4227390, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (4164324..4175479, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:4155019-4155206 Neighboring gene STARR-positive B cell enhancer ABC_E5675 Neighboring gene protein tyrosine phosphatase receptor type C polypeptide-associated protein Neighboring gene ribosomal protein S6 kinase, polypeptide 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:4184956-4185264 Neighboring gene TBC1 domain family, member 10c Neighboring gene STARR-positive B cell enhancer ABC_E11010 Neighboring gene protein phosphatase 1 catalytic subunit alpha Neighboring gene RAD9 checkpoint clamp component A

    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. Pharmacokinetics and tissue distribution of orally administrated imidazole dipeptides in carnosine synthase gene knockout mice. Sakano T, et al. Biosci Biotechnol Biochem, 2022 Aug 24. PMID 35641020
    2. Carnosine synthase deficiency in mice affects protein metabolism in skeletal muscle. Wu J, et al. Biochem Biophys Res Commun, 2022 Jul 5. PMID 35500438
    3. Carnosine synthase deficiency is compatible with normal skeletal muscle and olfactory function but causes reduced olfactory sensitivity in aging mice. Wang-Eckhardt L, et al. J Biol Chem, 2020 Dec 11. PMID 33040025, Free PMC Article
    4. Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1). Drozak J, et al. J Biol Chem, 2010 Mar 26. PMID 20097752, Free PMC Article
    5. Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase. Veiga-da-Cunha M, et al. J Biol Chem, 2014 Jul 11. PMID 24891507, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Carnosine synthase deficiency is compatible with normal skeletal muscle and olfactory function but causes reduced olfactory sensitivity in aging mice.
      Title: Carnosine synthase deficiency is compatible with normal skeletal muscle and olfactory function but causes reduced olfactory sensitivity in aging mice.
    2. carnosine synthase is identified as ATP-grasp domain-containing protein 1
      Title: Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carnosine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carnosine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carnosine synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables homocarnosine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables homocarnosine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables homocarnosine synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carnosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within carnosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in carnosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within carnosine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in carnosine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    carnosine synthase 1
    Names
    ATP-grasp domain containing 1
    ATP-grasp domain-containing protein 1
    NP_001390976.1
    NP_598909.2
    XP_036017269.1
    XP_036017270.1
    XP_036017272.1
    XP_036017273.1

    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_001404047.1 → NP_001390976.1  carnosine synthase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC109138
      UniProtKB/Swiss-Prot
      Q6ZPS2, Q8CIK7, Q8VE56
      Conserved Domains (2) summary
      PRK02186
      Location:482 → 735
      PRK02186; argininosuccinate lyase; Provisional
      pfam18130
      Location:411 → 491
      ATPgrasp_N; ATP-grasp N-terminal domain

    2. NM_134148.3 → NP_598909.2  carnosine synthase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC109138
      Consensus CDS
      CCDS50350.1
      UniProtKB/TrEMBL
      E9PX09
      Related
      ENSMUSP00000131624.2, ENSMUST00000167055.2
      Conserved Domains (1) summary
      pfam13535
      Location:620 → 819
      ATP-grasp_4; ATP-grasp domain

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      4214323..4227390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161376.1 → XP_036017269.1  carnosine synthase 1 isoform X1

      Conserved Domains (2) summary
      PRK02186
      Location:688 → 941
      PRK02186; argininosuccinate lyase; Provisional
      pfam18130
      Location:617 → 697
      ATPgrasp_N; ATP-grasp N-terminal domain

    2. XM_036161380.1 → XP_036017273.1  carnosine synthase 1 isoform X4

      Conserved Domains (2) summary
      PRK02186
      Location:101 → 354
      PRK02186; argininosuccinate lyase; Provisional
      pfam18130
      Location:30 → 110
      ATPgrasp_N; ATP-grasp N-terminal domain

    3. XM_036161377.1 → XP_036017270.1  carnosine synthase 1 isoform X2

      Conserved Domains (2) summary
      PRK02186
      Location:532 → 785
      PRK02186; argininosuccinate lyase; Provisional
      pfam18130
      Location:461 → 541
      ATPgrasp_N; ATP-grasp N-terminal domain

    4. XM_036161379.1 → XP_036017272.1  carnosine synthase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q6ZPS2, Q8CIK7, Q8VE56
      Conserved Domains (2) summary
      PRK02186
      Location:482 → 735
      PRK02186; argininosuccinate lyase; Provisional
      pfam18130
      Location:411 → 491
      ATPgrasp_N; ATP-grasp N-terminal domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZPS2.2 GenPept UniProtKB/Swiss-Prot:Q6ZPS2

    Gene LinkOut

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