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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

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