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    CARNS1 carnosine synthase 1 [ Homo sapiens (human) ]

    Gene ID: 57571, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CARNS1provided by HGNC
    Official Full Name
    carnosine synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:29268
    See related
    Ensembl:ENSG00000172508 MIM:613368; AllianceGenome:HGNC:29268
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATPGD1
    Summary
    CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
    Expression
    Biased expression in brain (RPKM 21.1), thyroid (RPKM 2.9) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See CARNS1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67415678..67425604)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67409793..67419719)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67183149..67193075)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAD9 checkpoint clamp component A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67165560-67166140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3630 Neighboring gene protein phosphatase 1 catalytic subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5091 Neighboring gene TBC1 domain family member 10C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67179513-67180014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67180015-67180514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67183887-67184722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67195675-67196442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67196443-67197210 Neighboring gene ribosomal protein S6 kinase B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67201247-67202008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67203533-67204294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67204572-67205104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67205105-67205637 Neighboring gene protein tyrosine phosphatase receptor type C associated protein Neighboring gene coronin 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer. Zhang L, et al. Mol Genet Genomic Med, 2021 Feb. PMID 33533160, Free PMC Article
    2. Intrinsic carnosine metabolism in the human kidney. Peters V, et al. Amino Acids, 2015 Dec. PMID 26206726, Free PMC Article
    3. 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
    4. 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
    5. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. Nakayama M, et al. Genome Res, 2002 Nov. PMID 12421765, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer.
      Title: Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer.
    2. CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy
      Title: Intrinsic carnosine metabolism in the human kidney.
    3. 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

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1394

    Gene Ontology Provided by GOA

    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 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 TAS
    Traceable Author Statement
    more info
    		  
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-histidine catabolic process TAS
    Traceable Author Statement
    more info
    		  
    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 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    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_001159694.1
    NP_001381506.1
    NP_001381507.1
    NP_001381508.1
    NP_065862.1

    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_001166222.2 → NP_001159694.1  carnosine synthase 1 isoform 1

      See identical proteins and their annotated locations for NP_001159694.1

      Status: VALIDATED

      Source sequence(s)
      AB037815, AK294035
      Consensus CDS
      CCDS53667.1
      UniProtKB/Swiss-Prot
      A5YM72
      Related
      ENSP00000510668.1, ENST00000687366.1
      Conserved Domains (1) summary
      pfam13535
      Location:647 → 822
      ATP-grasp_4; ATP-grasp domain

    2. NM_001394577.1 → NP_001381506.1  carnosine synthase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP003419
      Conserved Domains (1) summary
      PRK02186
      Location:506 → 906
      PRK02186; argininosuccinate lyase; Provisional

    3. NM_001394578.1 → NP_001381507.1  carnosine synthase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS44658.1
      UniProtKB/Swiss-Prot
      A5YM72, A8K1M3, B4DFC6, E9PK38, F5H427, Q8N467, Q9P2F3
      Conserved Domains (1) summary
      PRK02186
      Location:413 → 813
      PRK02186; argininosuccinate lyase; Provisional

    4. NM_001394579.1 → NP_001381508.1  carnosine synthase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS44658.1
      UniProtKB/Swiss-Prot
      A5YM72, A8K1M3, B4DFC6, E9PK38, F5H427, Q8N467, Q9P2F3
      Conserved Domains (1) summary
      PRK02186
      Location:413 → 813
      PRK02186; argininosuccinate lyase; Provisional

    5. NM_020811.2 → NP_065862.1  carnosine synthase 1 isoform 2

      See identical proteins and their annotated locations for NP_065862.1

      Status: VALIDATED

      Source sequence(s)
      AB037815, EF560746
      Consensus CDS
      CCDS44658.1
      UniProtKB/Swiss-Prot
      A5YM72, A8K1M3, B4DFC6, E9PK38, F5H427, Q8N467, Q9P2F3
      Related
      ENSP00000308268.3, ENST00000307823.7
      Conserved Domains (1) summary
      PRK02186
      Location:413 → 813
      PRK02186; argininosuccinate lyase; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67415678..67425604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67409793..67419719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5YM72.3 GenPept UniProtKB/Swiss-Prot:A5YM72

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