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CARNS1 carnosine synthase 1 [ Homo sapiens (human) ]

Gene ID: 57571, updated on 5-Mar-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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Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67415678..67425604)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67409793..67419719)
105.20220307 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
  • 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 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 
involved_in histidine catabolic process TAS
Traceable Author Statement
more info
  
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_2023_10

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

Gene LinkOut

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