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CARNS1 carnosine synthase 1 [ Homo sapiens (human) ]

Gene ID: 57571, updated on 5-Jan-2022

Summary

Official Symbol
CARNS1provided by HGNC
Official Full Name
carnosine synthase 1provided by HGNC
Primary source
HGNC:HGNC:29268
See related
Ensembl:ENSG00000172508 MIM:613368
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

See CARNS1 in Genome Data Viewer
Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67415678..67425607)
105.20201022 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 protein phosphatase 1 catalytic subunit alpha Neighboring gene TBC1 domain family member 10C Neighboring gene ribosomal protein S6 kinase B2 Neighboring gene protein tyrosine phosphatase receptor type C associated protein Neighboring gene coronin 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
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

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
XP_011543493.1
XP_016873543.1
XP_016873544.1

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_001166222.2NP_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:647822
    ATP-grasp_4; ATP-grasp domain
  2. NM_001394577.1NP_001381506.1  carnosine synthase 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    PRK02186
    Location:506906
    PRK02186; argininosuccinate lyase; Provisional
  3. NM_001394578.1NP_001381507.1  carnosine synthase 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    PRK02186
    Location:413813
    PRK02186; argininosuccinate lyase; Provisional
  4. NM_001394579.1NP_001381508.1  carnosine synthase 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    PRK02186
    Location:413813
    PRK02186; argininosuccinate lyase; Provisional
  5. NM_020811.2NP_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
    Related
    ENSP00000308268.3, ENST00000307823.7
    Conserved Domains (1) summary
    PRK02186
    Location:413813
    PRK02186; argininosuccinate lyase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67415678..67425607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018054.1XP_016873543.1  carnosine synthase 1 isoform X1

    UniProtKB/Swiss-Prot
    A5YM72
    Related
    ENST00000531388.1
    Conserved Domains (1) summary
    pfam13535
    Location:663838
    ATP-grasp_4; ATP-grasp domain
  2. XM_011545191.2XP_011543493.1  carnosine synthase 1 isoform X3

  3. XM_017018055.2XP_016873544.1  carnosine synthase 1 isoform X2

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