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CARNS1 carnosine synthase 1 [ Homo sapiens (human) ]

Gene ID: 57571, updated on 26-May-2016
Official Symbol
CARNS1provided by HGNC
Official Full Name
carnosine synthase 1provided by HGNC
Primary source
HGNC:HGNC:29268
See related
Ensembl:ENSG00000172508 MIM:613368; Vega:OTTHUMG00000167672
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]
Orthologs
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (67415678..67425607)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67183149..67193078)

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 uncharacterized LOC105369357 Neighboring gene protein tyrosine phosphatase, receptor type C associated protein

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1394

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
carnosine synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
carnosine synthase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
histidine catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
carnosine synthase 1
Names
ATP-grasp domain containing 1
ATP-grasp domain-containing protein 1
NP_001159694.1
NP_065862.1

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_001166222.1NP_001159694.1  carnosine synthase 1 isoform 1

    See identical proteins and their annotated locations for NP_001159694.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB037815, AK294035, EF560746
    Consensus CDS
    CCDS53667.1
    UniProtKB/Swiss-Prot
    A5YM72
    Related
    ENSP00000431670, OTTHUMP00000236403, ENST00000531040, OTTHUMT00000395499
    Conserved Domains (1) summary
    pfam13535
    Location:647822
    ATP-grasp_4; ATP-grasp domain
  2. NM_020811.1NP_065862.1  carnosine synthase 1 isoform 2

    See identical proteins and their annotated locations for NP_065862.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' region resulting in translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB037815, EF560746
    Consensus CDS
    CCDS44658.1
    UniProtKB/Swiss-Prot
    A5YM72
    Related
    ENSP00000308268, OTTHUMP00000236404, ENST00000307823, OTTHUMT00000395501
    Conserved Domains (1) summary
    pfam13535
    Location:524699
    ATP-grasp_4; ATP-grasp domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545191.1XP_011543493.1  

    Conserved Domains (1) summary
    pfam13900
    Location:558577
    GVQW; Putative binding domain
  2. XM_011545189.1XP_011543491.1  

    See identical proteins and their annotated locations for XP_011543491.1

    UniProtKB/Swiss-Prot
    A5YM72
    Related
    ENSP00000389009, ENST00000445895
    Conserved Domains (1) summary
    pfam13535
    Location:647822
    ATP-grasp_4; ATP-grasp domain
  3. XM_011545190.1XP_011543492.1  

    See identical proteins and their annotated locations for XP_011543492.1

    UniProtKB/Swiss-Prot
    A5YM72
    Conserved Domains (1) summary
    pfam13535
    Location:524699
    ATP-grasp_4; ATP-grasp domain

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    67066219..67076148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)