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Alternative titles; symbolsATP-GRASP DOMAIN-CONTAINING PROTEIN 1; ATPGD1KIAA1394HGNC Approved Gene Symbol: CARNS1Cytogenetic location: 11q13.2 Genomic coordi...

Alternative titles; symbols

  • KIAA1394

HGNC Approved Gene Symbol: CARNS1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,415,677-67,425,606 (from NCBI)

▼ Description
CARNS1 (EC, 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).

▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (2000) cloned CARNS1, which they designated KIAA1394. RT-PCR ELISA detected very high CARNS1 expression in whole adult and fetal brain and in all specific adult brain regions examined. High expression was also detected in heart and skeletal muscle, with much lower expression in other tissues examined.

By searching databases for orthologs of chicken Atpgd1, followed by PCR of mouse muscle/brain and human brain cDNA libraries, Drozak et al. (2010) cloned mouse and human CARNS1, which they called ATPGD1. The deduced proteins contain 957 and 950 amino acids, respectively, and both contain 2 ATP-grasp domains, with highest conservation in the C-terminal catalytic domain. Gel filtration analysis showed that mouse Atpgd1, like the chicken enzyme, was expressed as a homotetramer of about 430 kD in transfected HEK293 cells.

▼ Gene Function
Drozak et al. (2010) showed that, in the presence of L-histidine and ATP, purified chicken Atpgd1 converted beta-alanine to carnosine plus ADP and inorganic phosphate. Mouse and human ATPGD1 catalyzed the same reaction following expression in HEK293 cells. All 3 enzymes were not specific with respect to the amino acid serving as the acceptor, although L-histidine was preferred, and all 3 were also more efficient in synthesizing carnosine than homocarnosine and other dipeptides. Drozak et al. (2010) suggested that the lower catalytic efficiency of homocarnosine synthesis is compensated for by the high concentration of gamma-aminobutyric acid substrate in brain.

▼ Gene Structure
Drozak et al. (2010) determined that CARNS1 contains 9 coding exons. Exon 1 encodes the initiator ATG only.

▼ Mapping
By genomic sequence analysis, Drozak et al. (2010) mapped the CARNS1 gene to chromosome 11q13. They mapped the mouse Carns1 gene to chromosome 19.

Tags: 11q13.2