title: Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2).
abstract: Human cationic amino acid transporter 2 (HCAT2) was isolated from a human intestine cDNA library. The nucleotide sequence of the coding region predicts a 658-amino-acid protein with a calculated molecular weight of 71,669. As 91% of the residues are identical with those of the mouse cationic amino acid transporter 2 (MCAT2), HCAT2 seems to be a human counterpart of MCAT2. We found no isoform as was present in MCAT2. In Northern blot analysis, a single (9.0 kb) HCAT2 mRNA transcript was present in various human tissues. The highest level of expression was observed in skeletal muscle and the lowest level in the kidney. Hydropathy plots indicated that the translated protein is predicted to have 14 transmembrane domains with three potential N-glycosylation sites. Two patients with lysinuric protein intolerance (MIM No. 222700) were analyzed for HCAT2 cDNA but no mutation was detected. The HCAT2 gene was assigned to human chromosome 8p21.3-p22.
authors.affiliation: Department of Pediatrics, Kumamoto University School of Medicine, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Hoshide
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
authors.forename: S
authors.initials: S
authors.lastname: Karashima
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: S
authors.initials: S
authors.lastname: Komaki
authors.forename: T
authors.initials: T
authors.lastname: Kishino
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000595:Amino Acid Sequence; D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution; D014407:Tumor Cells, Cultured
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D018076:DNA, Complementary; D008565:Membrane Proteins; D012333:RNA, Messenger