LOCUS       NM_031900               2219 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_031900
VERSION     NM_031900.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2219)
  AUTHORS   Kumon,H., Miyake,Y., Yoshino,Y., Iga,J.I., Tanaka,K., Senba,H.,
            Kimura,E., Higaki,T., Matsuura,B., Kawamoto,R. and Ueno,S.I.
  TITLE     Functional AGXT2 SNP rs180749 variant and depressive symptoms:
            Baseline data from the Aidai Cohort Study in Japan
  JOURNAL   J Neural Transm (Vienna) 131 (3), 267-274 (2024)
   PUBMED   38261033
  REMARK    GeneRIF: Functional AGXT2 SNP rs180749 variant and depressive
            symptoms: Baseline data from the Aidai Cohort Study in Japan.
REFERENCE   2  (bases 1 to 2219)
  AUTHORS   Granot-Hershkovitz,E., Spitzer,B., Yang,Y., Tarraf,W., Yu,B.,
            Boerwinkle,E., Fornage,M., Mosley,T.H., DeCarli,C., Kristal,B.S.,
            Gonzalez,H.M. and Sofer,T.
  TITLE     Genetic loci of beta-aminoisobutyric acid are associated with
            aging-related mild cognitive impairment
  JOURNAL   Transl Psychiatry 13 (1), 140 (2023)
   PUBMED   37120436
  REMARK    GeneRIF: Genetic loci of beta-aminoisobutyric acid are associated
            with aging-related mild cognitive impairment.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2219)
  AUTHORS   Kumon,H., Miyake,Y., Yoshino,Y., Iga,J.I., Tanaka,K., Senba,H.,
            Kimura,E., Higaki,T., Matsuura,B., Kawamoto,R. and Ueno,S.I.
  TITLE     Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes
            Mellitus: Baseline Data From the Aidai Cohort Study in Japan
  JOURNAL   Can J Diabetes 46 (8), 829-834 (2022)
   PUBMED   35961823
  REMARK    GeneRIF: Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for
            Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in
            Japan.
REFERENCE   4  (bases 1 to 2219)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 2219)
  AUTHORS   Rodionov,R.N., Jarzebska,N., Weiss,N. and Lentz,S.R.
  TITLE     AGXT2: a promiscuous aminotransferase
  JOURNAL   Trends Pharmacol Sci 35 (11), 575-582 (2014)
   PUBMED   25294000
  REMARK    Review article
REFERENCE   6  (bases 1 to 2219)
  AUTHORS   Caplin,B., Wang,Z., Slaviero,A., Tomlinson,J., Dowsett,L.,
            Delahaye,M., Salama,A., Wheeler,D.C. and Leiper,J.
  CONSRTM   International Consortium for Blood Pressure Genome-Wide Association
            Studies
  TITLE     Alanine-glyoxylate aminotransferase-2 metabolizes endogenous
            methylarginines, regulates NO, and controls blood pressure
  JOURNAL   Arterioscler Thromb Vasc Biol 32 (12), 2892-2900 (2012)
   PUBMED   23023372
  REMARK    GeneRIF: Alanine-glyoxylate aminotransferase-2 metabolizes
            endogenous methylarginines, regulates NO, and controls blood
            pressure.
REFERENCE   7  (bases 1 to 2219)
  AUTHORS   Rodionov,R.N., Murry,D.J., Vaulman,S.F., Stevens,J.W. and
            Lentz,S.R.
  TITLE     Human alanine-glyoxylate aminotransferase 2 lowers asymmetric
            dimethylarginine and protects from inhibition of nitric oxide
            production
  JOURNAL   J Biol Chem 285 (8), 5385-5391 (2010)
   PUBMED   20018850
  REMARK    GeneRIF: mitochondrially localized human AGXT2 is able to
            effectively metabolize ADMA in vivo resulting in decreased ADMA
            levels and improved endothelial NO production.
REFERENCE   8  (bases 1 to 2219)
  AUTHORS   Danpure,C.J.
  TITLE     Primary hyperoxaluria: from gene defects to designer drugs?
  JOURNAL   Nephrol Dial Transplant 20 (8), 1525-1529 (2005)
   PUBMED   15956068
REFERENCE   9  (bases 1 to 2219)
  AUTHORS   Baker,P.R., Cramer,S.D., Kennedy,M., Assimos,D.G. and Holmes,R.P.
  TITLE     Glycolate and glyoxylate metabolism in HepG2 cells
  JOURNAL   Am J Physiol Cell Physiol 287 (5), C1359-C1365 (2004)
   PUBMED   15240345
REFERENCE   10 (bases 1 to 2219)
  AUTHORS   Lee,I.S., Muragaki,Y., Ideguchi,T., Hase,T., Tsuji,M., Ooshima,A.,
            Okuno,E. and Kido,R.
  TITLE     Molecular cloning and sequencing of a cDNA encoding
            alanine-glyoxylate aminotransferase 2 from rat kidney
  JOURNAL   J Biochem 117 (4), 856-862 (1995)
   PUBMED   7592550
  REMARK    GeneRIF: Discusses the cloning of the rat gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA633665.1 and AJ292204.1.
            
            On Nov 23, 2018 this sequence version replaced NM_031900.3.
            
            Summary: The protein encoded by this gene is a class III
            pyridoxal-phosphate-dependent mitochondrial aminotransferase. It
            catalyzes the conversion of glyoxylate to glycine using L-alanine
            as the amino donor. It is an important regulator of methylarginines
            and is involved in the control of blood pressure in kidney.
            Polymorphisms in this gene affect methylarginine and
            beta-aminoisobutyrate metabolism, and are associated with carotid
            atherosclerosis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB193309.1, AJ292204.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1970526,
                                           SAMEA2144835 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000231420.11/
                                                  ENSP00000231420.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                DA633665.1         241-295
            56-2219             AJ292204.1         1-2164
FEATURES             Location/Qualifiers
     source          1..2219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..2219
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /note="alanine--glyoxylate aminotransferase 2"
                     /db_xref="GeneID:64902"
                     /db_xref="HGNC:HGNC:14412"
                     /db_xref="MIM:612471"
     exon            1..145
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1602
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /EC_number="2.6.1.44"
                     /EC_number="2.6.1.40"
                     /EC_number="2.6.1.18"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; beta-alanine-pyruvate aminotransferase;
                     beta-ALAAT II; (R)-3-amino-2-methylpropionate--pyruvate
                     transaminase; D-3-aminoisobutyrate-pyruvate
                     aminotransferase; D-beta-aminoisobutyrate-pyruvate
                     aminotransferase"
                     /codon_start=1
                     /product="alanine--glyoxylate aminotransferase 2,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_114106.1"
                     /db_xref="CCDS:CCDS3908.1"
                     /db_xref="GeneID:64902"
                     /db_xref="HGNC:HGNC:14412"
                     /db_xref="MIM:612471"
                     /translation="MTLIWRHLLRPLCLVTSAPRILEMHPFLSLGTSRTSVTKLSLHT
                     KPRMPPCDFMPERYQSLGYNRVLEIHKEHLSPVVTAYFQKPLLLHQGHMEWLFDAEGS
                     RYLDFFSGIVTVSVGHCHPKVNAVAQKQLGRLWHTSTVFFHPPMHEYAEKLAALLPEP
                     LKVIFLVNSGSEANELAMLMARAHSNNIDIISFRGAYHGCSPYTLGLTNVGTYKMELP
                     GGTGCQPTMCPDVFRGPWGGSHCRDSPVQTIRKCSCAPDCCQAKDQYIEQFKDTLSTS
                     VAKSIAGFFAEPIQGVNGVVQYPKGFLKEAFELVRARGGVCIADEVQTGFGRLGSHFW
                     GFQTHDVLPDIVTMAKGIGNGFPMAAVITTPEIAKSLAKCLQHFNTFGGNPMACAIGS
                     AVLEVIKEENLQENSQEVGTYMLLKFAKLRDEFEIVGDVRGKGLMIGIEMVQDKISCR
                     PLPREEVNQIHEDCKHMGLLVGRGSIFSQTFRIAPSMCITKPEVDFAVEVFRSALTQH
                     MERRAK"
     exon            146..234
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            235..419
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            420..543
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            544..638
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            639..732
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            733..826
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            827..927
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1020
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1153
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1245
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1395
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1494
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..2219
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
     regulatory      2200..2205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /note="hexamer: AATAAA"
     polyA_site      2219
                     /gene="AGXT2"
                     /gene_synonym="AGT2; BAIBA; DAIBAT"
                     /note="major polyA site"
ORIGIN      
        1 agttagagcc cggcctccaa tctgcttcca tgggggttgg ctttctgagt gggagaaatg
       61 actctaatct ggagacattt gctgagaccc ttgtgcctgg tcacttccgc tcccaggatc
      121 cttgagatgc atcctttcct gagcctaggt acttcccgga catcagtaac caagctcagt
      181 cttcatacaa agcccagaat gcctccatgt gacttcatgc ctgaaagata ccagtccctt
      241 ggctacaacc gtgtcctgga aatccacaag gaacatcttt ctcctgtggt gacggcatat
      301 ttccagaaac ccctgctgct ccaccagggg cacatggagt ggctctttga tgctgaagga
      361 agcagatacc tggatttctt ttccgggatt gttactgtca gtgttggcca ttgccaccca
      421 aaggtgaatg cagtggcaca aaagcagctc ggccgcctgt ggcatacaag caccgtcttc
      481 ttccaccctc caatgcatga atatgcagag aagcttgccg cacttcttcc tgagcctctt
      541 aaggtcattt tcttggtgaa cagtggctca gaagccaatg agctggccat gctgatggcc
      601 agggcgcact caaacaacat agacatcatt tctttcagag gagcctacca tggatgcagt
      661 ccttacacac ttggcttgac aaacgtaggg acctacaaga tggaactccc tggtgggaca
      721 ggttgccaac caacaatgtg tccagatgtt tttcgtggcc cttggggagg aagccactgt
      781 cgagattctc cagtgcaaac aatcaggaag tgcagctgtg caccagactg ctgccaagct
      841 aaagatcagt atattgagca attcaaagat acgctgagca catctgtggc caagtcaatt
      901 gctggatttt tcgcagaacc tattcaaggt gtgaatggag ttgtccagta cccaaagggg
      961 tttctaaagg aagcctttga gctggtgcga gcaaggggag gcgtgtgcat tgcagatgaa
     1021 gtgcagacag gatttggaag gttgggctct cacttctggg gcttccaaac ccacgatgtc
     1081 ctgcctgaca ttgtcaccat ggctaaaggg attgggaatg gctttcccat ggcagcagtc
     1141 ataaccactc cagagattgc caaatctttg gcgaaatgcc tgcagcactt caacaccttt
     1201 ggagggaacc ccatggcctg tgccattgga tctgctgtgc ttgaggtgat taaagaagaa
     1261 aatctacagg aaaacagtca agaagttggg acctacatgt tactaaagtt tgctaagctg
     1321 cgggatgaat ttgaaattgt tggagacgtc cgaggcaaag gtctcatgat aggcatagaa
     1381 atggtgcagg ataagataag ctgtcggcct cttccccgtg aagaagtaaa tcagatccat
     1441 gaggactgca agcacatggg actcctcgtt ggcagaggca gcattttttc tcagacattt
     1501 cgcattgcgc cctcaatgtg catcactaaa ccagaagttg attttgcagt agaagtattt
     1561 cgttctgcct taacccaaca catggaaaga agagctaagt aacattgtca gaaataaata
     1621 aaaccacaag tctcaagaat ttgccacgta tgttcaaggg tgaatttgaa gaatttcaga
     1681 accactggta tccagagaaa gcctgcagct ctccacagga gctgtaaaag tcatggttga
     1741 ctgcctacca accatatttg ttagcagagc ccctcttatc ttgagaactc cattcttcag
     1801 ggaaaggatc tccctagctc agagaataaa tcctaattag tttatgttag gtatggtaat
     1861 ttgattcccc tttgcagtga ttggtttatg catgaatatg tgatgtattt ttgtccagtg
     1921 aatcttgaag aaaaatcttt tggtggaggt gccttcaggg aaagttttct tcaccctcac
     1981 tcttcagttc aagaagagat gtcttcttgt tgcgctgaga acaccatatg ttcatgacga
     2041 gattcctggc accatgtcag ccggcttgta gtcatgagga caaccctttt tggtgaggtt
     2101 ggaagatgga tggaagccaa gtgcttagtg atgtcaaaga agcactcact taagcattcc
     2161 tggagccacc ctacctcagg gcctcttgat atttgaggta ataaattcat tgttctgta
//
