LOCUS       NM_000030               2900 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens alanine--glyoxylate aminotransferase (AGXT), mRNA.
ACCESSION   NM_000030 NM_016236
VERSION     NM_000030.3
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 2900)
  AUTHORS   Naguib,S., Mansour,L.A., Soliman,N.A., El-Hanafy,H.M., Fahmy,Y.A.,
            Elmonem,M.A. and Halim,R.M.A.
  TITLE     Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian
            Patients with Primary Hyperoxaluria Type I
  JOURNAL   Genet Test Mol Biomarkers 28 (4), 151-158 (2024)
   PUBMED   38657121
  REMARK    GeneRIF: Expanding the Genetic Spectrum of AGXT Gene Variants in
            Egyptian Patients with Primary Hyperoxaluria Type I.
REFERENCE   2  (bases 1 to 2900)
  AUTHORS   Vankova,P., Pacheco-Garcia,J.L., Loginov,D.S., Gomez-Mulas,A.,
            Kadek,A., Martin-Garcia,J.M., Salido,E., Man,P. and Pey,A.L.
  TITLE     Insights into the pathogenesis of primary hyperoxaluria type I from
            the structural dynamics of alanine:glyoxylate aminotransferase
            variants
  JOURNAL   FEBS Lett 598 (4), 485-499 (2024)
   PUBMED   38243391
  REMARK    GeneRIF: Insights into the pathogenesis of primary hyperoxaluria
            type I from the structural dynamics of alanine:glyoxylate
            aminotransferase variants.
REFERENCE   3  (bases 1 to 2900)
  AUTHORS   Wu,J., Song,J., He,Y., Zhong,C., Yang,Q., Li,Q. and Wang,M.
  TITLE     Case series and literature review of primary hyperoxaluria type 1
            in Chinese patients
  JOURNAL   Urolithiasis 51 (1), 123 (2023)
   PUBMED   37874369
  REMARK    GeneRIF: Case series and literature review of primary hyperoxaluria
            type 1 in Chinese patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2900)
  AUTHORS   Ahmed,H.A., Fadel,F.I., Abdel Mawla,M.A., Salah,D.M.,
            Fathallah,M.G. and Amr,K.
  TITLE     Next-generation sequencing in identification of pathogenic variants
            in primary hyperoxaluria among 21 Egyptian families: Identification
            of two novel AGXT gene mutations
  JOURNAL   Mol Genet Genomic Med 10 (8), e1992 (2022)
   PUBMED   35661454
  REMARK    GeneRIF: Next-generation sequencing in identification of pathogenic
            variants in primary hyperoxaluria among 21 Egyptian families:
            Identification of two novel AGXT gene mutations.
REFERENCE   5  (bases 1 to 2900)
  AUTHORS   Danpure,C.J., Fryer,P., Jennings,P.R., Allsop,J., Griffiths,S. and
            Cunningham,A.
  TITLE     Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and
            mitochondrial targeting. A survey of its subcellular distribution
            in the livers of various representatives of the classes Mammalia,
            Aves and Amphibia
  JOURNAL   Eur J Cell Biol 64 (2), 295-313 (1994)
   PUBMED   7813517
REFERENCE   6  (bases 1 to 2900)
  AUTHORS   Milliner,D.S., Harris,P.C., Sas,D.J., Cogal,A.G. and Lieske,J.C.
  TITLE     Primary Hyperoxaluria Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301460
REFERENCE   7  (bases 1 to 2900)
  AUTHORS   Minatogawa,Y., Tone,S., Allsop,J., Purdue,P.E., Takada,Y.,
            Danpur,C.J. and Kido,R.
  TITLE     A serine-to-phenylalanine substitution leads to loss of
            alanine:glyoxylate aminotransferase catalytic activity and
            immunoreactivity in a patient with primary hyperoxaluria type 1
  JOURNAL   Hum Mol Genet 1 (8), 643-644 (1992)
   PUBMED   1301173
REFERENCE   8  (bases 1 to 2900)
  AUTHORS   Purdue,P.E., Lumb,M.J., Allsop,J., Minatogawa,Y. and Danpure,C.J.
  TITLE     A glycine-to-glutamate substitution abolishes alanine:glyoxylate
            aminotransferase catalytic activity in a subset of patients with
            primary hyperoxaluria type 1
  JOURNAL   Genomics 13 (1), 215-218 (1992)
   PUBMED   1349575
REFERENCE   9  (bases 1 to 2900)
  AUTHORS   Purdue,P.E., Allsop,J., Isaya,G., Rosenberg,L.E. and Danpure,C.J.
  TITLE     Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase
            to mitochondria in primary hyperoxaluria patients depends upon
            activation of a cryptic mitochondrial targeting sequence by a point
            mutation
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10900-10904 (1991)
   PUBMED   1961759
REFERENCE   10 (bases 1 to 2900)
  AUTHORS   Purdue,P.E., Takada,Y. and Danpure,C.J.
  TITLE     Identification of mutations associated with
            peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate
            aminotransferase in primary hyperoxaluria type 1
  JOURNAL   J Cell Biol 111 (6 Pt 1), 2341-2351 (1990)
   PUBMED   1703535
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X53414.1, AA857309.1,
            CB156891.1 and AC104809.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000030.2.
            
            Summary: This gene is expressed only in the liver and the encoded
            protein is localized mostly in the peroxisomes, where it is
            involved in glyoxylate detoxification. Mutations in this gene, some
            of which alter subcellular targetting, have been associated with
            type I primary hyperoxaluria. [provided by RefSeq, Jul 2008].
            
            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 :: AK292754.1, X53414.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307503.4/ ENSP00000302620.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1509              X53414.1           81-1589
            1510-1515           AA857309.1         3-8                 c
            1516-1519           CB156891.1         14-17               c
            1520-2900           AC104809.5         124930-126310       c
FEATURES             Location/Qualifiers
     source          1..2900
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..2900
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /note="alanine--glyoxylate aminotransferase"
                     /db_xref="GeneID:189"
                     /db_xref="HGNC:HGNC:341"
                     /db_xref="MIM:604285"
     exon            1..207
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1221
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /EC_number="2.6.1.44"
                     /EC_number="2.6.1.51"
                     /note="L-alanine: glyoxylate aminotransferase 1; hepatic
                     peroxisomal alanine:glyoxylate aminotransferase;
                     serine--pyruvate aminotransferase; alanine--glyoxylate and
                     serine--pyruvate aminotransferase"
                     /codon_start=1
                     /product="alanine--glyoxylate aminotransferase"
                     /protein_id="NP_000021.1"
                     /db_xref="CCDS:CCDS2543.1"
                     /db_xref="GeneID:189"
                     /db_xref="HGNC:HGNC:341"
                     /db_xref="MIM:604285"
                     /translation="MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQ
                     MIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLV
                     GANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
                     GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTS
                     LISFSDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESL
                     ALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRD
                     IVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL
                     "
     exon            208..400
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            401..465
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            466..566
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            567..637
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            638..722
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            723..818
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            819..888
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            889..984
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1113
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..2900
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1493..1498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /note="hexamer: AATAAA"
     polyA_site      1519
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /note="major polyA site"
     polyA_site      1547
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
     regulatory      2880..2885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
                     /note="hexamer: AATATA"
     polyA_site      2900
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT;
                     SPT; TLH6"
ORIGIN      
        1 agtgcagccc caggttcccg agcggcaggt tgggtgcgga ccatggcctc tcacaagctg
       61 ctggtgaccc cccccaaggc cctgctcaag cccctctcca tccccaacca gctcctgctg
      121 gggcctggtc cttccaacct gcctcctcgc atcatggcag ccggggggct gcagatgatc
      181 gggtccatga gcaaggatat gtaccagatc atggacgaga tcaaggaagg catccagtac
      241 gtgttccaga ccaggaaccc actcacactg gtcatctctg gctcgggaca ctgtgccctg
      301 gaggccgccc tggtcaatgt gctggagcct ggggactcct tcctggttgg ggccaatggc
      361 atttgggggc agcgagccgt ggacatcggg gagcgcatag gagcccgagt gcacccgatg
      421 accaaggacc ctggaggcca ctacacactg caggaggtgg aggagggcct ggcccagcac
      481 aagccagtgc tgctgttctt aacccacggg gagtcgtcca ccggcgtgct gcagcccctt
      541 gatggcttcg gggaactctg ccacaggtac aagtgcctgc tcctggtgga ttcggtggca
      601 tccctgggcg ggacccccct ttacatggac cggcaaggca tcgacatcct gtactcgggc
      661 tcccagaagg ccctgaacgc ccctccaggg acctcgctca tctccttcag tgacaaggcc
      721 aaaaagaaga tgtactcccg caagacgaag cccttctcct tctacctgga catcaagtgg
      781 ctggccaact tctggggctg tgacgaccag cccaggatgt accatcacac aatccccgtc
      841 atcagcctgt acagcctgag agagagcctg gccctcattg cggaacaggg cctggagaac
      901 agctggcgcc agcaccgcga ggccgcggcg tatctgcatg ggcgcctgca ggcactgggg
      961 ctgcagctct tcgtgaagga cccggcgctc cggcttccca cagtcaccac tgtggctgta
     1021 cccgctggct atgactggag agacatcgtc agctacgtca tagaccactt cgacattgag
     1081 atcatgggtg gccttgggcc ctccacgggg aaggtgctgc ggatcggcct gctgggctgc
     1141 aatgccaccc gcgagaatgt ggaccgcgtg acggaggccc tgagggcggc cctgcagcac
     1201 tgccccaaga agaagctgtg acctgcccac tggcacacag ctggcactgg cacacacctg
     1261 tcccatgccc accctgaggg atcaggagca aacagaccct gcaaggtcct ccaggcctgg
     1321 ggacaggaaa gccactgacc cagcccggga ggcagaacca ggcagcctcc ctggccccag
     1381 gcagcccttt tccctccagt ggcacctcct ggaaacagtc cacttgggcg caaaacccag
     1441 tgccttccaa atgagctgca gtccccaggc catgagcctc ccgggaatgt ttaataaagg
     1501 gcctggccaa ctctcctcac tgtgtggggt ggtctgtgaa agagtgagag gagagcatct
     1561 ctgctccctg agctgcctga ttgtggactt tagggggaca ctcctcatcc tggagcccac
     1621 agggtagatc ctcccctgga ggaggtgctg tcaccacact ctagccccag atgtcacacc
     1681 cccaaacgtc ctcacgcacc acatccaggt gaacccacac ggcgcacagg gctggttgga
     1741 gacccctgtc atggacaagg gtacctgcgt gctggagagc gcacagccag gacctgagcc
     1801 catgacacgt ggaagcctcc aatggaaggt cccctatgct cccatccagc cagtgcccac
     1861 ccctcaactg cctgacttct gtgaccatag atcagcctgg catatttgaa tttatttatt
     1921 tattttgaaa cggagtttca ctcttgttgc ccaggctgga gtgcagtggc acgatctcag
     1981 ctcactacaa cctccgcctc ccgggttcaa gcgattctcc tgcctcaggc tccggattag
     2041 ctgggactac aggtgtgcac caccatgccc ggctaatttt tgtattttta gtacagatgg
     2101 ggtttcacta tattggccag gctggtctcg aactcctgac ctcaagtgat ccacctgcct
     2161 cggcctccca aagtgctggg attacaagcg tgagccactg tgcccagcca tagttgaatt
     2221 tcatggtcag tggaacacac agcaggtcct ccactgtgcc agcttctttc acttactgtt
     2281 tttgacactc acatgtaccg tcgtgggcgc cggtgtgtct ttgttgctga gtgccgtccc
     2341 gtcatatgga cgtgcgtcgt gggcgccggt gtgtcttgtt gctgagtgcc gtcccgtcat
     2401 atggacacct catgatttgt tggttcatca ccatagttga gcatctgggt tatttctatt
     2461 ttggggctgt tatgaatacg gaggtagtga aattcttact caagccttcg tgtggccata
     2521 tattttcatt tttcttggat aaataactag gagtggaatt gcagggtcat acaataggct
     2581 taaccttata cgagactgcc acgaaattct ccgaagtggc tcttccatgt ttcattcccg
     2641 cagctacagc gtccagggtg ctccacgtcc tcacccacac tccatgttgt ctttttttgc
     2701 tagggggtgt aaaatcctgt ctgatttggt tttagtttgc atttccctga tgcctattga
     2761 tgttgagcaa cttctcatga gctatcggcc gtttgtagat cttctgaaaa gtgtcagttc
     2821 aaatattttg ttcatatttg gatttttatc ttcttattgt caatgtgtga tcattttaaa
     2881 atatattcta gatactatca
//
