LOCUS       NM_133443               3992 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glutamic--pyruvic transaminase 2 (GPT2), transcript
            variant 1, mRNA.
ACCESSION   NM_133443
VERSION     NM_133443.4
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 3992)
  AUTHORS   Cui,M., Peng,J., Zhou,Y., Wang,X. and Cui,D.
  TITLE     Exosomal GPT2 derived from triple-negative breast cancer cells
            promotes metastasis by activating BTRC
  JOURNAL   Thorac Cancer 14 (21), 2018-2025 (2023)
   PUBMED   37287397
  REMARK    GeneRIF: Exosomal GPT2 derived from triple-negative breast cancer
            cells promotes metastasis by activating BTRC.
REFERENCE   2  (bases 1 to 3992)
  AUTHORS   Li,N., Xu,X., Liu,D., Gao,J., Gao,Y., Wu,X., Sheng,H., Li,Q. and
            Mi,J.
  TITLE     The delta subunit of the GABAA receptor is necessary for the
            GPT2-promoted breast cancer metastasis
  JOURNAL   Theranostics 13 (4), 1355-1369 (2023)
   PUBMED   36923530
  REMARK    GeneRIF: The delta subunit of the GABAA receptor is necessary for
            the GPT2-promoted breast cancer metastasis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3992)
  AUTHORS   Wu,J., Miao,C., Wang,Y., Wang,S., Wang,Z., Liu,Y., Wang,X. and
            Wang,Z.
  TITLE     SPTBN1 abrogates renal clear cell carcinoma progression via
            glycolysis reprogramming in a GPT2-dependent manner
  JOURNAL   J Transl Med 20 (1), 603 (2022)
   PUBMED   36527113
  REMARK    GeneRIF: SPTBN1 abrogates renal clear cell carcinoma progression
            via glycolysis reprogramming in a GPT2-dependent manner.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3992)
  AUTHORS   Baytas,O., Kauer,J.A. and Morrow,E.M.
  TITLE     Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in
            locus coeruleus
  JOURNAL   Neurobiol Dis 173, 105831 (2022)
   PUBMED   35908744
  REMARK    GeneRIF: Loss of mitochondrial enzyme GPT2 causes early
            neurodegeneration in locus coeruleus.
REFERENCE   5  (bases 1 to 3992)
  AUTHORS   Celis,K., Shuldiner,S., Haverfield,E.V., Cappell,J., Yang,R.,
            Gong,D.W. and Chung,W.K.
  TITLE     Loss of function mutation in glutamic pyruvate transaminase 2
            (GPT2) causes developmental encephalopathy
  JOURNAL   J Inherit Metab Dis 38 (5), 941-948 (2015)
   PUBMED   25758935
  REMARK    GeneRIF: Recessively inherited loss of function GPT2 mutations are
            a novel cause of intellectual disability.
REFERENCE   6  (bases 1 to 3992)
  AUTHORS   Salgado,M.C., Meton,I., Anemaet,I.G. and Baanante,I.V.
  TITLE     Activating transcription factor 4 mediates up-regulation of alanine
            aminotransferase 2 gene expression under metabolic stress
  JOURNAL   Biochim Biophys Acta 1839 (4), 288-296 (2014)
   PUBMED   24418603
  REMARK    GeneRIF: ATF4 silencing prevented the activating effect of
            histidinol and tunicamycin on ATF4 and ALT2 expression. Our
            findings point to ALT2 as an enzyme involved in the metabolic
            adaptation of the cell to stress
REFERENCE   7  (bases 1 to 3992)
  AUTHORS   Glinghammar,B., Rafter,I., Lindstrom,A.K., Hedberg,J.J.,
            Andersson,H.B., Lindblom,P., Berg,A.L. and Cotgreave,I.
  TITLE     Detection of the mitochondrial and catalytically active alanine
            aminotransferase in human tissues and plasma
  JOURNAL   Int J Mol Med 23 (5), 621-631 (2009)
   PUBMED   19360321
  REMARK    GeneRIF: A clinical method for selective measurement of ALT1 and 2
            in human plasma is described.
REFERENCE   8  (bases 1 to 3992)
  AUTHORS   Fraser,A., Ebrahim,S., Smith,G.D. and Lawlor,D.A.
  TITLE     A comparison of associations of alanine aminotransferase and
            gamma-glutamyltransferase with fasting glucose, fasting insulin,
            and glycated hemoglobin in women with and without diabetes
  JOURNAL   Hepatology 46 (1), 158-165 (2007)
   PUBMED   17596883
  REMARK    GeneRIF: Elevation of liver enzymes and hepatic insulin resistance
            as reflected by fasting insulin occur in the early stages of
            insulin resistance and highlight the central role of the liver in
            insulin resistance in the general population.
REFERENCE   9  (bases 1 to 3992)
  AUTHORS   Ding,Y., Zhao,L., Mei,H., Huang,Z.H. and Zhang,S.L.
  TITLE     Alterations of biliary biochemical constituents and cytokines in
            infantile hepatitis syndrome
  JOURNAL   World J Gastroenterol 12 (43), 7038-7041 (2006)
   PUBMED   17109502
  REMARK    GeneRIF: The biliary IL-6 and TNF-alpha levels were positively
            correlated with serum DBIL, TBA and gamma-GT levels in infantile
            hepatitis syndrome subjects.
REFERENCE   10 (bases 1 to 3992)
  AUTHORS   Yang,R.Z., Blaileanu,G., Hansen,B.C., Shuldiner,A.R. and Gong,D.W.
  TITLE     cDNA cloning, genomic structure, chromosomal mapping, and
            functional expression of a novel human alanine aminotransferase
  JOURNAL   Genomics 79 (3), 445-450 (2002)
   PUBMED   11863375
  REMARK    GeneRIF: expression of GPT2 especially in muscle and fat, suggests
            a unique and previously unrecognized role of this gene product in
            glucose, amino acid, and fatty acid metabolism and homeostasis.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007225.2, HY117879.1,
            AY029173.2, AC018845.7 and BE466380.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_133443.3.
            
            Summary: This gene encodes a mitochondrial alanine transaminase, a
            pyridoxal enzyme that catalyzes the reversible transamination
            between alanine and 2-oxoglutarate to generate pyruvate and
            glutamate. Alanine transaminases play roles in gluconeogenesis and
            amino acid metabolism in many tissues including skeletal muscle,
            kidney, and liver. Activating transcription factor 4 upregulates
            this gene under metabolic stress conditions in hepatocyte cell
            lines. A loss of function mutation in this gene has been associated
            with developmental encephalopathy. 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 (1).
            
            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 :: SRR1660809.105996.1,
                                           SRR1803611.20444.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 19360321; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000340124.9/
                                                  ENSP00000345282.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AC007225.2         1132-1149           c
            19-34               HY117879.1         1-16
            35-3148             AY029173.2         1-3114
            3149-3149           AC018845.7         70498-70498
            3150-3989           AY029173.2         3115-3954
            3990-3992           BE466380.1         9-11                c
FEATURES             Location/Qualifiers
     source          1..3992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q11.2"
     gene            1..3992
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /note="glutamic--pyruvic transaminase 2"
                     /db_xref="GeneID:84706"
                     /db_xref="HGNC:HGNC:18062"
                     /db_xref="MIM:138210"
     exon            1..106
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            107..371
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1700
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /EC_number="2.6.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutamic--alanine transaminase 2; glutamate pyruvate
                     transaminase 2; glutamic pyruvate transaminase (alanine
                     aminotransferase) 2; glutamic pyruvate transaminase 2"
                     /codon_start=1
                     /product="alanine aminotransferase 2 isoform 1"
                     /protein_id="NP_597700.1"
                     /db_xref="CCDS:CCDS10725.1"
                     /db_xref="GeneID:84706"
                     /db_xref="HGNC:HGNC:18062"
                     /db_xref="MIM:138210"
                     /translation="MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRR
                     ERILTLESMNPQVKAVEYAVRGPIVLKAGEIELELQRGIKKPFTEVIRANIGDAQAMG
                     QQPITFLRQVMALCTYPNLLDSPSFPEDAKKRARRILQACGGNSLGSYSASQGVNCIR
                     EDVAAYITRRDGGVPADPDNIYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPL
                     YSAVISELDAIQVNYYLDEENCWALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQV
                     QSRKCIEDVIHFAWEEKLFLLADEVYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELA
                     SFHSTSKGYMGECGYRGGYMEVINLHPEIKGQLVKLLSVRLCPPVSGQAAMDIVVNPP
                     VAGEESFEQFSREKESVLGNLAKKAKLTEDLFNQVPGIHCNPLQGAMYAFPRIFIPAK
                     AVEAAQAHQMAPDMFYCMKLLEETGICVVPGSGFGQREGTYHFRMTILPPVEKLKTVL
                     QKVKDFHINFLEKYA"
     exon            372..461
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            462..570
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            571..704
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            705..948
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1028
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1165
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1340
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1496
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1497..1609
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1610..3992
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2116..2121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /note="hexamer: AATAAA"
     polyA_site      2138
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /note="major polyA site"
     regulatory      3971..3976
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /note="hexamer: AATAAA"
     polyA_site      3992
                     /gene="GPT2"
                     /gene_synonym="ALT2; GPT 2; MRT49; NEDSPM"
                     /note="major polyA site"
ORIGIN      
        1 ggcgcgggcg ccgggcgcgg ggatgcggct gtgggcgccg gggccgggta gctgctccag
       61 gcgcgcgagc taaccgagtg cggcgagggc ctaccagggg cgacagggtt tctctccgca
      121 agcgcgcgat gcagcgggcg gcggcgctgg tccggcgggg ctgtggtccc cggaccccca
      181 gctcctgggg ccgcagccag agcagcgcgg ccgccgaggc ctcggcggtg ctcaaggtgc
      241 ggcccgagcg cagccggcgc gagcgcatcc tcacgctgga gtccatgaac ccgcaggtga
      301 aggcggtgga gtacgccgtg cggggaccca tcgtgctcaa ggccggcgag atcgagctcg
      361 agctgcagcg gggtatcaaa aagccattca cagaggtcat ccgagccaac atcggggacg
      421 cccaggctat ggggcagcag ccaatcacct tcctccggca ggtgatggca ctatgcacct
      481 acccaaacct gctggacagc cccagcttcc cagaagatgc taagaaacgt gcccggcgga
      541 tcctgcaggc ttgtggcggg aacagcctgg ggtcctacag tgctagccag ggtgtcaact
      601 gcatccgtga agatgtggct gcctacatca ccaggaggga tggcggtgtg cctgcggacc
      661 ccgacaacat ctacctgacc acgggagcta gtgacggcat ttctacgatc ctgaagatcc
      721 tcgtctccgg gggcggcaag tcacggacag gtgtgatgat ccccatccca caatatcccc
      781 tctattcagc tgtcatctct gagctcgacg ccatccaggt gaattactac ctggacgagg
      841 agaactgctg ggcgctgaat gtgaatgagc tccggcgggc ggtgcaggag gccaaagacc
      901 actgtgatcc taaggtgctc tgcataatca accctgggaa ccccacaggc caggtacaaa
      961 gcagaaagtg catagaagat gtgatccact ttgcctggga agagaagctc tttctcctgg
     1021 ctgatgaggt gtaccaggac aacgtgtact ctccagattg cagattccac tccttcaaga
     1081 aggtgctgta cgagatgggg cccgagtact ccagcaacgt ggagctcgcc tccttccact
     1141 ccacctccaa gggctacatg ggcgagtgtg gttacagagg aggctacatg gaggtgatca
     1201 acctgcaccc tgagatcaag ggccagctgg tgaagctgct gtcggtgcgc ctgtgccccc
     1261 cagtgtctgg gcaggccgcc atggacattg tcgtgaaccc cccggtggca ggagaggagt
     1321 cctttgagca attcagccga gagaaggagt cggtcctggg taatctggcc aaaaaagcaa
     1381 agctgacgga agacctgttt aaccaagtcc caggaattca ctgcaacccc ttgcaggggg
     1441 ccatgtacgc cttccctcgg atcttcattc ctgccaaagc tgtggaggct gctcaggccc
     1501 atcaaatggc tccagacatg ttctactgca tgaagctcct ggaggagact ggcatctgtg
     1561 tcgtgcccgg cagtggcttt gggcagaggg aaggcactta ccacttcagg atgactatcc
     1621 tccctccagt ggagaagctg aaaacggtgc tgcagaaggt gaaagacttc cacatcaact
     1681 tcctggagaa gtacgcgtga ggacgcctga gccccagcgg gagacctgtc cttggctctt
     1741 cctcccaatg cccgtcaggc tgaactcgcc tcccccgtga ctctgcctcg ggcctcgcag
     1801 aggccgctgg tcacttcgtc atcattttgc ccctggagac gtctttcttt gtgccttgat
     1861 gttgagagcg cctctctttt gagcaaacaa gcattctata tgcaaccaga gtagagggga
     1921 cctgctcagc aggtgtgacc agggttctct gaatctgtta ttgtttttgc ttctggaaag
     1981 ttcatttggg gtttacaaca actaggatgt gttgggtgag atgtttcaga tctggagaaa
     2041 tgagcaggtg tcgggaaatg tgtgacttaa ccgtggtgag ggctggaaat ccaaactcac
     2101 caccatgatc tgtgaaataa agcccttagc ggtgtgaagc atccggtcct ttgaacagaa
     2161 gggcctggaa ggcccctggg gctgagaaag ggtccgcccg gtggcctgga ggcaggcgcc
     2221 gggagcgcag tagcacgtgg actgggcagg atgttgcact agcttggggt agatgctggg
     2281 ggctgcggcc acggtcagag ggccccactg tgaggcgtgg gtgtgagcca ggctgcagga
     2341 ggaactgggc ctccgcttcc cagcaacgca gccaggcctg agaattctgt gcgcccggcg
     2401 ggctttggga atgaggggtt cccttgaaca tgcgtaggct ggaaccccgt ctgagaggtc
     2461 tccctgaatt tcagtgacac atagtgcagc ccggcagtgt cccacttccg tggagagagc
     2521 cgctggaatg gtgtggaccc atcccgcggg tgaccggtgc ctgttctccc ctgaccgagc
     2581 ctgtgagcac atcgccccct gctggcgaca gcggggaaat gagggctgaa aatatcctcc
     2641 ccacaagggc aatccccggg acctgccgag cagccaaggc cctgtccttt cttgaatggt
     2701 ggcgagctga atctggtcgg tttcctagct tttaggtggt aaaagtgcct ggcagcttgg
     2761 ctgccgtgga ggagtcagtc gtggttggag gttcattgcc gtgctttcat gcagagtgtt
     2821 ttgccttcat gttagcttcc ggctcccctc ccaggctgca gactctgacc tgtggcatca
     2881 ggcttctccc agtacaggag ggtgccatcc cccagcatgc ggcttctctg ccattagcag
     2941 ccctgggcgg gccgaccaca ctcgaggctg cggtgctacg ggcttagccc tcgcctccct
     3001 cactgggagc ttccccatcc tccctgcctt ccccagtggg aagttaggga agctcaggag
     3061 cctgggaccc cgcatgtccc aaaatgggat tggagaagct ggagagaaag cagaagaggc
     3121 cgaggagtga ggcagcagcc tctatgctgt gatttccaca ccgggtccgt gcagaggaaa
     3181 cagaaactcc caactgtcct tacccaccga catcacagcc cctatgaaga aagtagccac
     3241 aatctcaaat aacaaaaggg aatgttctaa aactttttct tccttaaaaa atggagaaaa
     3301 ttgcacttgt gcttgctgtg tggtatataa accaggatta gtcccagggt cgtgaggttt
     3361 ctggtgaaaa ggttaaatcg tagaagctag tatatttttt atatttttgt aacaattgct
     3421 tttttcatgg gggaggcggg gttagtattt atagtcctaa caagtccagt aattttttat
     3481 aaatcttcag attataaaca gcccctaaaa actttacaac gtttacacag ttttttaaaa
     3541 agagactgta tacacttgat ttgctttcaa aataaataag gtcagctagt ctaggaggtt
     3601 aacgtcgggt aggaatgctg atcatgatag gtttggtttt ctacagattc tgttccggtg
     3661 cctttcctat ccaggcacca cctgagaaag ttgtcatttg aggtcgcact tggaagttac
     3721 atctgtgaag tttctgtcat tcgtccagat ctgtgtgtgt agcatgtgct gaggaagcac
     3781 gtgctgggct gtgcctcaga cagtgcatca ccgggcaccc agaggcttgc ctggctattc
     3841 ctgttctggt gtgtgtggag tgttggggag gaacagatgc agatcaacct gtggctgttt
     3901 tcccgtctag gttctcacag gtatctcctg acagaggtac ttaacaatgg ctctgctgga
     3961 aatttctata aataaaatgt ccaaaatggt ga
//
