LOCUS       NM_006623               1866 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.
ACCESSION   NM_006623
VERSION     NM_006623.4
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 1866)
  AUTHORS   Riva,D., Orlando,M., Rabattoni,V. and Pollegioni,L.
  TITLE     On the quaternary structure of human D-3-phosphoglycerate
            dehydrogenase
  JOURNAL   Protein Sci 33 (8), e5089 (2024)
   PUBMED   39012001
  REMARK    GeneRIF: On the quaternary structure of human D-3-phosphoglycerate
            dehydrogenase.
REFERENCE   2  (bases 1 to 1866)
  AUTHORS   Shen,J., Ma,Z., Yang,J., Qu,T., Xia,Y., Xu,Y., Zhou,M. and Liu,W.
  TITLE     CircPHGDH downregulation decreases papillary thyroid cancer
            progression through miR-122-5p/PKM2 axis
  JOURNAL   BMC Cancer 24 (1), 511 (2024)
   PUBMED   38654205
  REMARK    GeneRIF: CircPHGDH downregulation decreases papillary thyroid
            cancer progression through miR-122-5p/PKM2 axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1866)
  AUTHORS   Yamamoto,T., Hayashida,T., Masugi,Y., Oshikawa,K., Hayakawa,N.,
            Itoh,M., Nishime,C., Suzuki,M., Nagayama,A., Kawai,Y., Hishiki,T.,
            Matsuura,T., Naito,Y., Kubo,A., Yamamoto,A., Yoshioka,Y.,
            Kurahori,T., Nagasaka,M., Takizawa,M., Takano,N., Kawakami,K.,
            Sakamoto,M., Wakui,M., Yamamoto,T., Kitagawa,Y., Kabe,Y.,
            Horisawa,K., Suzuki,A., Matsumoto,M. and Suematsu,M.
  TITLE     PRMT1 Sustains De Novo Fatty Acid Synthesis by Methylating PHGDH to
            Drive Chemoresistance in Triple-Negative Breast Cancer
  JOURNAL   Cancer Res 84 (7), 1065-1083 (2024)
   PUBMED   38383964
  REMARK    GeneRIF: PRMT1 Sustains De Novo Fatty Acid Synthesis by Methylating
            PHGDH to Drive Chemoresistance in Triple-Negative Breast Cancer.
REFERENCE   4  (bases 1 to 1866)
  AUTHORS   Mantyselka,S., Kolari,K., Baumert,P., Yla-Outinen,L., Kuikka,L.,
            Lahtonen,S., Permi,P., Wackerhage,H., Kalenius,E., Kivela,R. and
            Hulmi,J.J.
  TITLE     Serine synthesis pathway enzyme PHGDH is critical for muscle cell
            biomass, anabolic metabolism, and mTORC1 signaling
  JOURNAL   Am J Physiol Endocrinol Metab 326 (1), E73-E91 (2024)
   PUBMED   37991454
  REMARK    GeneRIF: Serine synthesis pathway enzyme PHGDH is critical for
            muscle cell biomass, anabolic metabolism, and mTORC1 signaling.
REFERENCE   5  (bases 1 to 1866)
  AUTHORS   Murtas,G., Zerbini,E., Rabattoni,V., Motta,Z., Caldinelli,L.,
            Orlando,M., Marchesani,F., Campanini,B., Sacchi,S. and
            Pollegioni,L.
  TITLE     Biochemical and cellular studies of three human 3-phosphoglycerate
            dehydrogenase variants responsible for pathological reduced
            L-serine levels
  JOURNAL   Biofactors 50 (1), 181-200 (2024)
   PUBMED   37650587
  REMARK    GeneRIF: Biochemical and cellular studies of three human
            3-phosphoglycerate dehydrogenase variants responsible for
            pathological reduced L-serine levels.
REFERENCE   6  (bases 1 to 1866)
  AUTHORS   Pineda,M., Vilaseca,M.A., Artuch,R., Santos,S., Garcia
            Gonzalez,M.M., Aracil,A., Van Schaftingen,E. and Jaeken,J.
  TITLE     3-phosphoglycerate dehydrogenase deficiency in a patient with West
            syndrome
  JOURNAL   Dev Med Child Neurol 42 (9), 629-633 (2000)
   PUBMED   11034457
REFERENCE   7  (bases 1 to 1866)
  AUTHORS   Cho,H.M., Jun,D.Y., Bae,M.A., Ahn,J.D. and Kim,Y.H.
  TITLE     Nucleotide sequence and differential expression of the human
            3-phosphoglycerate dehydrogenase gene
  JOURNAL   Gene 245 (1), 193-201 (2000)
   PUBMED   10713460
REFERENCE   8  (bases 1 to 1866)
  AUTHORS   Baek,J.Y., Jun,D.Y., Taub,D. and Kim,Y.H.
  TITLE     Assignment of human 3-phosphoglycerate dehydrogenase (PHGDH) to
            human chromosome band 1p12 by fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 89 (1-2), 6-7 (2000)
   PUBMED   10894924
REFERENCE   9  (bases 1 to 1866)
  AUTHORS   Jaeken,J., Detheux,M., Van Maldergem,L., Foulon,M., Carchon,H. and
            Van Schaftingen,E.
  TITLE     3-Phosphoglycerate dehydrogenase deficiency: an inborn error of
            serine biosynthesis
  JOURNAL   Arch Dis Child 74 (6), 542-545 (1996)
   PUBMED   8758134
REFERENCE   10 (bases 1 to 1866)
  AUTHORS   van der Crabben,S.N. and de Koning,T.J.
  TITLE     Serine Deficiency Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37347880
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC011262.1 and AL589734.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_006623.3.
            
            Summary: This gene encodes the enzyme which is involved in the
            early steps of L-serine synthesis in animal cells. L-serine is
            required for D-serine and other amino acid synthesis. The enzyme
            requires NAD/NADH as a cofactor and forms homotetramers for
            activity. Mutations in this gene have been found in a family with
            congenital microcephaly, psychomotor retardation and other
            symptoms. Multiple alternatively spliced transcript variants have
            been found, however the full-length nature of most are not known.
            [provided by RefSeq, Aug 2011].
            
            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 :: SRR3476690.1001368.1, BC011262.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641023.2/ ENSP00000493175.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1414              BC011262.1         48-1461
            1415-1415           AL589734.5         18234-18234
            1416-1866           BC011262.1         1463-1913
FEATURES             Location/Qualifiers
     source          1..1866
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1866
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /note="phosphoglycerate dehydrogenase"
                     /db_xref="GeneID:26227"
                     /db_xref="HGNC:HGNC:8923"
                     /db_xref="MIM:606879"
     exon            1..227
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1691
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /EC_number="1.1.1.37"
                     /EC_number="1.1.1.95"
                     /EC_number="1.1.1.399"
                     /note="3-phosphoglycerate dehydrogenase; malate
                     dehydrogenase; 2-oxoglutarate reductase; epididymis
                     secretory protein Li 113"
                     /codon_start=1
                     /product="D-3-phosphoglycerate dehydrogenase"
                     /protein_id="NP_006614.2"
                     /db_xref="CCDS:CCDS904.1"
                     /db_xref="GeneID:26227"
                     /db_xref="HGNC:HGNC:8923"
                     /db_xref="MIM:606879"
                     /translation="MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAE
                     LQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGN
                     SLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREV
                     ATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLN
                     DNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHE
                     NVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIG
                     LAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVN
                     AKLLVKEAGLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNG
                     AVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHV
                     MGISSLLPSLEAWKQHVTEAFQFHF"
     exon            228..379
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            380..445
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            446..500
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            501..599
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            600..732
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            733..881
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1034
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1167
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1298
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1536
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1866
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1847..1852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /note="hexamer: AATAAA"
     polyA_site      1866
                     /gene="PHGDH"
                     /gene_synonym="3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG;
                     PGAD; PGD; PGDH; PHGDHD; SERA"
                     /note="major polyA site"
ORIGIN      
        1 ccagttactc tagcgcgcca ggccgaaccg cagcttcttg gcttaggtac ttctactcac
       61 agcggccgat tccgaggcca actccagcaa tggcttttgc aaatctgcgg aaagtgctca
      121 tcagtgacag cctggaccct tgctgccgga agatcttgca agatggaggg ctgcaggtgg
      181 tggaaaagca gaaccttagc aaagaggagc tgatagcgga gctgcaggac tgtgaaggcc
      241 ttattgttcg ctctgccacc aaggtgaccg ctgatgtcat caacgcagct gagaaactcc
      301 aggtggtggg cagggctggc acaggtgtgg acaatgtgga tctggaggcc gcaacaagga
      361 agggcatctt ggttatgaac acccccaatg ggaacagcct cagtgccgca gaactcactt
      421 gtggaatgat catgtgcctg gccaggcaga ttccccaggc gacggcttcg atgaaggacg
      481 gcaaatggga gcggaagaag ttcatgggaa cagagctgaa tggaaagacc ctgggaattc
      541 ttggcctggg caggattggg agagaggtag ctacccggat gcagtccttt gggatgaaga
      601 ctatagggta tgaccccatc atttccccag aggtctcggc ctcctttggt gttcagcagc
      661 tgcccctgga ggagatctgg cctctctgtg atttcatcac tgtgcacact cctctcctgc
      721 cctccacgac aggcttgctg aatgacaaca cctttgccca gtgcaagaag ggggtgcgtg
      781 tggtgaactg tgcccgtgga gggatcgtgg acgaaggcgc cctgctccgg gccctgcagt
      841 ctggccagtg tgccggggct gcactggacg tgtttacgga agagccgcca cgggaccggg
      901 ccttggtgga ccatgagaat gtcatcagct gtccccacct gggtgccagc accaaggagg
      961 ctcagagccg ctgtggggag gaaattgctg ttcagttcgt ggacatggtg aaggggaaat
     1021 ctctcacggg ggttgtgaat gcccaggccc ttaccagtgc cttctctcca cacaccaagc
     1081 cttggattgg tctggcagaa gctctgggga cactgatgcg agcctgggct gggtccccca
     1141 aagggaccat ccaggtgata acacagggaa catccctgaa gaatgctggg aactgcctaa
     1201 gccccgcagt cattgtcggc ctcctgaaag aggcttccaa gcaggcggat gtgaacttgg
     1261 tgaacgctaa gctgctggtg aaagaggctg gcctcaatgt caccacctcc cacagccctg
     1321 ctgcaccagg ggagcaaggc ttcggggaat gcctcctggc cgtggccctg gcaggcgccc
     1381 cttaccaggc tgtgggcttg gtccaaggca ctacgcctgt actgcagggg ctcaatggag
     1441 ctgtcttcag gccagaagtg cctctccgca gggacctgcc cctgctccta ttccggactc
     1501 agacctctga ccctgcaatg ctgcctacca tgattggcct cctggcagag gcaggcgtgc
     1561 ggctgctgtc ctaccagact tcactggtgt cagatgggga gacctggcac gtcatgggca
     1621 tctcctcctt gctgcccagc ctggaagcgt ggaagcagca tgtgactgaa gccttccagt
     1681 tccacttcta accttggagc tcactggtcc ctgcctctgg ggcttttctg aagaaaccca
     1741 cccactgtga tcaataggga gagaaaatcc acattcttgg gctgaacgcg ggcctctgac
     1801 actgcttaca ctgcactctg accctgtagt acagcaataa ccgtctaata aagagcctac
     1861 ccccaa
//
