LOCUS       NM_004577               1974 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphoserine phosphatase (PSPH), transcript variant
            2, mRNA.
ACCESSION   NM_004577
VERSION     NM_004577.4
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 1974)
  AUTHORS   Rawat,V., Malvi,P., Della Manna,D., Yang,E.S., Bugide,S., Zhang,X.,
            Gupta,R. and Wajapeyee,N.
  TITLE     PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1
  JOURNAL   Oncogene 40 (13), 2448-2462 (2021)
   PUBMED   33674745
  REMARK    GeneRIF: PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1.
REFERENCE   2  (bases 1 to 1974)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1974)
  AUTHORS   Park,S.M., Seo,E.H., Bae,D.H., Kim,S.S., Kim,J., Lin,W., Kim,K.H.,
            Park,J.B., Kim,Y.S., Yin,J. and Kim,S.Y.
  TITLE     Phosphoserine Phosphatase Promotes Lung Cancer Progression through
            the Dephosphorylation of IRS-1 and a Noncanonical
            L-Serine-Independent Pathway
  JOURNAL   Mol Cells 42 (8), 604-616 (2019)
   PUBMED   31446747
  REMARK    GeneRIF: a specific interaction between PSPH and IRS1 and the
            dephosphorylation of phospho-IRS-1 by PSPH in lung cancer cells,
            was identified.
REFERENCE   4  (bases 1 to 1974)
  AUTHORS   Haufroid,M., Mirgaux,M., Leherte,L. and Wouters,J.
  TITLE     Crystal structures and snapshots along the reaction pathway of
            human phosphoserine phosphatase
  JOURNAL   Acta Crystallogr D Struct Biol 75 (Pt 6), 592-604 (2019)
   PUBMED   31205021
  REMARK    GeneRIF: three new high-resolution crystal structures of hPSP
            (1.5-2.0 A) in complexes with phosphoserine and with serine, which
            are the substrate and the product of the reaction, respectively,
            and in complex with a noncleavable substrate analogue (homocysteic
            acid) are presented.
REFERENCE   5  (bases 1 to 1974)
  AUTHORS   Liao,L., Ge,M., Zhan,Q., Huang,R., Ji,X., Liang,X. and Zhou,X.
  TITLE     PSPH Mediates the Metastasis and Proliferation of Non-small Cell
            Lung Cancer through MAPK Signaling Pathways
  JOURNAL   Int J Biol Sci 15 (1), 183-194 (2019)
   PUBMED   30662358
  REMARK    GeneRIF: The results suggest that PSPH may act as a putative
            oncogene and a potential therapeutic target in NSCLC.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1974)
  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
REFERENCE   7  (bases 1 to 1974)
  AUTHORS   Veeranna and Shetty,K.T.
  TITLE     Phosphoserine phosphatase of human brain: partial purification,
            characterization, regional distribution, and effect of certain
            modulators including psychoactive drugs
  JOURNAL   Neurochem Res 15 (12), 1203-1210 (1990)
   PUBMED   1965857
REFERENCE   8  (bases 1 to 1974)
  AUTHORS   Minelli,A., Piantanida,M., Maserati,E., Campagnoli,E., Pasquali,F.
            and Danesino,C.
  TITLE     Gene dosage effect in acquired monosomy 7: distinct behaviour of
            beta-glucuronidase and phosphoserine phosphatase
  JOURNAL   Genes Chromosomes Cancer 1 (3), 216-220 (1990)
   PUBMED   1964582
REFERENCE   9  (bases 1 to 1974)
  AUTHORS   Novelli,G. and Dallapiccola,B.
  TITLE     Gene dosage studies regionally assign the phosphoserine phosphatase
            gene to 7p15.1 or 2
  JOURNAL   Ann Genet 31 (3), 195-196 (1988)
   PUBMED   2851960
REFERENCE   10 (bases 1 to 1974)
  AUTHORS   Moro-Furlani,A.M., Turner,V.S. and Hopkinson,D.A.
  TITLE     Genetical and biochemical studies on human phosphoserine
            phosphatase
  JOURNAL   Ann Hum Genet 43 (4), 323-333 (1980)
   PUBMED   6249179
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC052958.1, BC063614.1,
            Y10275.1 and AW574794.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004577.3.
            
            Summary: The protein encoded by this gene belongs to a subfamily of
            the phosphotransferases. This encoded enzyme is responsible for the
            third and last step in L-serine formation. It catalyzes
            magnesium-dependent hydrolysis of L-phosphoserine and is also
            involved in an exchange reaction between L-serine and
            L-phosphoserine. Deficiency of this protein is thought to be linked
            to Williams syndrome. [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 :: SRR1803612.34859.1, BC063614.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000275605.8/ ENSP00000275605.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BC052958.1         137-157
            22-1503             BC063614.1         1-1482
            1504-1636           Y10275.1           1093-1225
            1637-1900           AW574794.1         13-276              c
            1901-1974           Y10275.1           1490-1563
FEATURES             Location/Qualifiers
     source          1..1974
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     gene            1..1974
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /note="phosphoserine phosphatase"
                     /db_xref="GeneID:5723"
                     /db_xref="HGNC:HGNC:9577"
                     /db_xref="MIM:172480"
     exon            1..307
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            308..453
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            454..579
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            580..738
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     CDS             599..1276
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /EC_number="3.1.3.3"
                     /note="L-3-phosphoserine phosphatase; O-phosphoserine
                     phosphohydrolase; PSPase"
                     /codon_start=1
                     /product="phosphoserine phosphatase"
                     /protein_id="NP_004568.2"
                     /db_xref="CCDS:CCDS5522.1"
                     /db_xref="GeneID:5723"
                     /db_xref="HGNC:HGNC:9577"
                     /db_xref="MIM:172480"
                     /translation="MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAV
                     SEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLIAEQPPHLTPGIRELVSRLQERN
                     VQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
                     VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVE
                     LLGELEE"
     exon            739..873
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1019
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1168
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1974
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1877..1882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /note="hexamer: ATTAAA"
     polyA_site      1900
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /note="major polyA site"
     regulatory      1949..1954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /note="hexamer: AATAAA"
     polyA_site      1974
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /note="major polyA site"
ORIGIN      
        1 attggagctt cccggaccgt gtgctcgacg gtgccctagg tgccgtgggg ccacacgcga
       61 gtctgataag caccctcccc cggaatcatg cggtgctgtg aggcctagcg aagatgaaga
      121 tagaatgcaa ggtagaaagt gctggatacc tttagaaagc tgcaggactg gtgcgatggg
      181 agttgagacg taagaacctg cccgtccgta gggctctgga tgctgctgag gcccgaggcc
      241 cctatggcag atttgaaaat tcacccttgt agagtcattc ctgcctttga gcggactccc
      301 ttttaagcag atctcaagag agcgttcggt ggaggccctg ggtctgcaca gctcacctcc
      361 ctgggaactg ctcgcccgag cgtcggagcc ggcgctggcc ccctgcagcc ggaaggttgc
      421 agccgcagga gccccggagg cccaggacac agggctcttg ctcttgcaga atccacaggt
      481 ctttcttgag gaaatctgta gacagaactt tgtgctgcgt ttttatctag ggaaggaaca
      541 gaagagtgtc gtctcctaga aatctagcac tggagaaacg aggaaaattc ttccagcgat
      601 ggtctcccac tcagagctga ggaagctttt ctactcagca gatgctgtgt gttttgatgt
      661 tgacagcacg gtcatcagag aagaaggaat cgatgagcta gccaaaatct gtggcgttga
      721 ggacgcggtg tcagaaatga cacggcgagc catgggcggg gcagtgcctt tcaaagctgc
      781 tctcacagag cgcttagccc tcatccagcc ctccagggag caggtgcaga gactcatagc
      841 agagcaaccc ccacacctga cccccggcat aagggagctg gtaagtcgcc tacaggagcg
      901 aaatgttcag gttttcctaa tatctggtgg ctttaggagt attgtagagc atgttgcttc
      961 aaagctcaat atcccagcaa ccaatgtatt tgccaatagg ctgaaattct actttaacgg
     1021 tgaatatgca ggttttgatg agacgcagcc aacagctgaa tctggtggaa aaggaaaagt
     1081 gattaaactt ttaaaggaaa aatttcattt taagaaaata atcatgattg gagatggtgc
     1141 cacagatatg gaagcctgtc ctcctgctga tgctttcatt ggatttggag gaaatgtgat
     1201 caggcaacaa gtcaaggata acgccaaatg gtatatcact gattttgtag agctgctggg
     1261 agaactggaa gaataacatc cattgtcgta cagctccaaa caacttcaga tgaattttta
     1321 caagttatac agattgatac tgtttgctta cagttgccta ttacaacttg ctatagaaag
     1381 ttggtacaaa tgatctgtac tttaaactac agttaggaat cctagaagat tgcttttttt
     1441 ttttttttaa ctgtagttcc agtattatat gatgactatt gatttcctgg agaggttttt
     1501 tttttttttg agacagaatc ttgctctgtt gcccaggctg gagtgcagtg gcgcggtctc
     1561 ggctcactgc aagctctgcc tcccaggttc acgccattct cctgcctcag cctcccgagt
     1621 agctgggact acaggcaccc gccaccacat ccggctaatt ttttgtattt ttagtagaga
     1681 cggggtttga ccgtgttagc caggatggtc ttgatctcct gaccttgtga tccgcctgcc
     1741 tcagcctccc aaagtgctgg gattacaggc ttgggccacc gcgcccagcc aatgtcctag
     1801 agagttttgt gatctgaatt ctttatgtat atttgtagct atatttcata caaagtgctt
     1861 taagtgtgga gagtcaatta aacaccttta ctcttagaaa tacggattcg gcagccttca
     1921 gtgaatattg gtttctcttt ggtatgtcaa taaaagttta tccgtatgtc agaa
//
