LOCUS       NM_178500               2071 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens phosphoethanolamine/phosphocholine phosphatase 1
            (PHOSPHO1), transcript variant 2, mRNA.
ACCESSION   NM_178500
VERSION     NM_178500.4
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 2071)
  AUTHORS   Chen,T.R., Cao,H.M., Wu,Y., Xie,J.T., Lan,H.F. and Jin,L.N.
  TITLE     PHOSPHO1 Serves as a Key Metabolism-Related Biomarker in the
            Tumorigenesis of Diffuse Large B-cell Lymphoma
  JOURNAL   Curr Med Sci 42 (4), 754-768 (2022)
   PUBMED   35943680
  REMARK    GeneRIF: PHOSPHO1 Serves as a Key Metabolism-Related Biomarker in
            the Tumorigenesis of Diffuse Large B-cell Lymphoma.
            Erratum:[Curr Med Sci. 2023 Apr;43(2):421. doi:
            10.1007/s11596-023-2710-0.. PMID: 37099217]
REFERENCE   2  (bases 1 to 2071)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2071)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2071)
  AUTHORS   Sayols-Baixeras,S., Subirana,I., Lluis-Ganella,C., Civeira,F.,
            Roquer,J., Do,A.N., Absher,D., Cenarro,A., Munoz,D.,
            Soriano-Tarraga,C., Jimenez-Conde,J., Ordovas,J.M., Senti,M.,
            Aslibekyan,S., Marrugat,J., Arnett,D.K. and Elosua,R.
  TITLE     Identification and validation of seven new loci showing
            differential DNA methylation related to serum lipid profile: an
            epigenome-wide approach. The REGICOR study
  JOURNAL   Hum Mol Genet 25 (20), 4556-4565 (2016)
   PUBMED   28173150
  REMARK    GeneRIF: CpG sites located in PHOSPHO1 gene showed differential
            methylation in association with lipid traits. Genetic variants in
            PHOSPHO1 gene were also associated with lipid profile.
            Erratum:[Hum Mol Genet. 2019 Apr 15;28(8):1402. doi:
            10.1093/hmg/ddy417.. PMID: 30541122]
REFERENCE   5  (bases 1 to 2071)
  AUTHORS   Dayeh,T., Tuomi,T., Almgren,P., Perfilyev,A., Jansson,P.A., de
            Mello,V.D., Pihlajamaki,J., Vaag,A., Groop,L., Nilsson,E. and
            Ling,C.
  TITLE     DNA methylation of loci within ABCG1 and PHOSPHO1 in blood DNA is
            associated with future type 2 diabetes risk
  JOURNAL   Epigenetics 11 (7), 482-488 (2016)
   PUBMED   27148772
  REMARK    GeneRIF: DNA methylation at the PHOSPHO1 locus cg02650017 in blood
            DNA was associated with a decreased risk for future type 2
            diabetes.
REFERENCE   6  (bases 1 to 2071)
  AUTHORS   Roberts,S.J., Stewart,A.J., Schmid,R., Blindauer,C.A., Bond,S.R.,
            Sadler,P.J. and Farquharson,C.
  TITLE     Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2
  JOURNAL   Biochim Biophys Acta 1752 (1), 73-82 (2005)
   PUBMED   16054448
  REMARK    GeneRIF: Models of PHOSPHO2 and PHOSPHO1 suggest subtle differences
            in the charge distributions around the putative substrate entry
            site and in the location of potential H-bond donors.
REFERENCE   7  (bases 1 to 2071)
  AUTHORS   Roberts,S.J., Stewart,A.J., Sadler,P.J. and Farquharson,C.
  TITLE     Human PHOSPHO1 exhibits high specific phosphoethanolamine and
            phosphocholine phosphatase activities
  JOURNAL   Biochem J 382 (Pt 1), 59-65 (2004)
   PUBMED   15175005
REFERENCE   8  (bases 1 to 2071)
  AUTHORS   Houston,B., Stewart,A.J. and Farquharson,C.
  TITLE     PHOSPHO1-A novel phosphatase specifically expressed at sites of
            mineralisation in bone and cartilage
  JOURNAL   Bone 34 (4), 629-637 (2004)
   PUBMED   15050893
REFERENCE   9  (bases 1 to 2071)
  AUTHORS   Stewart,A.J., Schmid,R., Blindauer,C.A., Paisey,S.J. and
            Farquharson,C.
  TITLE     Comparative modelling of human PHOSPHO1 reveals a new group of
            phosphatases within the haloacid dehalogenase superfamily
  JOURNAL   Protein Eng 16 (12), 889-895 (2003)
   PUBMED   14983068
REFERENCE   10 (bases 1 to 2071)
  AUTHORS   Houston,B., Paton,I.R., Burt,D.W. and Farquharson,C.
  TITLE     Chromosomal localization of the chicken and mammalian orthologues
            of the orphan phosphatase PHOSPHO1 gene
  JOURNAL   Anim Genet 33 (6), 451-454 (2002)
   PUBMED   12464021
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004797.1 and AJ457189.1.
            
            On Jun 2, 2019 this sequence version replaced NM_178500.3.
            
            Transcript Variant: This variant (2) uses a different splice site,
            compared to variant 1, that results in the use of an upstream start
            codon. The resulting protein (isoform 2) has a shorter and distinct
            N-terminus when it is compared to 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 :: AJ457189.1, AI040969.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310544.9/ ENSP00000311925.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AC004797.1         90544-90564
            22-297              AJ457189.1         1-276
            298-2067            AJ457189.1         301-2070
            2068-2071           AC004797.1         97962-97965
FEATURES             Location/Qualifiers
     source          1..2071
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..2071
                     /gene="PHOSPHO1"
                     /note="phosphoethanolamine/phosphocholine phosphatase 1"
                     /db_xref="GeneID:162466"
                     /db_xref="HGNC:HGNC:16815"
     exon            1..320
                     /gene="PHOSPHO1"
                     /inference="alignment:Splign:2.1.0"
     exon            321..432
                     /gene="PHOSPHO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             388..1191
                     /gene="PHOSPHO1"
                     /EC_number="3.1.3.75"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphatase, orphan 1"
                     /codon_start=1
                     /product="phosphoethanolamine/phosphocholine phosphatase
                     isoform 2"
                     /protein_id="NP_848595.1"
                     /db_xref="CCDS:CCDS11547.1"
                     /db_xref="GeneID:162466"
                     /db_xref="HGNC:HGNC:16815"
                     /translation="MSGCFPVSGLRCLSRDGRMAAQGAPRFLLTFDFDETIVDENSDD
                     SIVRAAPGQRLPESLRATYREGFYNEYMQRVFKYLGEQGVRPRDLSAIYEAIPLSPGM
                     SDLLQFVAKQGACFEVILISDANTFGVESSLRAAGHHSLFRRILSNPSGPDARGLLAL
                     RPFHTHSCARCPANMCKHKVLSDYLRERAHDGVHFERLFYVGDGANDFCPMGLLAGGD
                     VAFPRRGYPMHRLIQEAQKAEPSSFRASVVPWETAADVRLHLQQVLKSC"
     exon            433..2071
                     /gene="PHOSPHO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2050..2055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHOSPHO1"
                     /note="hexamer: TATAAA"
     polyA_site      2071
                     /gene="PHOSPHO1"
                     /note="major polyA site"
ORIGIN      
        1 gcagcagccg cagcgccggc cgcggctccg gctccggctc cggctcccgg gcatttaaag
       61 gggacgcggc ggctgcccgg gggggatgag gggcaagtgg aggggacggc tcagacgcac
      121 atcatcctca gtccctcggg actggaggga ctcgtgagcc ggagcccaga aatccggggg
      181 tggataagac accgcgtccc ctccaattcc cgtaagcacc ccttgctcca tcctgcgccc
      241 caatacctca gctagccccc ttccccactt cttacactcc aaactcagcc gggacagacc
      301 tctgctgccg ccgcccccac gaacgtgtga cgacggctgg aggccaacag agtccctaca
      361 ggtggtgctc acggtaatgc accgacaatg agtggctgtt ttccagtttc tggcctccgc
      421 tgcctatcta gggacggcag gatggccgcg cagggcgcgc cgcgcttcct cctgaccttc
      481 gacttcgacg agactatcgt ggacgaaaac agcgacgatt cgatcgtgcg cgccgcgccg
      541 ggccagcggc tcccggagag cctgcgagcc acctaccgcg agggcttcta caacgagtac
      601 atgcagcgcg tcttcaagta cctgggcgag cagggcgtgc ggccgcggga cctgagcgcc
      661 atctacgaag ccatcccttt gtcgccaggc atgagcgacc tgctgcagtt tgtggcaaaa
      721 cagggcgcct gcttcgaggt gattctcatc tccgatgcca acacctttgg cgtggagagc
      781 tcgctgcgcg ccgccggcca ccacagcctg ttccgccgca tcctcagcaa cccgtcgggg
      841 ccggatgcgc ggggactgct ggctctgcgg ccgttccaca cacacagctg cgcgcgctgc
      901 cccgccaaca tgtgcaagca caaggtgctc agcgactacc tgcgcgagcg ggcccacgac
      961 ggcgtgcact tcgagcgcct cttctacgtg ggcgacggcg ccaacgactt ctgccccatg
     1021 gggctgctgg cgggcggcga cgtggccttc ccgcgccgcg gctaccccat gcaccgcctc
     1081 attcaggagg cccagaaggc cgagcccagc tcgttccgcg ccagcgtggt gccctgggaa
     1141 acggctgcag atgtgcgcct ccacctgcaa caggtgctga agtcgtgctg agtctggccg
     1201 cctgcagggg ggtacccggg ccaacggcgg agggggcggg gaagggagat tcggcaaaga
     1261 cagctttact actccctttt ccctttggct ttgttatgtc cctctgggaa tttctggaat
     1321 ctcgtatttg ggggcttggg gaagggggct cagagccgtc cctatctatt cagttaaccc
     1381 acctcggctg cctcccccac tccactgtgc acggttgagt tctggagtct gacccatcgc
     1441 ggggtggcgc gcaaaccttg gaaggcagca gtatttcctg gtcctcccaa ctgggaggaa
     1501 ggggcccccc cggcaggtga gagaaggaac atctcccgcc gctgtaactt gttgcctcgg
     1561 gctgcgtgac cgcccctcct ccagtctact gtggagggaa cccaggatcc tgaaattctc
     1621 ctggccgcaa gaactcccca cagaggcaga agagggtctc cacctatggc cccaggcctt
     1681 tgcgatcttg cttcacccac cgcgacccca cactatttct gtgctgtcca cactctcttg
     1741 cctcccgacc cccgcactcc cttctagcac ccccaaagga aaagccagag gaacaatcgc
     1801 ctcctggtgg tggtacgagg tagcgcaccg tccggctcgg gtccggacag ccagtaacct
     1861 cgcagagagt gacggtgtct ccttgcatcc cagcctcgtc tatgcagcaa gagaccaggg
     1921 acttcaccaa agtcaccctc gcgggctggg ccttccacgc atccccccca ccccccatgg
     1981 aacagaaagc catgttttta agcagaacca gcgaaaccca agcccctcct tcctctggtg
     2041 ttttacaact ataaaggagg tgaaggggga a
//
