LOCUS       NM_001377996            2528 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens protein phosphatase with EF-hand domain 1 (PPEF1),
            transcript variant 7, mRNA.
ACCESSION   NM_001377996
VERSION     NM_001377996.1
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 2528)
  AUTHORS   Lavoie-Ouellet,C., Clark,M.E., Ruiz,J., Saindon,A.A. and Leclerc,P.
  TITLE     The protein phosphatase with EF-hand domain 1 is a
            calmodulin-binding protein that interacts with proteins involved in
            sperm capacitation, binding to the zona pellucida, and motility
  JOURNAL   Mol Reprod Dev 88 (4), 302-317 (2021)
   PUBMED   33783058
  REMARK    GeneRIF: The protein phosphatase with EF-hand domain 1 is a
            calmodulin-binding protein that interacts with proteins involved in
            sperm capacitation, binding to the zona pellucida, and motility.
REFERENCE   2  (bases 1 to 2528)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2528)
  AUTHORS   Yadav,L., Tamene,F., Goos,H., van Drogen,A., Katainen,R.,
            Aebersold,R., Gstaiger,M. and Varjosalo,M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   4  (bases 1 to 2528)
  AUTHORS   Park,S.Y., Seo,J., Choi,H.K., Oh,H.J., Guk,G., Lee,Y.H., Lee,J.,
            Jun,W.J., Choi,K.C. and Yoon,H.G.
  TITLE     Protein serine/threonine phosphatase PPEF-1 suppresses genotoxic
            stress response via dephosphorylation of PDCD5
  JOURNAL   Sci Rep 7, 39222 (2017)
   PUBMED   28051100
  REMARK    GeneRIF: Collectively, these data demonstrate that PPEF-1 plays a
            pivotal role in tumorigenesis of lung cancer cells by reducing
            PDCD5-mediated genotoxic stress responses.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2528)
  AUTHORS   St-Denis,N., Gupta,G.D., Lin,Z.Y., Gonzalez-Badillo,B., Veri,A.O.,
            Knight,J.D.R., Rajendran,D., Couzens,A.L., Currie,K.W., Tkach,J.M.,
            Cheung,S.W.T., Pelletier,L. and Gingras,A.C.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   6  (bases 1 to 2528)
  AUTHORS   Ramulu,P., Kennedy,M., Xiong,W.H., Williams,J., Cowan,M., Blesh,D.,
            Yau,K.W., Hurley,J.B. and Nathans,J.
  TITLE     Normal light response, photoreceptor integrity, and rhodopsin
            dephosphorylation in mice lacking both protein phosphatases with EF
            hands (PPEF-1 and PPEF-2)
  JOURNAL   Mol Cell Biol 21 (24), 8605-8614 (2001)
   PUBMED   11713293
REFERENCE   7  (bases 1 to 2528)
  AUTHORS   Herzig,S. and Neumann,J.
  TITLE     Effects of serine/threonine protein phosphatases on ion channels in
            excitable membranes
  JOURNAL   Physiol Rev 80 (1), 173-210 (2000)
   PUBMED   10617768
  REMARK    Review article
REFERENCE   8  (bases 1 to 2528)
  AUTHORS   Huang,X. and Honkanen,R.E.
  TITLE     Molecular cloning, expression, and characterization of a novel
            human serine/threonine protein phosphatase, PP7, that is homologous
            to Drosophila retinal degeneration C gene product (rdgC)
  JOURNAL   J Biol Chem 273 (3), 1462-1468 (1998)
   PUBMED   9430683
REFERENCE   9  (bases 1 to 2528)
  AUTHORS   Sherman,P.M., Sun,H., Macke,J.P., Williams,J., Smallwood,P.M. and
            Nathans,J.
  TITLE     Identification and characterization of a conserved family of
            protein serine/threonine phosphatases homologous to Drosophila
            retinal degeneration C
  JOURNAL   Proc Natl Acad Sci U S A 94 (21), 11639-11644 (1997)
   PUBMED   9326663
REFERENCE   10 (bases 1 to 2528)
  AUTHORS   Montini,E., Rugarli,E.I., Van de Vosse,E., Andolfi,G., Mariani,M.,
            Puca,A.A., Consalez,G.G., den Dunnen,J.T., Ballabio,A. and
            Franco,B.
  TITLE     A novel human serine-threonine phosphatase related to the
            Drosophila retinal degeneration C (rdgC) gene is selectively
            expressed in sensory neurons of neural crest origin
  JOURNAL   Hum Mol Genet 6 (7), 1137-1145 (1997)
   PUBMED   9215685
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z94056.1 and AL096700.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the serine/threonine protein
            phosphatase with EF-hand motif family. The protein contains a
            protein phosphatase catalytic domain, and at least two EF-hand
            calcium-binding motifs in its C terminus. Although its substrate(s)
            is unknown, the encoded protein has been suggested to play a role
            in specific sensory neuron function and/or development. This gene
            shares high sequence similarity with the Drosophila retinal
            degeneration C (rdgC) gene. Several alternatively spliced
            transcript variants, each encoding a distinct isoform, have been
            described. [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 :: AF023455.1, AK290463.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000470157.2/ ENSP00000419273.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-182               Z94056.1           42689-42870
            183-310             Z94056.1           65224-65351
            311-371             Z94056.1           68791-68851
            372-532             Z94056.1           84835-84995
            533-647             Z94056.1           92670-92784
            648-694             Z94056.1           96573-96619
            695-861             Z94056.1           114053-114219
            862-898             Z94056.1           117409-117445
            899-1048            Z94056.1           118942-119091
            1049-1201           Z94056.1           124164-124316
            1202-1387           AL096700.14        4632-4817
            1388-1530           AL096700.14        7143-7285
            1531-1637           AL096700.14        18779-18885
            1638-1801           AL096700.14        24663-24826
            1802-1886           AL096700.14        26491-26575
            1887-2528           AL096700.14        28016-28657
FEATURES             Location/Qualifiers
     source          1..2528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.13"
     gene            1..2528
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /note="protein phosphatase with EF-hand domain 1"
                     /db_xref="GeneID:5475"
                     /db_xref="HGNC:HGNC:9243"
                     /db_xref="MIM:300109"
     exon            1..182
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..2098
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /EC_number="3.1.3.16"
                     /note="isoform 1 is encoded by transcript variant 7;
                     protein phosphatase 7, catalytic subunit, alpha isozyme;
                     serine/threonine-protein phosphatase with EF-hands 1;
                     protein phosphatase, serine/threonine type, with EF-hands;
                     serine/threonine protein phosphatase 7; protein
                     phosphatase with EF calcium-binding domain; protein
                     phosphatase, EF-hand calcium binding domain 1"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase with
                     EF-hands 1 isoform 1"
                     /protein_id="NP_001364925.1"
                     /db_xref="CCDS:CCDS14188.1"
                     /db_xref="GeneID:5475"
                     /db_xref="HGNC:HGNC:9243"
                     /db_xref="MIM:300109"
                     /translation="MGCSSSSTKTRRSDTSLRAALIIQNWYRGYKARLKARQHYALTI
                     FQSIEYADEQGQMQLSTFFSFMLENYTHIHKEELELRNQSLESEQDMRDRWDYVDSID
                     VPDSYNGPRLQFPLTCTDIDLLLEAFKEQQILHAHYVLEVLFETKKVLKQMPNFTHIQ
                     TSPSKEVTICGDLHGKLDDLFLIFYKNGLPSERNPYVFNGDFVDRGKNSIEILMILCV
                     SFLVYPNDLHLNRGNHEDFMMNLRYGFTKEILHKYKLHGKRILQILEEFYAWLPIGTI
                     VDNEILVIHGGISETTDLNLLHRVERNKMKSVLIPPTETNRDHDTDSKHNKVGVTFNA
                     HGRIKTNGSPTEHLTEHEWEQIIDILWSDPRGKNGCFPNTCRGGGCYFGPDVTSKILN
                     KYQLKMLIRSHECKPEGYEICHDGKVVTIFSASNYYEEGSNRGAYIKLCSGTTPRFFQ
                     YQVTKATCFQPLRQRVDTMENSAIKILRERVISRKSDLTRAFQLQDHRKSGKLSVSQW
                     AFCMENILGLNLPWRSLSSNLVNIDQNGNVEYMSSFQNIRIEKPVQEAHSTLVETLYR
                     YRSDLEIIFNAIDTDHSGLISVEEFRAMWKLFSSHYNVHIDDSQVNKLANIMDLNKDG
                     SIDFNEFLKAFYVVHRYEDLMKPDVTNLG"
     exon            183..310
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            311..371
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            372..532
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            533..647
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            648..694
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            695..861
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            862..898
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1048
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1201
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1387
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1530
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1637
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1801
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1886
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     exon            1887..2528
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2506..2511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /note="hexamer: AATAAA"
     polyA_site      2528
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /note="major polyA site"
ORIGIN      
        1 gtattcctca ttagaatcta tgactgaaga ggatcggcta agagtggttc ctcgcagctt
       61 aaagggaggc acttttcaca ctctgtctta aaatcagaag ttgaattcat gaacacatat
      121 gatttagata gaagtcatgg gatgcagcag ttcttcaacg aaaaccagga gatctgacac
      181 atcactgaga gctgcgttga tcatccagaa ctggtaccga ggttacaaag ctcgactgaa
      241 ggccagacaa cactatgccc tcaccatctt ccagtccatc gaatatgctg atgaacaagg
      301 ccaaatgcag ttatccacct tcttttcctt catgttggaa aactacacac atatacataa
      361 ggaagagcta gaattaagaa atcagtctct tgaaagcgaa caggacatga gggatagatg
      421 ggattatgtg gactcgatag atgtcccaga ctcctataat ggtcctcggc tacaatttcc
      481 tctcacttgt acggatattg atttacttct tgaggccttc aaggaacaac agatacttca
      541 tgcccattat gtcttagagg tgctatttga aaccaagaaa gtcctgaagc aaatgccgaa
      601 tttcactcac atacaaactt ctccctccaa agaggtaaca atctgtggtg atttgcatgg
      661 gaaactggat gatctttttt tgatcttcta caagaatggt ctcccctcag agaggaaccc
      721 gtatgttttt aatggtgact ttgtagatcg aggaaagaat tccatagaga tcctaatgat
      781 cctgtgtgtg agttttcttg tctaccccaa tgacctgcac ttgaacagag ggaaccacga
      841 agattttatg atgaatctga ggtatggctt cacgaaagaa attttgcata aatataagct
      901 acatggaaaa agaatcttac aaatcttgga agaattctat gcctggctcc caatcggtac
      961 aatcgttgac aatgaaatcc tggtcatcca tggtgggata tcagagacca cagacttgaa
     1021 tttactccac cgtgtagaga ggaacaagat gaaatctgtg ctgataccac caacggaaac
     1081 aaacagagac catgacactg actcgaagca caataaagta ggtgtgactt ttaatgcaca
     1141 tggaagaatc aaaacaaatg gatctcctac tgaacactta acagagcatg aatgggaaca
     1201 gattattgat attctgtgga gtgatcccag aggcaaaaat ggctgttttc caaatacgtg
     1261 ccgaggaggg ggctgctatt ttggaccaga tgttacttcc aagattctta ataaatacca
     1321 gttgaagatg ctcatcaggt ctcatgaatg taagcccgaa gggtatgaaa tctgtcatga
     1381 tgggaaggtg gtgactatat tttctgcttc taattattat gaagaaggca gcaatcgagg
     1441 agcttacatc aaactatgtt ctggtacaac tcctcgattt ttccagtacc aagtaactaa
     1501 agcaacgtgc tttcagcctc ttcgccaaag agtggatact atggaaaaca gcgccatcaa
     1561 gatattaaga gagagagtga tttcacgaaa aagtgacctt actcgtgctt tccaacttca
     1621 agaccacaga aaatcaggaa aactttctgt gagccagtgg gctttttgca tggagaacat
     1681 tttggggctg aacttaccat ggagatccct cagttcgaat ctggtaaaca tagaccaaaa
     1741 tggaaacgtt gaatacatgt ccagcttcca gaatatccgc attgaaaaac ctgtacaaga
     1801 ggctcattct actctagttg aaactctgta cagatacaga tctgacctgg aaatcatatt
     1861 taatgccatt gacactgatc actcaggcct gatctccgtg gaagaatttc gtgccatgtg
     1921 gaaacttttt agttctcact acaatgttca cattgatgat tcccaagtca ataagcttgc
     1981 caacataatg gacttgaaca aagatggaag cattgacttt aatgagtttt taaaggcttt
     2041 ctatgtagtg catagatatg aagacttgat gaaacctgat gtcaccaacc ttggctaaac
     2101 acaaatgaga gcttccctca ggctccctga aacagctagg cccaaatcac aagtacagtc
     2161 ctttccaaca cccctgaaat tcatagtcag tagcagagaa aagcagatcc caattcatcc
     2221 cacaaacaga tgcatagtat gggttttgga agtccctagc aagctgttat tggtaagatt
     2281 aggttaaatg tcagtaatag gatttggttt cagcattagt acctacatat tgccagtgag
     2341 aaactgggtt ggacctagtg gtgttgtcgt gagtgccacc taaccaggag gccagagcgg
     2401 tttgaaaaca tcctgaaagg aactcataca gcacaagaga aaactactaa gcttgacatc
     2461 tgtgagtgac tgagggagac aggaggaata ccaggttatt catggaataa agtctttcca
     2521 tctttaaa
//
