LOCUS       NM_012392               1614 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript
            variant 1, mRNA.
ACCESSION   NM_012392
VERSION     NM_012392.4
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 1614)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 1614)
  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 1614)
  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 1614)
  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   5  (bases 1 to 1614)
  AUTHORS   Mena,E.L., Kjolby,R.A.S., Saxton,R.A., Werner,A., Lew,B.G.,
            Boyle,J.M., Harland,R. and Rape,M.
  TITLE     Dimerization quality control ensures neuronal development and
            survival
  JOURNAL   Science 362 (6411) (2018)
   PUBMED   30190310
REFERENCE   6  (bases 1 to 1614)
  AUTHORS   Hansen,C., Tarabykina,S., la Cour,J.M., Lollike,K. and
            Berchtold,M.W.
  TITLE     The PEF family proteins sorcin and grancalcin interact in vivo and
            in vitro
  JOURNAL   FEBS Lett 545 (2-3), 151-154 (2003)
   PUBMED   12804766
REFERENCE   7  (bases 1 to 1614)
  AUTHORS   Satoh,H., Nakano,Y., Shibata,H. and Maki,M.
  TITLE     The penta-EF-hand domain of ALG-2 interacts with amino-terminal
            domains of both annexin VII and annexin XI in a Ca2+-dependent
            manner
  JOURNAL   Biochim Biophys Acta 1600 (1-2), 61-67 (2002)
   PUBMED   12445460
REFERENCE   8  (bases 1 to 1614)
  AUTHORS   Kitaura,Y., Satoh,H., Takahashi,H., Shibata,H. and Maki,M.
  TITLE     Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized
            by dimerization through their fifth EF-hand regions
  JOURNAL   Arch Biochem Biophys 399 (1), 12-18 (2002)
   PUBMED   11883899
  REMARK    GeneRIF: peflin is stabilized by dimerization through its fifth
            EF-hand region
REFERENCE   9  (bases 1 to 1614)
  AUTHORS   Kitaura,Y., Matsumoto,S., Satoh,H., Hitomi,K. and Maki,M.
  TITLE     Peflin and ALG-2, members of the penta-EF-hand protein family, form
            a heterodimer that dissociates in a Ca2+-dependent manner
  JOURNAL   J Biol Chem 276 (17), 14053-14058 (2001)
   PUBMED   11278427
REFERENCE   10 (bases 1 to 1614)
  AUTHORS   Kitaura,Y., Watanabe,M., Satoh,H., Kawai,T., Hitomi,K. and Maki,M.
  TITLE     Peflin, a novel member of the five-EF-hand-protein family, is
            similar to the apoptosis-linked gene 2 (ALG-2) protein but
            possesses nonapeptide repeats in the N-terminal hydrophobic region
  JOURNAL   Biochem Biophys Res Commun 263 (1), 68-75 (1999)
   PUBMED   10486255
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012561.1, AC114488.3 and
            CA307778.1.
            
            On Nov 22, 2018 this sequence version replaced NM_012392.3.
            
            Summary: This gene encodes a calcium-binding protein belonging to
            the penta-EF-hand protein family. The encoded protein has been
            shown to form a heterodimer with the programmed cell death 6 gene
            product and may modulate its function in Ca(2+) signaling.
            Alternative splicing results in multiple transcript variants and a
            pseudogene has been identified on chromosome 1.[provided by RefSeq,
            May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            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 :: SRR1163657.142956.1,
                                           SRR3476690.202122.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373703.5/ ENSP00000362807.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-815               BC012561.1         7-821
            816-849             AC114488.3         65916-65949         c
            850-1611            BC012561.1         856-1617
            1612-1614           CA307778.1         23-25               c
FEATURES             Location/Qualifiers
     source          1..1614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     gene            1..1614
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /note="penta-EF-hand domain containing 1"
                     /db_xref="GeneID:553115"
                     /db_xref="HGNC:HGNC:30009"
                     /db_xref="MIM:610033"
     exon            1..36
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..867
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /note="isoform 1 is encoded by transcript variant 1; PEF
                     protein with a long N-terminal hydrophobic domain;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="peflin isoform 1"
                     /protein_id="NP_036524.1"
                     /db_xref="CCDS:CCDS345.1"
                     /db_xref="GeneID:553115"
                     /db_xref="HGNC:HGNC:30009"
                     /db_xref="MIM:610033"
                     /translation="MASYPYRQGCPGAAGQAPGAPPGSYYPGPPNSGGQYGSGLPPGG
                     GYGGPAPGGPYGPPAGGGPYGHPNPGMFPSGTPGGPYGGAAPGGPYGQPPPSSYGAQQ
                     PGLYGQGGAPPNVDPEAYSWFQSVDSDHSGYISMKELKQALVNCNWSSFNDETCLMMI
                     NMFDKTKSGRIDVYGFSALWKFIQQWKNLFQQYDRDRSGSISYTELQQALSQMGYNLS
                     PQFTQLLVSRYCPRSANPAMQLDRFIQVCTQLQVLTEAFREKDTAVQGNIRLSFEDFV
                     TMTASRML"
     exon            37..337
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /inference="alignment:Splign:2.1.0"
     exon            338..493
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /inference="alignment:Splign:2.1.0"
     exon            494..637
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /inference="alignment:Splign:2.1.0"
     exon            638..1614
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1593..1598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /note="hexamer: AATAAA"
     polyA_site      1614
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /note="major polyA site"
ORIGIN      
        1 gtcagaatca ccatggccag ctatccttac cggcagggct gcccaggagc tgcaggacaa
       61 gcaccaggag cccctccggg tagctactac cctggacccc ccaatagtgg agggcagtat
      121 ggtagtgggc taccccctgg tggtggttat gggggtcctg cccctggagg gccttatgga
      181 ccaccagctg gtggagggcc ctatggacac cccaatcctg ggatgttccc ctctggaact
      241 ccaggaggac catatggcgg tgcagctccc gggggcccct atggtcagcc acctccaagt
      301 tcctacggtg cccagcagcc tgggctttat ggacagggtg gcgcccctcc caatgtggat
      361 cctgaggcct actcctggtt ccagtcggtg gactcagatc acagtggcta tatctccatg
      421 aaggagctaa agcaggccct ggtcaactgc aattggtctt cattcaatga tgagacctgc
      481 ctcatgatga taaacatgtt tgacaagacc aagtcaggcc gcatcgatgt ctacggcttc
      541 tcagccctgt ggaaattcat ccagcagtgg aagaacctct tccagcagta tgaccgggac
      601 cgctcgggct ccattagcta cacagagctg cagcaagctc tgtcccaaat gggctacaac
      661 ctgagccccc agttcaccca gcttctggtc tcccgctact gcccacgctc tgccaatcct
      721 gccatgcagc ttgaccgctt catccaggtg tgcacccagc tgcaggtgct gacagaggcc
      781 ttccgggaga aggacacagc tgtacaaggc aacattcggc tcagcttcga ggacttcgtc
      841 accatgacag cttctcggat gctatgaccc aaccatctgt ggagagtgga gtgcaccagg
      901 gacctttcct ggcttcttag agtgagagaa gtatgtggac atctcttctt ttcctgtccc
      961 tctagaagaa cattctccct tgcttgatgc aacactgttc caaaagaggg tggagagtcc
     1021 tgcatcatag ccaccaaata gtgaggaccg gggctgaggc cacacagata ggggcctgat
     1081 ggaggagagg atagaagttg aatgtcctga tggccatgag cagttgagtg gcacagcctg
     1141 gcaccaggag caggtccttg taatggagtt agtgtccagt cagctgagct ccaccctgat
     1201 gccagtggtg agtgttcatc ggcctgttac cgttagtacc tgtgttccct caccaggcca
     1261 tcctgtcaaa cgagcccatt ttctccaaag tggaatctga ccaagcatga gagagatctg
     1321 tctatgggac cagtggcttg gattctgcca cacccataaa tccttgtgtg ttaacttcta
     1381 gctgcctggg gctggccctg ctcagacaaa tctgctccct gggcatcttt ggccaggctt
     1441 ctgccctctg cagctgggac ccctcacttg cctgccatgc tctgctcggc ttcagtctcc
     1501 aggagacagt ggtcacctct ccctgccaat acttttttta atttgcattt tttttcattt
     1561 ggggccaaaa gtccagtgaa attgtaagct tcaataaaag gatgaaactc tgga
//
