LOCUS       NM_001286496            2690 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens PIF1 5'-to-3' DNA helicase (PIF1), transcript variant
            1, mRNA.
ACCESSION   NM_001286496
VERSION     NM_001286496.2
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 2690)
  AUTHORS   Zhao,Y., Wu,J., Guan,S., Xue,T., Wei,X., Cao,D., Kong,P. and
            Zhang,X.
  TITLE     PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced
            Apoptosis of Pulmonary Artery Endothelial Cells
  JOURNAL   Int J Chron Obstruct Pulmon Dis 18, 1319-1332 (2023)
   PUBMED   37396201
  REMARK    GeneRIF: PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced
            Apoptosis of Pulmonary Artery Endothelial Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2690)
  AUTHORS   Zhang,T., Wu,D.M., Luo,P.W., Liu,T., Han,R., Deng,S.H., He,M.,
            Zhao,Y.Y. and Xu,Y.
  TITLE     CircNEIL3 mediates pyroptosis to influence lung adenocarcinoma
            radiotherapy by upregulating PIF1 through miR-1184 inhibition
  JOURNAL   Cell Death Dis 13 (2), 167 (2022)
   PUBMED   35190532
  REMARK    GeneRIF: CircNEIL3 mediates pyroptosis to influence lung
            adenocarcinoma radiotherapy by upregulating PIF1 through miR-1184
            inhibition.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2690)
  AUTHORS   Li,S., Wang,H., Jehi,S., Li,J., Liu,S., Wang,Z., Truong,L.,
            Chiba,T., Wang,Z. and Wu,X.
  TITLE     PIF1 helicase promotes break-induced replication in mammalian cells
  JOURNAL   EMBO J 40 (8), e104509 (2021)
   PUBMED   33470420
  REMARK    GeneRIF: PIF1 helicase promotes break-induced replication in
            mammalian cells.
REFERENCE   4  (bases 1 to 2690)
  AUTHORS   Kazak,L., Reyes,A., Duncan,A.L., Rorbach,J., Wood,S.R.,
            Brea-Calvo,G., Gammage,P.A., Robinson,A.J., Minczuk,M. and
            Holt,I.J.
  TITLE     Alternative translation initiation augments the human mitochondrial
            proteome
  JOURNAL   Nucleic Acids Res 41 (4), 2354-2369 (2013)
   PUBMED   23275553
REFERENCE   5  (bases 1 to 2690)
  AUTHORS   Gu,Y., Masuda,Y. and Kamiya,K.
  TITLE     Biochemical analysis of human PIF1 helicase and functions of its
            N-terminal domain
  JOURNAL   Nucleic Acids Res 36 (19), 6295-6308 (2008)
   PUBMED   18835853
  REMARK    GeneRIF: Evidence that the PIF1 N-terminal (PINT) domain as crucial
            functions in PIF1 helicase.
REFERENCE   6  (bases 1 to 2690)
  AUTHORS   Futami,K., Shimamoto,A. and Furuichi,Y.
  TITLE     Mitochondrial and nuclear localization of human Pif1 helicase
  JOURNAL   Biol Pharm Bull 30 (9), 1685-1692 (2007)
   PUBMED   17827721
  REMARK    GeneRIF: hPif1 in the nucleus may be involved in chromosome
            maintenance in association with DNA replication
REFERENCE   7  (bases 1 to 2690)
  AUTHORS   Mateyak,M.K. and Zakian,V.A.
  TITLE     Human PIF helicase is cell cycle regulated and associates with
            telomerase
  JOURNAL   Cell Cycle 5 (23), 2796-2804 (2006)
   PUBMED   17172855
  REMARK    GeneRIF: Human PIF, like S. cerevisiae Pif1p, plays a role in
            telomerase regulation.
REFERENCE   8  (bases 1 to 2690)
  AUTHORS   Huang,Y., Zhang,D.H. and Zhou,J.Q.
  TITLE     Characterization of ATPase activity of recombinant human Pif1
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 38 (5), 335-341 (2006)
   PUBMED   16680374
REFERENCE   9  (bases 1 to 2690)
  AUTHORS   Zhang,D.H., Zhou,B., Huang,Y., Xu,L.X. and Zhou,J.Q.
  TITLE     The human Pif1 helicase, a potential Escherichia coli RecD
            homologue, inhibits telomerase activity
  JOURNAL   Nucleic Acids Res 34 (5), 1393-1404 (2006)
   PUBMED   16522649
  REMARK    GeneRIF: hPif1 may regulate telomere elongation by decreasing
            telomerase processivity, possibly via a mechanism that involves the
            unwinding of telomerase RNA from telomeric DNA by hPif1.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2690)
  AUTHORS   Zhou,J., Monson,E.K., Teng,S.C., Schulz,V.P. and Zakian,V.A.
  TITLE     Pif1p helicase, a catalytic inhibitor of telomerase in yeast
  JOURNAL   Science 289 (5480), 771-774 (2000)
   PUBMED   10926538
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB185926.1, EU084033.1 and
            BC033254.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001286496.1.
            
            Summary: This gene encodes a DNA-dependent adenosine triphosphate
            (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA
            helicase. The encoded protein can resolve G-quadruplex structures
            and RNA-DNA hybrids at the ends of chromosomes. It also prevents
            telomere elongation by inhibiting the actions of telomerase.
            Alternative splicing and the use of alternative start codons
            results in multiple isoforms that are differentially localized to
            either the mitochondria or the nucleus. [provided by RefSeq, Nov
            2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. This variant can initiate translation from both an
            upstream and a downstream AUG start codon. The isoform represented
            in this variant (a, also known as alpha or alpha-1) initiates
            translation from the upstream AUG. This isoform localizes to the
            nucleus (PMID: 17827721). Variants 1 and 2 encode the same isoform
            (a).
            
            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 :: EU084033.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 17827721, 23275553
            MANE Ensembl match                 :: ENST00000559239.2/
                                                  ENSP00000452792.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AB185926.1         22-29
            9-2074              EU084033.1         1-2066
            2075-2690           BC033254.1         937-1552
FEATURES             Location/Qualifiers
     source          1..2690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..2690
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /note="PIF1 5'-to-3' DNA helicase"
                     /db_xref="GeneID:80119"
                     /db_xref="HGNC:HGNC:26220"
                     /db_xref="MIM:610953"
     exon            1..79
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            80..656
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..2024
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /EC_number="3.6.4.12"
                     /note="isoform a is encoded by transcript variant 1; PIF1
                     5'-to-3' DNA helicase homolog; DNA repair and
                     recombination helicase PIF1; petite integration frequency
                     1; ATP-dependent DNA helicase PIF1; PIF1/RRM3 DNA
                     helicase-like protein"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase PIF1 isoform a"
                     /protein_id="NP_001273425.1"
                     /db_xref="CCDS:CCDS10195.2"
                     /db_xref="GeneID:80119"
                     /db_xref="HGNC:HGNC:26220"
                     /db_xref="MIM:610953"
                     /translation="MLSGIEAAAGEYEDSELRCRVAVEELSPGGQPRRRQALRTAELS
                     LGRNERRELMLRLQAPGPAGRPRCFPLRAARLFTRFAEAGRSTLRLPAHDTPGAGAVQ
                     LLLSDCPPDRLRRFLRTLRLKLAAAPGPGPASARAQLLGPRPRDFVTISPVQPEERRL
                     RAATRVPDTTLVKRPVEPQAGAEPSTEAPRWPLPVKRLSLPSTKPQLSEEQAAVLRAV
                     LKGQSIFFTGSAGTGKSYLLKRILGSLPPTGTVATASTGVAACHIGGTTLHAFAGIGS
                     GQAPLAQCVALAQRPGVRQGWLNCQRLVIDEISMVEADLFDKLEAVARAVRQQNKPFG
                     GIQLIICGDFLQLPPVTKGSQPPRFCFQSKSWKRCVPVTLELTKVWRQADQTFISLLQ
                     AVRLGRCSDEVTRQLQATASHKVGRDGIVATRLCTHQDDVALTNERRLQELPGKVHRF
                     EAMDSNPELASTLDAQCPVSQLLQLKLGAQVMLVKNLSVSRGLVNGARGVVVGFEAEG
                     RGLPQVRFLCGVTEVIHADRWTVQATGGQLLSRQQLPLQLAWAMSIHKSQGMTLDCVE
                     ISLGRVFASGQAYVALSRARSLQGLRVLDFDPMAVRCDPRVLHFYATLRRGRSLSLES
                     PDDDEAASDQENMDPIL"
     exon            657..789
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            790..915
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1069
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1184
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1291
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1431
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1538
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1626
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1772
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1964
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..2690
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2666..2671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /note="hexamer: AATAAA"
     polyA_site      2690
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /note="major polyA site"
ORIGIN      
        1 ggagcttagc cacaggccgg ctacgatctg cttgttcatc tgagtgtcgg cacaagtgag
       61 tgtctgcccg aacccagaga ccagcagagg cggtgacgat gctctcgggc atagaggcgg
      121 cggcagggga atatgaggac tcggagctgc ggtgccgcgt ggctgtggag gagctgagcc
      181 cgggcgggca gccgcgaagg cgccaggccc tgcgcaccgc ggagctgagc ctgggtcgca
      241 acgagcgccg cgagttgatg ctgcggctgc aagcgccagg gcccgcgggg cggccgcgct
      301 gctttcctct gcgcgccgcg cgcctcttca cgcgtttcgc cgaggccggg cgcagcaccc
      361 tgcggctccc cgcccacgac acccccgggg ccggcgcagt gcagctgctg ctctcggact
      421 gccccccaga ccgcctgcgc cgcttcctgc gcacattgcg cctcaagctg gctgcggccc
      481 cgggtcccgg gccggcctcc gcccgagcgc agctgctggg cccgcggccc cgcgacttcg
      541 tcaccatcag ccctgtgcag cccgaggagc ggcggctcag ggcggccacc cgggttccgg
      601 acactacgct ggtgaagcgg cctgtggagc cccaggctgg ggccgagcct agcacagaag
      661 ccccaaggtg gcccctgcct gtgaagaggc tgagcttgcc ctccaccaag ccacagcttt
      721 ctgaggaaca ggctgctgtg ctgagggccg tcctgaaagg ccagagcatc ttcttcactg
      781 ggagtgcagg aacagggaag tcatatctgc taaagcgaat cctgggctca ctgcccccca
      841 caggcactgt ggccactgcc agcactgggg tggcagcctg ccacatcggg ggcaccaccc
      901 tccatgcctt tgcaggcatc ggctcaggcc aggctcctct agcccagtgt gtggccctgg
      961 cccaaaggcc aggcgtgcgg cagggctggc tgaactgcca gcggttggtc attgacgaga
     1021 tctcaatggt ggaggcagac ctgtttgaca aactggaggc cgtggccaga gctgtccggc
     1081 agcagaacaa gccattcgga gggatccagc tcatcatctg tggggacttt ctgcagctgc
     1141 cacctgtgac caagggctcc cagcccccac ggttctgctt ccagtccaag agctggaaga
     1201 ggtgtgtgcc agtgaccctg gagctgacca aggtgtggag gcaggcagac cagaccttca
     1261 tctctctact gcaggccgtg aggctaggca ggtgttcaga tgaggtgacc cgccagctcc
     1321 aggccacagc ttcccacaag gtggggcgag atgggattgt ggccacgagg ctctgcaccc
     1381 accaggatga tgtggccctc accaacgaga ggcggcttca ggagctgcca ggtaaggtac
     1441 acagatttga ggctatggac agcaaccctg agctggccag taccctggat gcccagtgtc
     1501 ctgttagcca gctccttcaa ctaaagctgg gggcccaggt gatgctggtg aaaaacttat
     1561 cggtgtctcg gggcctggtg aatggtgccc gaggggtggt agttgggttc gaggcagaag
     1621 ggagagggct accccaggtg cggttcctgt gtggagtcac tgaggtcatc cacgctgacc
     1681 gctggacggt gcaggccacc gggggccagc tcctcagtcg gcagcagctg cccctccagc
     1741 tggcctgggc gatgtccatc cacaagagcc aaggcatgac cctggattgt gtggagattt
     1801 ctctgggccg tgtgtttgcc agtggccagg cctatgtggc cctttctcgg gcccgcagcc
     1861 tgcagggcct acgtgtgctg gactttgacc ccatggcggt tcgctgtgac ccccgtgtgc
     1921 tgcacttcta tgccaccctg cggcggggca ggagcctcag tctggagtcc ccagatgatg
     1981 atgaggcagc ctcagaccag gagaacatgg acccaatcct ctgagcctca cccacaaaga
     2041 gaagacaaag ggtggcctgt ggcctccccg tcctcctgct ccctagtggc ccagggcccc
     2101 agggaataac tggagtaggc aggcagtgtc cccttctgta ttttttaggg actctcagcc
     2161 tcctggcagg gttaaaggga gagtacttta aacccatata ccagctgtgc ttcagtttct
     2221 ctcactttgc cctgggtaag ctgctgtagg gtcagaagta accctttctg tgccagttga
     2281 gaatgagcct gtgtggtagc tgatgtcaga ggacaaagct ctctgcaagg gctggacaca
     2341 gagctgcaga gtcctgaaca tccctccttt caggctgcag aagggagagg caatgaagac
     2401 aggtgctccg gaagcagcat cagggctctt ggaggggact ggtggggact caggctgggt
     2461 gcagcctcca aacagagaac ggaacttagg tgtgtctcta cagctaggcc cagcctagcc
     2521 cagcccagaa caaacaccct tcagagccta accaaagaac ataagctgca aaatgtgcac
     2581 ccatatttta agctgctttt tcaggggata aatagtgttt ggggacattg aaatggatgt
     2641 tctcaggttg tatttatttc ggacaaataa actagagaat tgtgtaaaaa
//
