LOCUS       NM_030636               4655 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens endonuclease/exonuclease/phosphatase family domain
            containing 1 (EEPD1), mRNA.
ACCESSION   NM_030636 XM_001129581 XM_001132789
VERSION     NM_030636.3
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 4655)
  AUTHORS   Jin,Y., Xia,Y., Du,H., Xiang,T., Lan,B., Wei,S., Li,H. and Huang,H.
  TITLE     Super-enhancer-associated EEPD1 facilitates EMT-mediated metastasis
            by regulating the PI3K/AKT/mTOR pathway in gastric cancer
  JOURNAL   Biochem Biophys Res Commun 689, 149188 (2023)
   PUBMED   37976838
  REMARK    GeneRIF: Super-enhancer-associated EEPD1 facilitates EMT-mediated
            metastasis by regulating the PI3K/AKT/mTOR pathway in gastric
            cancer.
REFERENCE   2  (bases 1 to 4655)
  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   3  (bases 1 to 4655)
  AUTHORS   Hromas,R., Kim,H.S., Sidhu,G., Williamson,E., Jaiswal,A.,
            Totterdale,T.A., Nole,J., Lee,S.H., Nickoloff,J.A. and Kong,K.Y.
  TITLE     The endonuclease EEPD1 mediates synthetic lethality in
            RAD52-depleted BRCA1 mutant breast cancer cells
  JOURNAL   Breast Cancer Res 19 (1), 122 (2017)
   PUBMED   29145865
  REMARK    GeneRIF: The mechanism by which RAD52 depletion causes synthetic
            lethality in BRCA1 mutant cancer cells depends on the 5'
            endonuclease EEPD1, which normally functions to cleave stressed
            replication forks to initiate HR repair.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4655)
  AUTHORS   Nelson,J.K., Koenis,D.S., Scheij,S., Cook,E.C., Moeton,M.,
            Santos,A., Lobaccaro,J.A., Baron,S. and Zelcer,N.
  TITLE     EEPD1 Is a Novel LXR Target Gene in Macrophages Which Regulates
            ABCA1 Abundance and Cholesterol Efflux
  JOURNAL   Arterioscler Thromb Vasc Biol 37 (3), 423-432 (2017)
   PUBMED   28082258
  REMARK    GeneRIF: EEPD1 is a novel LXR-regulated gene in macrophages and
            that it promotes cellular cholesterol efflux by controlling
            cellular levels and activity of ABCA1.
REFERENCE   5  (bases 1 to 4655)
  AUTHORS   Kim,H.S., Nickoloff,J.A., Wu,Y., Williamson,E.A., Sidhu,G.S.,
            Reinert,B.L., Jaiswal,A.S., Srinivasan,G., Patel,B., Kong,K.,
            Burma,S., Lee,S.H. and Hromas,R.A.
  TITLE     Endonuclease EEPD1 Is a Gatekeeper for Repair of Stressed
            Replication Forks
  JOURNAL   J Biol Chem 292 (7), 2795-2804 (2017)
   PUBMED   28049724
  REMARK    GeneRIF: EEPD1 performs a gatekeeper function for replication fork
            repair by mediating the fork cleavage that permits initiation of
            HR-mediated repair and restart of stressed forks
REFERENCE   6  (bases 1 to 4655)
  AUTHORS   Wu,Y., Lee,S.H., Williamson,E.A., Reinert,B.L., Cho,J.H., Xia,F.,
            Jaiswal,A.S., Srinivasan,G., Patel,B., Brantley,A., Zhou,D.,
            Shao,L., Pathak,R., Hauer-Jensen,M., Singh,S., Kong,K., Wu,X.,
            Kim,H.S., Beissbarth,T., Gaedcke,J., Burma,S., Nickoloff,J.A. and
            Hromas,R.A.
  TITLE     EEPD1 Rescues Stressed Replication Forks and Maintains Genome
            Stability by Promoting End Resection and Homologous Recombination
            Repair
  JOURNAL   PLoS Genet 11 (12), e1005675 (2015)
   PUBMED   26684013
  REMARK    GeneRIF: These data demonstrate that genome stability during
            replication stress is maintained by EEPD1, which initiates HR and
            inhibits cNHEJ and MMEJ.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4655)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   8  (bases 1 to 4655)
  AUTHORS   Ramsuran,V., Kulkarni,H., He,W., Mlisana,K., Wright,E.J.,
            Werner,L., Castiblanco,J., Dhanda,R., Le,T., Dolan,M.J., Guan,W.,
            Weiss,R.A., Clark,R.A., Karim,S.S., Ahuja,S.K. and Ndung'u,T.
  TITLE     Duffy-null-associated low neutrophil counts influence HIV-1
            susceptibility in high-risk South African black women
  JOURNAL   Clin Infect Dis 52 (10), 1248-1256 (2011)
   PUBMED   21507922
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DN998549.1, AK027386.1 and AC007327.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030636.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK027386.1, AB051493.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242108.9/ ENSP00000242108.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DN998549.1         47-47
            2-1640              AK027386.1         1-1639
            1641-1642           AC007327.1         119266-119267
            1643-2256           AK027386.1         1642-2255
            2257-4655           AC007327.1         137194-139592
FEATURES             Location/Qualifiers
     source          1..4655
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.2"
     gene            1..4655
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /note="endonuclease/exonuclease/phosphatase family domain
                     containing 1"
                     /db_xref="GeneID:80820"
                     /db_xref="HGNC:HGNC:22223"
                     /db_xref="MIM:617192"
     exon            1..421
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            422..1491
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     CDS             614..2323
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /codon_start=1
                     /product="endonuclease/exonuclease/phosphatase family
                     domain-containing protein 1"
                     /protein_id="NP_085139.2"
                     /db_xref="CCDS:CCDS34619.1"
                     /db_xref="GeneID:80820"
                     /db_xref="HGNC:HGNC:22223"
                     /db_xref="MIM:617192"
                     /translation="MGSTLGCHRSIPRDPSDLSHSRKFSAACNFSNILVNQERLNINT
                     ATEEELMTLPGVTRAVARSIVEYREYIGGFKKVEDLALVSGVGATKLEQVKFEICVSS
                     KGSSAQHSPSSLRRDLLAEQQPHHLATAVPLTPRVNINTATPAQLMSVRGLSEKMALS
                     IVDFRREHGPFRSVEDLVRMDGINAAFLDRIRHQVFAERSRPPSTHTNGGLTFTAKPH
                     PSPTSLSLQSEDLDLPPGGPTQIISTRPSVEAFGGTRDGRPVLRLATWNLQGCSVEKA
                     NNPGVREVVCMTLLENSIKLLAVQELLDREALEKFCTELNQPTLPNIRKWKGPRGCWK
                     AVVAEKPSSQLQKGAGYAGFLWDAAAGMELRDAGSQESSPSNGHGKLAGPSPYLGRFK
                     VGSHDLTLVNLHLAALTLLGSENPSKNHSDGHRLASFAQTLQETLKGEKDVIILGDFG
                     QGPDSNDYDILRKEKFHHLIPAHTFTNISTKNPQGSKSLDNIWISKSLKKVFTGHWAV
                     VREGLTNPWIPDNWSWGGVASEHCPVLAEFYTEKDWSKKDAPRNGSGVALERSEANIK
                     HER"
     exon            1492..1543
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1654
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1789
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1928
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2123
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..4655
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2824..2829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /note="hexamer: AATAAA"
     polyA_site      2842
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /note="major polyA site"
     regulatory      4629..4634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
                     /note="hexamer: ATTAAA"
     polyA_site      4655
                     /gene="EEPD1"
                     /gene_synonym="HSPC107"
ORIGIN      
        1 gactttggct ttgacaccga ctgcgagcgg gagccgtgcg gctggtgctg ggtctggact
       61 ggctctggcg gatccccgcc cgagttgggc gcaggacttt ttgccggggt aaacgcaact
      121 gcggcggcgc cgccgcaagc cccggtgcag cctcggcggc gggtttcgcc gccgctgccg
      181 ccgcctccga gcagccctgc ggcttctatt cactctggga gagcgatgct aagtttctcc
      241 catagaaaga gccgggacac gcagaccgaa gcggcgtagt cggcttccag ggcctgacca
      301 gtgacccaca cccgcgcgga cgcctaggct ggaggcaggg ggcccgtgct gtcccgggct
      361 gggctcaggc ttccgagccg caggtggaag aggaaccggc gccccgcaga gcggccgaga
      421 ggcggccaag tgaaaggtaa ttttggacac gccaggcatg gaagattcgg tgtttgtcta
      481 tagtaacctc ttcagtccct gaatcctgca ccttccgttt ttctgtgctt gtacggccta
      541 ctgggcttcc tccctagcca gagagctctt ctgcagtggt gcggccttcc cgggagcctg
      601 atcctggcgg accatgggga gcaccctggg ctgccaccgc tccatcccca gggacccctc
      661 ggacctgtcc catagccgca agttcagcgc agcctgtaac ttcagcaaca ttctagtgaa
      721 tcaggagcgg ctcaacatca acactgccac ggaggaggag ctgatgaccc tgcctggggt
      781 gacgcgtgcc gtggcacgca gcatcgtgga gtaccgagag tatatcggtg gcttcaagaa
      841 ggtggaggac ctggcattgg tcagtggtgt aggcgccacc aagctggagc aggtcaagtt
      901 tgagatctgt gtgagcagca agggcagctc agcgcagcac tctcccagtt ccctgcggcg
      961 ggacctgcta gcggagcagc agcctcacca cctggccaca gctgtgcccc tcaccccacg
     1021 tgttaacatc aacacagcca ccccggccca gctcatgagc gtgcgaggcc tctcggagaa
     1081 aatggccctc agcatcgtgg acttccgccg tgagcatggg ccctttcgca gcgttgagga
     1141 cctagtgagg atggatggta tcaatgccgc cttcctggac aggatccggc accaggtgtt
     1201 tgctgagagg tccaggcccc catccaccca cacgaacggg ggactgacct tcaccgccaa
     1261 gcctcacccg agccccactt ccctgagcct gcagagtgag gacctggacc tgccgccagg
     1321 ggggcccacc cagattatct ccactcggcc gtccgtggag gcctttggag gcacaaggga
     1381 tgggaggcct gtgctgaggc tggccacctg gaacttgcag ggctgttccg tggagaaggc
     1441 caacaacccc ggggtgcgag aggtggtgtg catgacactc ctggaaaaca gcatcaagct
     1501 tctagctgtg caagaactgc ttgacagaga ggccttggaa aagttctgca cggagctaaa
     1561 ccagccgacc ctgcccaaca tccgcaagtg gaaggggccc cggggatgct ggaaggctgt
     1621 tgttgctgag aagccctcga gtcagctcca gaagggagct gggtatgcag gattcctatg
     1681 ggacgcggct gccggcatgg agctgagaga cgcgggttca caggagagct cgccaagcaa
     1741 cgggcacggg aagctggcgg gccccagccc atacctcggg aggttcaagg tgggaagtca
     1801 cgacctgacc cttgttaacc ttcacctggc agccctgacc ctcctgggga gcgagaatcc
     1861 cagcaagaat cacagtgatg gccaccggtt ggcgagcttt gcacagaccc tacaggaaac
     1921 cctgaaagga gaaaaggatg tcattatctt aggggatttt ggccaagggc cagacagcaa
     1981 tgactatgat atcctgagga aagaaaagtt ccaccacctg atccccgcgc acaccttcac
     2041 caacatcagc accaagaacc ctcaaggctc gaagtctctg gacaacatct ggatcagtaa
     2101 aagcttaaag aaggttttca caggtcactg ggctgtggtg agagaaggcc tcacgaaccc
     2161 ttggattccg gataactggt cttggggcgg ggtggcttct gaacactgcc cagtgctagc
     2221 cgagttctac actgaaaagg actggagcaa gaaggatgcc cctcggaacg gcagcggggt
     2281 ggccttggag cgaagtgaag ccaacatcaa gcacgagcga tgatgacacc aaatccatgt
     2341 gtccaccctg ggacccagga gggcacagcc aaggaatgag ccctgtgggg tgacgcttca
     2401 gggcagagct gccttttaat ttttattctc agagcatcag cacttgaggc cttgccccac
     2461 gccttctctg tggaccattc aggacctcca gtgggggtgg cgtgccaggc gcgtacccca
     2521 ccaggtgggc aaagcagaaa cctgcgggga gcggagacgc cttttatctc tggatgccac
     2581 agacctgagc agcattgggc tggctgtccg ctgctgactg gatggcagca caaagacaat
     2641 atgagcagag ggaggagaag aaggggtgct caggctgcgg gccacagtcc agcagcgcca
     2701 gaagcactca tttctgacca ccaggctatg acgttcctgc tgcgcattac agaaagcttt
     2761 taactgtgat caggcactct gctcagatac attgagtggc gatttttagt tttgttttga
     2821 aaaaataaac agattaacct gcctcgctgc agtgagagca tgggacaagt ccgccacagc
     2881 cctcccccgc ccccttcccc cgccccccaa cgcgcagtgt gtatttgcac cacggcaggt
     2941 gcctctgtgt ggagctaggg tcaagccctg agcagcttca cttcccctgc gccttttatg
     3001 tccccacctt gaggccttgc agaggcgcct ctcaaggccc catcagctcg ccgggacctc
     3061 tgtgaagcct ctctgtcatc tccccttccc agcccctcct tcatcccctg cctccttcac
     3121 cagcctggct tttgcctgga gcactatttg tttagttctc tttgcaggac aagaattctc
     3181 tcagggtggt atcacctcct ccctcctccc cactcactcc agtttttagc ccggagcctc
     3241 ctgtggttga ctatcaggaa tgtgtgctgt gtcaggatac ataggaagtt gacctcgggg
     3301 tatcatggag agtgtccctc ctagtggctg gaggtaggga cagttggttg tggggctgga
     3361 gagaggttgt ggggaggaag cgaggatgcg tgcctgccac taggcatctg catccccgag
     3421 cccaagccag gagggatttc ccttaggcaa caccatccca gggagatctg ccacaatttg
     3481 cgtttcacag ctgaagacgc tgaggcttag agagctcgac ctcctcaagg tcacaccact
     3541 gggtaaatag agggatgcag actcaggttt tgctatgtgc tcacatttca actttatgct
     3601 taacatgaat ggaaaaatat gaaagtaaat agtgaaaagg taagttatga gcttagatta
     3661 cctagattat tccagtatcc catggaagct gaggacttat tccgctttcc acaccgaaca
     3721 ctaaatgtgg accagtatca agaaccctcc tgtccccacg cagtgtaaac ccagtggctt
     3781 ctctgacctg gagctgatgg gccgtgaagg gggcctattt ttctccaaag gccatccttt
     3841 tggggccacc tggctccaag aagcatcgct ggtcttgggg acgggaaggg aaccctcttc
     3901 caggagctct aagggtactt gggaatcaat tgtgtccatt ctgaggtctc tccagtggga
     3961 gggcggcagc tcctgtccct gggttcaggc tgtgcttctg gaagcatcga aatgggatgt
     4021 ctgagccttg aggaaaagca gcagggttag cattaaagtc aagaggggca gctcaggatg
     4081 ctaccaggga gcacatcgtt tctggtgcct catctaaagg tgaaacctcc cctacattca
     4141 ccagccggat gtcccaaatc cctttagcca gattgctttt tgcaaccaaa gctgtggaca
     4201 gaaaagcctc cttaagtgag ctgaggggac aggaaatcca atcagatgac ctttgtgttc
     4261 gtaatcgggc ttgagccaga ggctggggag ctgagtccca gccaaacctc actggccctt
     4321 ttgcttttca cgcccagggc tcagtggccc aggaagtgtg ctgggcagcc tgttcttact
     4381 ccagctcaac ccattgggtg ttggctgttt ttggttttag ttgttgtttt gtattttgtt
     4441 gttttaatta ataggcttta tttgtaagag cagttttatg tttacagaaa aattaggcac
     4501 aaagggattc ccatatccct cctcttcttt gcatatttcc ccctctaatt agcatgttgc
     4561 attagcatgg cactttgtta caactgatga acttgtattc attattagct acagtgttca
     4621 tagtttatat taaagttcac tctttgtgtt gtgca
//
