LOCUS       NM_001422               2317 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens E74 like ETS transcription factor 5 (ELF5), transcript
            variant 2, mRNA.
ACCESSION   NM_001422
VERSION     NM_001422.4
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 2317)
  AUTHORS   Pietzner,M., Chua,R.L., Wheeler,E., Jechow,K., Willett,J.D.S.,
            Radbruch,H., Trump,S., Heidecker,B., Zeberg,H., Heppner,F.L.,
            Eils,R., Mall,M.A., Richards,J.B., Sander,L.E., Lehmann,I.,
            Lukassen,S., Wareham,N.J., Conrad,C. and Langenberg,C.
  TITLE     ELF5 is a potential respiratory epithelial cell-specific risk gene
            for severe COVID-19
  JOURNAL   Nat Commun 13 (1), 4484 (2022)
   PUBMED   35970849
  REMARK    GeneRIF: ELF5 is a potential respiratory epithelial cell-specific
            risk gene for severe COVID-19.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2317)
  AUTHORS   Kousathanas,A., Pairo-Castineira,E., Rawlik,K., Stuckey,A.,
            Odhams,C.A., Walker,S., Russell,C.D., Malinauskas,T., Wu,Y.,
            Millar,J., Shen,X., Elliott,K.S., Griffiths,F., Oosthuyzen,W.,
            Morrice,K., Keating,S., Wang,B., Rhodes,D., Klaric,L., Zechner,M.,
            Parkinson,N., Siddiq,A., Goddard,P., Donovan,S., Maslove,D.,
            Nichol,A., Semple,M.G., Zainy,T., Maleady-Crowe,F., Todd,L.,
            Salehi,S., Knight,J., Elgar,G., Chan,G., Arumugam,P., Patch,C.,
            Rendon,A., Bentley,D., Kingsley,C., Kosmicki,J.A., Horowitz,J.E.,
            Baras,A., Abecasis,G.R., Ferreira,M.A.R., Justice,A., Mirshahi,T.,
            Oetjens,M., Rader,D.J., Ritchie,M.D., Verma,A., Fowler,T.A.,
            Shankar-Hari,M., Summers,C., Hinds,C., Horby,P., Ling,L.,
            McAuley,D., Montgomery,H., Openshaw,P.J.M., Elliott,P., Walsh,T.,
            Tenesa,A., Fawkes,A., Murphy,L., Rowan,K., Ponting,C.P., Vitart,V.,
            Wilson,J.F., Yang,J., Bretherick,A.D., Scott,R.H., Hendry,S.C.,
            Moutsianas,L., Law,A., Caulfield,M.J. and Baillie,J.K.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (bases 1 to 2317)
  AUTHORS   Miyano,M., Sayaman,R.W., Shalabi,S.F., Senapati,P., Lopez,J.C.,
            Angarola,B.L., Hinz,S., Zirbes,A., Anczukow,O., Yee,L.D.,
            Sedrak,M.S., Stampfer,M.R., Seewaldt,V.L. and LaBarge,M.A.
  TITLE     Breast-Specific Molecular Clocks Comprised of ELF5 Expression and
            Promoter Methylation Identify Individuals Susceptible to Cancer
            Initiation
  JOURNAL   Cancer Prev Res (Phila) 14 (8), 779-794 (2021)
   PUBMED   34140348
  REMARK    GeneRIF: Breast-Specific Molecular Clocks Comprised of ELF5
            Expression and Promoter Methylation Identify Individuals
            Susceptible to Cancer Initiation.
REFERENCE   4  (bases 1 to 2317)
  AUTHORS   Qu,X., Li,Q., Tu,S., Yang,X. and Wen,W.
  TITLE     ELF5 inhibits the proliferation and invasion of breast cancer cells
            by regulating CD24
  JOURNAL   Mol Biol Rep 48 (6), 5023-5032 (2021)
   PUBMED   34146197
  REMARK    GeneRIF: ELF5 inhibits the proliferation and invasion of breast
            cancer cells by regulating CD24.
REFERENCE   5  (bases 1 to 2317)
  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   6  (bases 1 to 2317)
  AUTHORS   Lapinskas,E.J., Palmer,J., Ricardo,S., Hertzog,P.J., Hammacher,A.
            and Pritchard,M.A.
  TITLE     A major site of expression of the ets transcription factor Elf5 is
            epithelia of exocrine glands
  JOURNAL   Histochem Cell Biol 122 (6), 521-526 (2004)
   PUBMED   15655699
REFERENCE   7  (bases 1 to 2317)
  AUTHORS   Baron,R.M., Palmer,L.J., Tantisira,K., Gabriel,S., Sonna,L.A.,
            Le,L., Hallock,A., Libermann,T.A., Drazen,J.M., Weiss,S.T. and
            Silverman,E.S.
  TITLE     DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are
            not associated with asthma
  JOURNAL   Am J Respir Crit Care Med 166 (7), 927-932 (2002)
   PUBMED   12359648
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2317)
  AUTHORS   Oettgen,P., Kas,K., Dube,A., Gu,X., Grall,F., Thamrongsak,U.,
            Akbarali,Y., Finger,E., Boltax,J., Endress,G., Munger,K., Kunsch,C.
            and Libermann,T.A.
  TITLE     Characterization of ESE-2, a novel ESE-1-related Ets transcription
            factor that is restricted to glandular epithelium and
            differentiated keratinocytes
  JOURNAL   J Biol Chem 274 (41), 29439-29452 (1999)
   PUBMED   10506207
REFERENCE   9  (bases 1 to 2317)
  AUTHORS   Zhou,J., Ng,A.Y., Tymms,M.J., Jermiin,L.S., Seth,A.K., Thomas,R.S.
            and Kola,I.
  TITLE     A novel transcription factor, ELF5, belongs to the ELF subfamily of
            ETS genes and maps to human chromosome 11p13-15, a region subject
            to LOH and rearrangement in human carcinoma cell lines
  JOURNAL   Oncogene 17 (21), 2719-2732 (1998)
   PUBMED   9840936
REFERENCE   10 (bases 1 to 2317)
  AUTHORS   Sharrocks,A.D., Brown,A.L., Ling,Y. and Yates,P.R.
  TITLE     The ETS-domain transcription factor family
  JOURNAL   Int J Biochem Cell Biol 29 (12), 1371-1387 (1997)
   PUBMED   9570133
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137224.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001422.3.
            
            Summary: This gene encodes an epithelium-specific ETS family
            transcription factor. In addition to its role in regulating the
            later stages of terminal differentiation of keratinocytes, it
            appears to regulate a number of epithelium-specific genes found in
            tissues containing glandular epithelium such as salivary gland and
            prostate. It has very low affinity to DNA due to its negative
            regulatory domain at the amino terminus. This gene has been
            implicated as a tumor suppressive transcription factor in breast
            cancer. [provided by RefSeq, May 2022].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2,
            also called ESE-2b) has a shorter and distinct N-terminus 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 :: SRR14038192.1136342.1, AK075197.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA1970526 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000257832.7/ ENSP00000257832.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-118               AL137224.17        46704-46821
            119-243             AL137224.17        54745-54869
            244-477             AL137224.17        66786-67019
            478-528             AL137224.17        70439-70489
            529-597             AL137224.17        77999-78067
            598-793             AL137224.17        79531-79726
            794-2317            AL137224.17        80184-81707
FEATURES             Location/Qualifiers
     source          1..2317
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2317
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /note="E74 like ETS transcription factor 5"
                     /db_xref="GeneID:2001"
                     /db_xref="HGNC:HGNC:3320"
                     /db_xref="MIM:605169"
     exon            1..118
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     exon            119..243
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..890
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     epithelium-specific Ets transcription factor 2;
                     ETS-related transcription factor Elf-5;
                     epithelium-restricted ESE-1-related Ets factor; E74-like
                     factor 5 (ets domain transcription factor)"
                     /codon_start=1
                     /product="ETS-related transcription factor Elf-5 isoform
                     2"
                     /protein_id="NP_001413.1"
                     /db_xref="CCDS:CCDS7893.1"
                     /db_xref="GeneID:2001"
                     /db_xref="HGNC:HGNC:3320"
                     /db_xref="MIM:605169"
                     /translation="MLDSVTHSTFLPNASFCDPLMSWTDLFSNEEYYPAFEHQTACDS
                     YWTSVHPEYWTKRHVWEWLQFCCDQYKLDTNCISFCNFNISGLQLCSMTQEEFVEAAG
                     LCGEYLYFILQNIRTQGYSFFNDAEESKATIKDYADSNCLKTSGIKSQDCHSHSRTSL
                     QSSHLWEFVRDLLLSPEENCGILEWEDREQGIFRVVKSEALAKMWGQRKKNDRMTYEK
                     LSRALRYYYKTGILERVDRRLVYKFGKNAHGWQEDKL"
     exon            244..477
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     exon            478..528
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     exon            529..597
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     exon            598..793
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     exon            794..2317
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2295..2300
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /note="hexamer: AATAAA"
     polyA_site      2317
                     /gene="ELF5"
                     /gene_synonym="ESE2"
                     /note="major polyA site"
ORIGIN      
        1 gtcacttata tcacaaggct acaggtgtct ttatttccac tgcacgctgg tgctgggagc
       61 gcctgccttc tcttgccttg aaagcctcct ctttggacct agccaccgct gccctcacgg
      121 taatgttgga ctcggtgaca cacagcacct tcctgcctaa tgcatccttc tgcgatcccc
      181 tgatgtcgtg gactgatctg ttcagcaatg aagagtacta ccctgccttt gagcatcaga
      241 cagcctgtga ctcatactgg acatcagtcc accctgaata ctggactaag cgccatgtgt
      301 gggagtggct ccagttctgc tgcgaccagt acaagttgga caccaattgc atctccttct
      361 gcaacttcaa catcagtggc ctgcagctgt gcagcatgac acaggaggag ttcgtcgagg
      421 cagctggcct ctgcggcgag tacctgtact tcatcctcca gaacatccgc acacaaggtt
      481 actccttttt taatgacgct gaagaaagca aggccaccat caaagactat gctgattcca
      541 actgcttgaa aacaagtggc atcaaaagtc aagactgtca cagtcatagt agaacaagcc
      601 tccaaagttc tcatctatgg gaatttgtac gagacctgct tctatctcct gaagaaaact
      661 gtggcattct ggaatgggaa gatagggaac aaggaatttt tcgggtggtt aaatcggaag
      721 ccctggcaaa gatgtgggga caaaggaaga aaaatgacag aatgacatat gaaaagttga
      781 gcagagccct gagatactac tataaaacag gaattttgga gcgggttgac cgaaggttag
      841 tgtacaaatt tggaaaaaat gcacacgggt ggcaggaaga caagctatga tctgctccag
      901 gcatcaagct cattttatgg atttctgtct tttaaaacaa tcagattgca atagacattc
      961 gaaaggcttc attttcttct cttttttttt aacctgcaaa catgctgata aaatttctcc
     1021 acatctcagc ttacatttgg attcagagtt gttgtctatg gagggtgaga gcagaaactc
     1081 ttaagaaatc ctttcttctc cctaagggga tgaggggatg atcttttgtg gtgtcttgat
     1141 caaactttat tttcctagag ttgtggaatg acaacagccc atgccattga tgctgatcag
     1201 agaaaaacta ttcaattctg ccattagaga cacatccaat gctcccatcc caaaggttca
     1261 aaagttttca aataactgtg gcagctcacc aaaggtgggg gaaagcatga ttagtttgca
     1321 ggttatggta ggagagggtg agatataaga catacatact ttagatttta aattattaaa
     1381 gtcaaaaatc catagaaaag tatccctttt tttttttttg agacgggttc tcactatgtt
     1441 gcccagggct ggtcttgaac tcctatgctc aagtgatcct cccacctcag cctcccaaag
     1501 tactgtgatt acaagcgtga gccacggcac ctgggcagaa aagtatctta attaatgaaa
     1561 gagctaagcc atcaagctgg gacttaattg gatttaacat aggttcacag aaagtttcct
     1621 aaccagagca tctttttgac cactcagcaa aacttccaca gacatccttc tggacttaaa
     1681 cacttaacat taaccacatt attaattgtt gctgagttta ttcccccttc taactgatgg
     1741 ctggcatctg atatgcagag ttagtcaaca gacactggca tcaattacaa aatcactgct
     1801 gtttctgtga ttcaagctgt caacacaata aaatcgaaat tcattgattc catctcaggt
     1861 ccagatgtta aacgtttata aaaccggaaa tgtcctaaca actctgtaat ggcaaattaa
     1921 attgtgtgtc ttttttgttt tgtctttcta cctgatgtgt attcaagcgc tataacacgt
     1981 atttccttga caaaaatagt gacagtgaat tcacactaat aaatgttcat aggttaaagt
     2041 ctgcactgac attttctcat caatcactgg tatgtaagtt atcagtgact gacagctagg
     2101 tggactgccc ctaggacttc tgtttcacca gagcaggaat caagtggtga ggcactgaat
     2161 cgctgtacag gctgaagacc tccttattag agttgaactt caaagtaact tgttttaaaa
     2221 aatatgaatt actgtaaaat aatctatttt ggattcatgt gttttccagg tggatatagt
     2281 ttgtaaacaa tgtgaataaa gtatttaaca tgttcaa
//
