LOCUS       NM_003692               2575 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens transmembrane protein with EGF like and two
            follistatin like domains 1 (TMEFF1), mRNA.
ACCESSION   NM_003692
VERSION     NM_003692.5
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 2575)
  AUTHORS   Chan,Y.H., Liu,Z., Bastard,P., Khobrekar,N., Hutchison,K.M.,
            Yamazaki,Y., Fan,Q., Matuozzo,D., Harschnitz,O., Kerrouche,N.,
            Nakajima,K., Amin,P., Yatim,A., Rinchai,D., Chen,J., Zhang,P.,
            Ciceri,G., Chen,J., Dobbs,K., Belkaya,S., Lee,D., Gervais,A.,
            Aydin,K., Kartal,A., Hasek,M.L., Zhao,S., Reino,E.G., Lee,Y.S.,
            Seeleuthner,Y., Chaldebas,M., Bailey,R., Vanhulle,C., Lorenzo,L.,
            Boucherit,S., Rozenberg,F., Marr,N., Mogensen,T.H., Aubart,M.,
            Cobat,A., Dulac,O., Emiroglu,M., Paludan,S.R., Abel,L.,
            Notarangelo,L., Longnecker,R., Smith,G., Studer,L., Casanova,J.L.
            and Zhang,S.Y.
  TITLE     Human TMEFF1 is a restriction factor for herpes simplex virus in
            the brain
  JOURNAL   Nature 632 (8024), 390-400 (2024)
   PUBMED   39048830
  REMARK    GeneRIF: Human TMEFF1 is a restriction factor for herpes simplex
            virus in the brain.
REFERENCE   2  (bases 1 to 2575)
  AUTHORS   Dai,Y., Idorn,M., Serrero,M.C., Pan,X., Thomsen,E.A., Narita,R.,
            Maimaitili,M., Qian,X., Iversen,M.B., Reinert,L.S., Flygaard,R.K.,
            Chen,M., Ding,X., Zhang,B.C., Carter-Timofte,M.E., Lu,Q., Jiang,Z.,
            Zhong,Y., Zhang,S., Da,L., Zhu,J., Denham,M., Nissen,P.,
            Mogensen,T.H., Mikkelsen,J.G., Zhang,S.Y., Casanova,J.L., Cai,Y.
            and Paludan,S.R.
  TITLE     TMEFF1 is a neuron-specific restriction factor for herpes simplex
            virus
  JOURNAL   Nature 632 (8024), 383-389 (2024)
   PUBMED   39048823
  REMARK    GeneRIF: TMEFF1 is a neuron-specific restriction factor for herpes
            simplex virus.
REFERENCE   3  (bases 1 to 2575)
  AUTHORS   Tian,J., Yang,L., Wang,Z. and Yan,H.
  TITLE     MIR503HG impeded ovarian cancer progression by interacting with
            SPI1 and preventing TMEFF1 transcription
  JOURNAL   Aging (Albany NY) 14 (13), 5390-5405 (2022)
   PUBMED   35771155
  REMARK    GeneRIF: MIR503HG impeded ovarian cancer progression by interacting
            with SPI1 and preventing TMEFF1 transcription.
REFERENCE   4  (bases 1 to 2575)
  AUTHORS   Nie,X., Zheng,M., Gao,L., Hu,Y., Zhuang,Y., Li,X., Zhu,L., Liu,J.
            and Lin,B.
  TITLE     Interaction between TMEFF1 and AHNAK proteins in ovarian cancer
            cells: Implications for clinical prognosis
  JOURNAL   Int Immunopharmacol 107, 108726 (2022)
   PUBMED   35338959
  REMARK    GeneRIF: Interaction between TMEFF1 and AHNAK proteins in ovarian
            cancer cells: Implications for clinical prognosis.
REFERENCE   5  (bases 1 to 2575)
  AUTHORS   Letra,A., Menezes,R., Govil,M., Fonseca,R.F., McHenry,T.,
            Granjeiro,J.M., Castilla,E.E., Orioli,I.M., Marazita,M.L. and
            Vieira,A.R.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2575)
  AUTHORS   Harms,P.W. and Chang,C.
  TITLE     Tomoregulin-1 (TMEFF1) inhibits nodal signaling through direct
            binding to the nodal coreceptor Cripto
  JOURNAL   Genes Dev 17 (21), 2624-2629 (2003)
   PUBMED   14563676
  REMARK    GeneRIF: In Xenopus, TMEFF1 blocks nodal signaling through binding
            to the nodal coreceptor Cripto; it does not associate with either
            nodal or the type I activin receptor-like kinase (ALK) 4 receptor.
REFERENCE   7  (bases 1 to 2575)
  AUTHORS   Gery,S., Yin,D., Xie,D., Black,K.L. and Koeffler,H.P.
  TITLE     TMEFF1 and brain tumors
  JOURNAL   Oncogene 22 (18), 2723-2727 (2003)
   PUBMED   12743596
  REMARK    GeneRIF: This protein may behave as a tumor suppressor gene in
            brain cancers.
REFERENCE   8  (bases 1 to 2575)
  AUTHORS   Eib,D.W., Merkx,G.F., Martens,G.J. and Cremers,F.P.
  TITLE     Assignment1 of H7365 (C9orf2) to human chromosome band 9q31 by
            somatic cell hybrid analysis and fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 180-181 (1998)
   PUBMED   9730596
REFERENCE   9  (bases 1 to 2575)
  AUTHORS   Eib,D.W. and Martens,G.J.
  TITLE     A novel transmembrane protein with epidermal growth factor and
            follistatin domains expressed in the hypothalamo-hypophysial axis
            of Xenopus laevis
  JOURNAL   J Neurochem 67 (3), 1047-1055 (1996)
   PUBMED   8752111
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353805.20, DN602026.1, BC035056.1, BC021991.1 and BF436262.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003692.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.58274.1, BC035056.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374879.5/ ENSP00000364013.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AL353805.20        139242-139330
            90-501              DN602026.1         1-412
            502-1931            BC035056.1         215-1644
            1932-2237           BC021991.1         588-893
            2238-2575           BF436262.1         16-353              c
FEATURES             Location/Qualifiers
     source          1..2575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..2575
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /note="transmembrane protein with EGF like and two
                     follistatin like domains 1"
                     /db_xref="GeneID:8577"
                     /db_xref="HGNC:HGNC:11866"
                     /db_xref="MIM:603421"
     exon            1..592
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..1539
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /note="cancer/testis antigen family 120, member 1;
                     tomoregulin-1; transmembrane protein with EGF-like and one
                     follistatin-like domain"
                     /codon_start=1
                     /product="tomoregulin-1 precursor"
                     /protein_id="NP_003683.2"
                     /db_xref="CCDS:CCDS6750.1"
                     /db_xref="GeneID:8577"
                     /db_xref="HGNC:HGNC:11866"
                     /db_xref="MIM:603421"
                     /translation="MGAAAAEAPLRLPAAPPLAFCCYTSVLLLFAFSLPGSRASNQPP
                     GGGGGSGGDCPGGKGKSINCSELNVRESDVRVCDESSCKYGGVCKEDGDGLKCACQFQ
                     CHTNYIPVCGSNGDTYQNECFLRRAACKHQKEITVIARGPCYSDNGSGSGEGEEEGSG
                     AEVHRKHSKCGPCKYKAECDEDAENVGCVCNIDCSGYSFNPVCASDGSSYNNPCFVRE
                     ASCIKQEQIDIRHLGHCTDTDDTSLLGKKDDGLQYRPDVKDASDQREDVYIGNHMPCP
                     ENLNGYCIHGKCEFIYSTQKASCRCESGYTGQHCEKTDFSILYVVPSRQKLTHVLIAA
                     IIGAVQIAIIVAIVMCITRKCPKNNRGRRQKQNLGHFTSDTSSRMV"
     exon            593..702
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..832
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            833..859
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            860..956
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1105
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1171
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1295
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1454
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..2575
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2556..2561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /note="hexamer: AATATA"
     polyA_site      2575
                     /gene="TMEFF1"
                     /gene_synonym="C9orf2; CT120.1; H7365; TR-1"
                     /note="major polyA site"
ORIGIN      
        1 gtctttgtga cgcggtggca acggccacgg acacaaaggg aaggcgagga ggcgagcaag
       61 aggctgggcc tgcctccggc ccgcgacccc cgcccgccgc gcgcgcgccc gcccgctccc
      121 ctcgccgcgg tgtcccccac gccggctcgc accctcgcgc gcacccttgc gcgcccgcga
      181 ccctcgcacg cgcccggacc cgccgactcc gtcccgagcg ccgcgggccc gggcctggcg
      241 gacgctgcgg gtggggcggg gatgctgacg ggctgctccc cggctcagcg gcgcggctgc
      301 taggaggcac cgaggcagcg gcggggctct gggcgcgcgg ctggatgccc ccggcctgcg
      361 gctccctgcg cttcccgccg tccaggggca ccagtcatgg gcgccgcagc cgctgaggcg
      421 ccgctccggc tgcctgccgc gcctccgctc gccttctgct gctacacgtc ggtgcttctg
      481 ctcttcgcct tctctctgcc cgggagccgc gcgtccaacc agcccccggg tggtggcggc
      541 ggcagcggcg gggactgtcc cggcggcaaa ggcaagagca tcaactgctc agaattaaat
      601 gtgagggagt ctgacgtaag agtttgtgat gagtcatcat gtaaatatgg aggagtctgt
      661 aaagaagatg gagatggttt gaaatgtgca tgccaatttc agtgccatac aaattatatt
      721 cctgtctgtg gatcaaatgg ggacacttat caaaatgaat gctttctcag aagggctgct
      781 tgtaagcacc agaaagagat aacagtaata gcaagaggac catgctactc tgataatgga
      841 tctggatctg gagaaggaga agaggaaggg tcaggggcag aagttcacag aaaacactcc
      901 aagtgtggac cctgcaaata taaagctgag tgtgatgaag atgcagaaaa tgttgggtgt
      961 gtatgtaata tagattgcag tggatacagt tttaatcctg tgtgtgcttc tgatgggagt
     1021 tcctataaca atccctgttt tgttcgagaa gcatcttgta taaagcaaga acaaattgat
     1081 ataaggcatc ttggtcattg cacagataca gatgacacta gtttgttggg aaagaaagat
     1141 gatggactac aatatcgacc agatgtgaaa gatgctagtg atcaaagaga agatgtttat
     1201 attggaaacc acatgccttg ccctgaaaac ctcaatggtt actgcatcca tggaaaatgt
     1261 gaattcatct attctactca gaaggcttct tgtagatgtg aatctggcta cactggacag
     1321 cactgtgaaa agacagactt tagtattctc tatgtagtgc caagtaggca aaagctcact
     1381 catgttctta ttgcagcaat tattggagct gtacagattg ccatcatagt agcaattgta
     1441 atgtgcataa caagaaaatg ccccaaaaac aatagaggac gtcgacagaa gcaaaaccta
     1501 ggtcatttta cttcagatac gtcatccaga atggtttaaa ctgatgactt ttatatgtac
     1561 actgaccatg tgatgtacat ttattatgtc tttttttaaa gaatggaaat atttatttca
     1621 gaggccttat ttttggacat ttttagtgta gtactgttgg ctcgtattta gaatattcag
     1681 ctacgacagt tttggactgt ttagtagtct ttgttttatg tttttaaata cagaaattgc
     1741 tttcacaaat ttgtaccaca tggtaattct aagacttgtt ctttacccat ggaatgtaat
     1801 atttttgcaa agatggacta cttcacaaat ggttataaag tcatatccac ttcttccaca
     1861 atgaccacag caaatgacca agcatgaact aaaggtaaag atgtttacag attacttttc
     1921 ttacaaaaaa aatctagaag acactgtgtt taaatagata tttaaatgtt tttgagattt
     1981 agtaactgat tttttagaca ctgcctatcg catgaactgt aaagctgtgt gtattaggtg
     2041 taaaatattt ataagatata tggactgggg aatttgatta ttcctccctt tgaaaaaata
     2101 gtcctaataa tttgaacaaa tatgttagta atgatggaac agatcaatga aaagtagata
     2161 tagatattgt gaaaataggc tgtttaacaa acagattgga ataaagccta ttctaccagt
     2221 taaactactt taatacacat tcatttttaa agaaaatgtt tgttttaaca taaataaaca
     2281 aatcgtatca gtgtttgtga ataaaataca aaaatgattg ttaatgattg gtgctcttaa
     2341 agtgagctta aaatttatcc aagacgtata tccaaatttg tcctgtagta atagattaat
     2401 attcatagat tgttggtgtt taaagatctg aagtgtgagt agaatgtatt cagctgttta
     2461 acatgtagtt tagatattca aaagtatgca tgtagaattt aaagaatatg ttaaaaatta
     2521 ttaattttaa tattttgttt ggaaaagcat gttataatat aatgttttca ctata
//
