LOCUS       NM_001143986            1977 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens TLE family member 6, subcortical maternal complex
            member (TLE6), transcript variant 1, mRNA.
ACCESSION   NM_001143986
VERSION     NM_001143986.2
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 1977)
  AUTHORS   Mao,B., Jia,X., Liu,H., Xu,X., Zhao,X., Yuan,Y., Li,H., Ma,X. and
            Zhang,L.
  TITLE     A novel TLE6 mutation, c.541+1G>A, identified using whole-exome
            sequencing in a Chinese family with female infertility
  JOURNAL   Mol Genet Genomic Med 9 (8), e1743 (2021)
   PUBMED   34264011
  REMARK    GeneRIF: A novel TLE6 mutation, c.541+1G>A, identified using
            whole-exome sequencing in a Chinese family with female infertility.
REFERENCE   2  (bases 1 to 1977)
  AUTHORS   Liu,J., Tan,Z., He,J., Jin,T., Han,Y., Hu,L. and Huang,S.
  TITLE     Two novel mutations in PADI6 and TLE6 genes cause female
            infertility due to arrest in embryonic development
  JOURNAL   J Assist Reprod Genet 38 (6), 1551-1559 (2021)
   PUBMED   34036456
  REMARK    GeneRIF: Two novel mutations in PADI6 and TLE6 genes cause female
            infertility due to arrest in embryonic development.
REFERENCE   3  (bases 1 to 1977)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1977)
  AUTHORS   Lin,J., Xu,H., Chen,B., Wang,W., Wang,L., Sun,X. and Sang,Q.
  TITLE     Expanding the genetic and phenotypic spectrum of female infertility
            caused by TLE6 mutations
  JOURNAL   J Assist Reprod Genet 37 (2), 437-442 (2020)
   PUBMED   31897846
  REMARK    GeneRIF: Expanding the genetic and phenotypic spectrum of female
            infertility caused by TLE6 mutations.
REFERENCE   5  (bases 1 to 1977)
  AUTHORS   Bebbere,D., Masala,L., Albertini,D.F. and Ledda,S.
  TITLE     The subcortical maternal complex: multiple functions for one
            biological structure?
  JOURNAL   J Assist Reprod Genet 33 (11), 1431-1438 (2016)
   PUBMED   27525657
  REMARK    Review article
REFERENCE   6  (bases 1 to 1977)
  AUTHORS   Alazami,A.M., Awad,S.M., Coskun,S., Al-Hassan,S., Hijazi,H.,
            Abdulwahab,F.M., Poizat,C. and Alkuraya,F.S.
  TITLE     TLE6 mutation causes the earliest known human embryonic lethality
  JOURNAL   Genome Biol 16, 240 (2015)
   PUBMED   26537248
  REMARK    GeneRIF: In this first report of a human defect in a member of the
            subcortical maternal subcritical maternal complex, we show that the
            TLE6 mutation is gender-specific and leads to the earliest known
            human embryonic lethality phenotype
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1977)
  AUTHORS   Zhu,K., Yan,L., Zhang,X., Lu,X., Wang,T., Yan,J., Liu,X., Qiao,J.
            and Li,L.
  TITLE     Identification of a human subcortical maternal complex
  JOURNAL   Mol Hum Reprod 21 (4), 320-329 (2015)
   PUBMED   25542835
REFERENCE   8  (bases 1 to 1977)
  AUTHORS   Verginelli,F., Perin,A., Dali,R., Fung,K.H., Lo,R., Longatti,P.,
            Guiot,M.C., Del Maestro,R.F., Rossi,S., di Porzio,U.,
            Stechishin,O., Weiss,S. and Stifani,S.
  TITLE     Transcription factors FOXG1 and Groucho/TLE promote glioblastoma
            growth
  JOURNAL   Nat Commun 4, 2956 (2013)
   PUBMED   24356439
  REMARK    GeneRIF: transcriptional programmes regulated by FOXG1 and
            Groucho/TLE are important for BTIC-initiated brain tumour growth,
            implicating FOXG1 and Groucho/TLE in GBM tumourigenesis
REFERENCE   9  (bases 1 to 1977)
  AUTHORS   Chen,P.C., Kuraguchi,M., Velasquez,J., Wang,Y., Yang,K.,
            Edwards,R., Gillen,D., Edelmann,W., Kucherlapati,R. and Lipkin,S.M.
  TITLE     Novel roles for MLH3 deficiency and TLE6-like amplification in DNA
            mismatch repair-deficient gastrointestinal tumorigenesis and
            progression
  JOURNAL   PLoS Genet 4 (6), e1000092 (2008)
   PUBMED   18551179
  REMARK    GeneRIF: Expression of Tle6-like in colon cancer cells increased
            cell proliferation, colony-formation, cell migration, and xenograft
            tumorgenicity.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1977)
  AUTHORS   Dang,J., Inukai,T., Kurosawa,H., Goi,K., Inaba,T., Lenny,N.T.,
            Downing,J.R., Stifani,S. and Look,A.T.
  TITLE     The E2A-HLF oncoprotein activates Groucho-related genes and
            suppresses Runx1
  JOURNAL   Mol Cell Biol 21 (17), 5935-5945 (2001)
   PUBMED   11486032
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB059462.1, AK024071.1 and
            BC020206.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001143986.1.
            
            Summary: This gene encodes a member of the Groucho/ transducin-like
            Enhancer of split family of transcriptional co-repressors. The
            encoded protein is a component of the mammalian subcortical
            maternal complex, which is required for preimplantation
            development. In mouse, knock out of this gene results in
            cleavage-stage embryonic arrest resulting from defective
            cytoplasmic F-actin meshwork formation and asymmetric cell
            division. In human, an allelic variant in this gene is associated
            with preimplantation embryonic lethality. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Sep
            2016].
            
            Transcript Variant: This variant (1) represents the longer variant
            and it encodes the longer protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK024071.1, SRR1163655.10870.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246112.9/ ENSP00000246112.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-134               DB059462.1         27-160
            135-1976            AK024071.1         136-1977
            1977-1977           BC020206.1         1960-1960
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1977
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /note="TLE family member 6, subcortical maternal complex
                     member"
                     /db_xref="GeneID:79816"
                     /db_xref="HGNC:HGNC:30788"
                     /db_xref="MIM:612399"
     exon            1..47
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            48..134
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1802
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transducin-like enhancer protein 6; transducin-like
                     enhancer of split 6 (E(sp1) homolog, Drosophila);
                     transducin like enhancer of split 6"
                     /codon_start=1
                     /product="transducin-like enhancer protein 6 isoform 1"
                     /protein_id="NP_001137458.1"
                     /db_xref="CCDS:CCDS45910.1"
                     /db_xref="GeneID:79816"
                     /db_xref="HGNC:HGNC:30788"
                     /db_xref="MIM:612399"
                     /translation="MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFP
                     RFSPHFAAELESIYYSLHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPA
                     SPGTPQQVKDKTLQESSFEDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLT
                     EQLWRIFAGVHDEKAKPRDRQQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSS
                     PPEGSQDRNTSWGVVQEPPGRASRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCK
                     LEKMRILAHGELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPG
                     AFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVKEQLPCAGLNCQALDANLDAN
                     LAFASFTSGVVRIWDLRDQSVVRDLKGYPDGVKSIVVKGYNIWTGGPDACLRCWDQRT
                     IMKPLEYQFKSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMVGQKDSVILSVK
                     FSPFGQWWASVGMDDFLGVYSMPAGTKVFEVPEMSPVTCCDVSSNNRLVVTGSGEHAS
                     VYQITY"
     exon            135..217
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            218..263
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            264..305
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            306..368
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            369..624
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            625..641
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            642..708
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            709..785
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            786..823
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            824..1076
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1327
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1469
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1620
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1697
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1977
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1956..1961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /note="hexamer: AATAAA"
     polyA_site      1977
                     /gene="TLE6"
                     /gene_synonym="GRG6; OZEMA15; PREMBL"
                     /note="major polyA site"
ORIGIN      
        1 agtttcctct tggcctgaac ttggctgacc tccgcagctt ccgcccgact ctggctaaag
       61 tcttggaggc tactgccttg aagatgacct ctagggacca gcccagaccc aagggccccc
      121 cgaaaagcac ttcgccttgt cctgggatct cgaactctga gagctctccg acgctgaatt
      181 atcagggcat tctaaatcgg ctcaagcagt tccccaggtt ttctcctcat tttgctgcgg
      241 agttggagag catttactac tcgctgcaca agatccagca ggatgtggca gaacatcaca
      301 agcagatagg aaacgtctta cagattgtgg agagctgcag ccaactccag ggtttccagt
      361 ctgaggaggt ctcacctgct gaaccagcca gccctgggac gccccagcag gtgaaggaca
      421 agaccctgca ggagtcgagc tttgaggaca tcatggccac caggtcctcc gactggctcc
      481 ggcggccttt gggggaggac aatcagccgg agacccagct gttctgggac aaggagcctt
      541 ggttttggca cgacactctg accgagcaac tctggcggat ttttgccggc gtccacgatg
      601 agaaggcaaa gcccagagac agacagcagg caccaggcct ggggcaggaa agcaaggcac
      661 caggatcctg tgacccagga acagacccat gtcctgaaga tgcctccacc cccaggccac
      721 ctgaggcctc ctccagtccc cctgagggtt cccaagacag gaacacaagt tggggtgtgg
      781 tccaggagcc tcctggaaga gcctctcggt ttctacagtc catatcctgg gaccctgagg
      841 actttgaaga tgcatggaag aggccagatg ccttgcccgg gcagtcaaag agactcgccg
      901 tcccgtgcaa actggaaaag atgcggatct tggcacacgg ggagctcgtg ctcgccacgg
      961 ccatcagcag cttcacgcgg cacgtgttca cctgtggcag aagaggcatc aaggtgtgga
     1021 gcctgactgg acaggtggct gaggacaggt tccctgagag ccacctgcct atacagaccc
     1081 ctggggcctt cctgcgcacc tgcctgctgt cctcaaacag caggagcctg ctcaccggtg
     1141 gctacaacct ggccagcgtg agcgtgtggg acctggcggc gccctccctg catgtgaagg
     1201 agcagttgcc ctgtgcaggt ctcaactgcc aggccctgga tgccaacctg gatgccaacc
     1261 tggccttcgc cagcttcacc agtggtgtgg tcaggatctg ggacctgcgg gatcagagtg
     1321 tggtcaggga cctcaagggt tatcctgatg gagtcaagag tatcgtggtc aagggctaca
     1381 acatctggac tgggggtccg gatgcctgtc tgcggtgctg ggaccagagg accatcatga
     1441 aacctctgga gtaccaattc aagtctcaga taatgagcct gtcccacagc ccccaggagg
     1501 actgggtgct gctgggcatg gccaatggcc agcagtggct gcaaagcacc agcgggagcc
     1561 agcggcacat ggtggggcaa aaagacagcg tcatcctgag cgtcaagttc tccccctttg
     1621 gccagtggtg ggcaagcgtt ggaatggacg acttccttgg cgtctacagc atgccggcgg
     1681 ggacaaaagt gttcgaggtg cctgagatgt ctccagtcac gtgctgtgac gtctcttcca
     1741 acaaccgcct cgttgtcaca ggctccgggg agcacgcctc cgtgtaccag atcacctact
     1801 gaggggcctc gctgctgtca tcccactccg gctcctcttt tcatcccccc ccttcccccc
     1861 ccccaacaag ggggacatgg tggagggaag cgggaaggct cttctgtggc atcgcacgat
     1921 ctagtctgtg gtgtagactg gtcgccatca cgtgtaataa agcacccggg aaaggca
//
