LOCUS       NM_001168474            2180 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens TATA-box binding protein associated factor 7 like
            (TAF7L), transcript variant 2, mRNA.
ACCESSION   NM_001168474
VERSION     NM_001168474.2
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 2180)
  AUTHORS   Bai,H., Sha,Y., Tan,Y., Li,P., Zhang,Y., Xu,J., Xu,S., Ji,Z.,
            Wang,X., Chen,W., Zhang,J., Yao,C., Li,Z. and Zhi,E.
  TITLE     Deleterious variants in TAF7L cause human
            oligoasthenoteratozoospermia and its impairing histone to protamine
            exchange inducing reduced in vitro fertilization
  JOURNAL   Front Endocrinol (Lausanne) 13, 1099270 (2023)
   PUBMED   36714566
  REMARK    GeneRIF: Deleterious variants in TAF7L cause human
            oligoasthenoteratozoospermia and its impairing histone to protamine
            exchange inducing reduced in vitro fertilization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2180)
  AUTHORS   Ambulkar,P.S., Waghmare,J.E., Verma Shivkumar,P., Chaudhari,A.R.,
            Gangane,N.M., Narang,P. and Pal,A.K.
  TITLE     The association of testis-specific hTAF7L gene variants with
            idiopathic azoospermic and severe oligozoospermic male infertility
  JOURNAL   Andrologia 54 (11), e14581 (2022)
   PUBMED   36068176
  REMARK    GeneRIF: The association of testis-specific hTAF7L gene variants
            with idiopathic azoospermic and severe oligozoospermic male
            infertility.
REFERENCE   3  (bases 1 to 2180)
  AUTHORS   Ling,L., Li,F., Yang,P., Oates,R.D., Silber,S., Kurischko,C.,
            Luca,F.C., Leu,N.A., Zhang,J., Yue,Q., Skaletsky,H., Brown,L.G.,
            Rozen,S.G., Page,D.C., Wang,P.J. and Zheng,K.
  TITLE     Genetic characterization of a missense mutation in the X-linked
            TAF7L gene identified in an oligozoospermic mandagger
  JOURNAL   Biol Reprod 107 (1), 157-167 (2022)
   PUBMED   35554494
  REMARK    GeneRIF: Identification of a missense mutation (D136G) in the
            X-linked TAF7L gene as a potential cause of oligozoospermia in men.
REFERENCE   4  (bases 1 to 2180)
  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   5  (bases 1 to 2180)
  AUTHORS   Shaker,M., Lorigiano,T.J., Lucas,A., Devitskiy,S., Chen,Y. and
            Christensen,B.
  TITLE     An X-linked agammaglobulinemia contiguous gene syndrome with
            metachronous coprimary testicular cancers
  JOURNAL   Ann Allergy Asthma Immunol 120 (2), 215-217 (2018)
   PUBMED   29307603
  REMARK    GeneRIF: these findings support a putative role of TAF7L in tumor
            suppression
REFERENCE   6  (bases 1 to 2180)
  AUTHORS   Yazarloo,F., Shirkoohi,R., Mobasheri,M.B., Emami,A. and
            Modarressi,M.H.
  TITLE     Expression analysis of four testis-specific genes AURKC, OIP5,
            PIWIL2 and TAF7L in acute myeloid leukemia: a gender-dependent
            expression pattern
  JOURNAL   Med Oncol 30 (1), 368 (2013)
   PUBMED   23292864
  REMARK    GeneRIF: expression of AURKC, OIP5, PIWIL2 and TAF7L differed
            between patients with Acute myeloid leukemia, myelodysplastic
            syndrome and healthy controls in a gender-dependent manner
REFERENCE   7  (bases 1 to 2180)
  AUTHORS   Akinloye,O., Gromoll,J., Callies,C., Nieschlag,E. and Simoni,M.
  TITLE     Mutation analysis of the X-chromosome linked, testis-specific TAF7L
            gene in spermatogenic failure
  JOURNAL   Andrologia 39 (5), 190-195 (2007)
   PUBMED   17714218
  REMARK    GeneRIF: The sequence variant in exon 13 of the TAF7L gene located
            on the X chromosome may represent a risk factor for spermatogenic
            failure.
REFERENCE   8  (bases 1 to 2180)
  AUTHORS   Stouffs,K., Willems,A., Lissens,W., Tournaye,H., Van Steirteghem,A.
            and Liebaers,I.
  TITLE     The role of the testis-specific gene hTAF7L in the aetiology of
            male infertility
  JOURNAL   Mol Hum Reprod 12 (4), 263-267 (2006)
   PUBMED   16597641
  REMARK    GeneRIF: TAF7L gene polymorphisms were found in male infertility
            patients and normal controls.
REFERENCE   9  (bases 1 to 2180)
  AUTHORS   Pointud,J.C., Mengus,G., Brancorsini,S., Monaco,L., Parvinen,M.,
            Sassone-Corsi,P. and Davidson,I.
  TITLE     The intracellular localisation of TAF7L, a paralogue of
            transcription factor TFIID subunit TAF7, is developmentally
            regulated during male germ-cell differentiation
  JOURNAL   J Cell Sci 116 (Pt 9), 1847-1858 (2003)
   PUBMED   12665565
REFERENCE   10 (bases 1 to 2180)
  AUTHORS   Wang,P.J., McCarrey,J.R., Yang,F. and Page,D.C.
  TITLE     An abundance of X-linked genes expressed in spermatogonia
  JOURNAL   Nat Genet 27 (4), 422-426 (2001)
   PUBMED   11279525
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF285595.1 and BC043391.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001168474.1.
            
            Summary: This gene is similar to a mouse gene that encodes a TATA
            box binding protein-associated factor, and shows testis-specific
            expression. The encoded protein could be a spermatogenesis-specific
            component of the DNA-binding general transcription factor complex
            TFIID. Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) has a shorter 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 :: AF285595.1, ERR4643895.40932.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356784.2/ ENSP00000349235.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-901               AF285595.1         6-906
            902-2180            BC043391.1         1059-2337
FEATURES             Location/Qualifiers
     source          1..2180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..2180
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /note="TATA-box binding protein associated factor 7 like"
                     /db_xref="GeneID:54457"
                     /db_xref="HGNC:HGNC:11548"
                     /db_xref="MIM:300314"
     exon            1..111
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            112..179
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1244
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cancer/testis antigen 40; TBP-associated factor, RNA
                     polymerase II, Q; RNA polymerase II TBP-associated factor
                     subunit Q; TATA box-binding protein-associated factor 50
                     kDa; TAF7-like RNA polymerase II, TATA box binding protein
                     (TBP)-associated factor, 50kDa; transcription initiation
                     factor TFIID 50 kDa subunit"
                     /codon_start=1
                     /product="transcription initiation factor TFIID subunit
                     7-like isoform 2"
                     /protein_id="NP_001161946.1"
                     /db_xref="CCDS:CCDS55466.1"
                     /db_xref="GeneID:54457"
                     /db_xref="HGNC:HGNC:11548"
                     /db_xref="MIM:300314"
                     /translation="MSESQDEVPDEVENQFILRLPLEHACTVRNLARSQSVKMKDKLK
                     IDLLPDGRHAVVEVEDVPLAAKLVDLPCVIESLRTLDKKTFYKTADISQMLVCTADGD
                     IHLSPEEPAASTDPNIVRKKERGREEKCVWKHGITPPLKNVRKKRFRKTQKKVPDVKE
                     MEKSSFTEYIESPDVENEVKRLLRSDAEAVSTRWEVIAEDGTKEIESQGSIPGFLISS
                     GMSSHKQGHTSSEYDMLREMFSDSRSNNDDDEDEDDEDEDEDEDEDEDEDKEEEEEDC
                     SEEYLERQLQAEFIESGQYRANEGTSSIVMEIQKQIEKKEKKLHKIQNKAQRQKDLIM
                     KVENLTLKNHFQSVLEQLELQEKQKNEKLISLQEQLQRFLKK"
     exon            180..258
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            259..392
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            393..519
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            520..575
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            576..617
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            618..690
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            691..804
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            805..1026
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1139
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1199
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..2180
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2161..2166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /note="hexamer: AATAAA"
     polyA_site      2180
                     /gene="TAF7L"
                     /gene_synonym="CT40; TAF2Q"
                     /note="major polyA site"
ORIGIN      
        1 gttcgcctct acgttccgcg cgggagccca cgcgcggttc gtccggaacc cacagaccag
       61 agacgcaggt cccagccttt tcggtgtcgg cgccagttcc cggaggagcg gacatgagtg
      121 aaagccagga tgaagttcct gatgaagttg agaaccagtt tatattgcgt ctgcctctgg
      181 aacatgcttg tactgtcagg aacctagcac gttctcaaag tgtcaagatg aaggataaac
      241 taaaaattga cttattgcct gatgggcgcc atgcagttgt tgaagtagaa gatgtcccac
      301 tagctgctaa gctggttgac ttgccttgtg ttattgaaag cctgagaacg cttgataaaa
      361 aaacctttta taaaacagca gacatttctc agatgcttgt gtgcactgct gatggtgata
      421 tccacctttc tccagaagaa ccagctgcct ctactgatcc taatatagtc aggaaaaaag
      481 aaagggggag agaagaaaaa tgtgtctgga agcatggcat tacgccacca cttaagaatg
      541 tcagaaagaa aaggttccgg aaaacacaaa aaaaggtccc tgatgtcaaa gaaatggaaa
      601 aaagcagctt tactgagtac attgaatctc cagacgtgga aaatgaagta aagagactgc
      661 tgcgttcgga tgctgaagcc gtaagtaccc gttgggaagt cattgctgaa gatggaacca
      721 aggaaataga aagtcaaggc tccatcccag gatttttgat atcctcggga atgagcagcc
      781 acaagcaggg tcatacctcg tcagaatatg atatgcttcg ggagatgttc agtgattcta
      841 gaagtaacaa tgatgatgat gaggatgagg atgatgaaga tgaggatgag gatgaggatg
      901 aggatgaaga tgaagacaaa gaagaggagg aggaagattg ttctgaagag tatctggaaa
      961 ggcagctgca ggccgagttt attgaatctg gccagtatag ggcaaatgaa ggtaccagtt
     1021 caatagtcat ggaaattcag aagcagattg agaaaaagga gaaaaagctc cataagattc
     1081 agaataaagc acaaagacag aaggatctca tcatgaaagt ggaaaacctg acactcaaga
     1141 atcattttca gtctgtgctg gagcagcttg agttacagga aaaacaaaaa aatgagaagc
     1201 tcatttccct acaggaacag ttgcagcgtt ttctgaagaa gtgaggagag ccattggcgt
     1261 ggcccacaaa ccttggattc accatccaga ctgcagattg gatgaaactg tgcacgtttt
     1321 tgtcccttca gttgccttat gttgaatcag ttatatttat ctgtaccttc tttgctactt
     1381 aaaatatgct cacagtttgt agtcatgtag aaaaggccag tataaaaatg tagtagactt
     1441 aaagacccca ctcgaccatg agactttctc tttgtcaatt tgggaattat tattattaat
     1501 ttagaaatgg ggtcttgtta tgttgcccag gctgaattca gactcctggg cttaagggat
     1561 ccttccgcct cagcctcctg agtagctggg actacagttg tgcaccacca caccaaacaa
     1621 gaattgatta tattgcttct gtgctatggt accagcagat tattcagcca tgcttctaaa
     1681 ggcagtctag cctagaggcc gtacagctgt ttggtttgca tatgttttag cttttctttt
     1741 ggtttttagt atttcctaaa acatagggga aaaaacgagg tcatttctac taagcactag
     1801 gacctgccat agtgagttta agtgcctacc ttgcagcagt taatactaga ttgtgttctg
     1861 tctctgttca ggtaacagga ctgcattcct gctcaaggat gattccttgc tgctgcttat
     1921 gttctgttgt ttttaggatg gagctggttg ttattcacca actaagggaa cagttagagc
     1981 agagatgaag aaattatgaa ctgttatcct tattctgagc cttctcctcc taaccctcat
     2041 cagttaaggt taggaagaac aagatgccat aatgcctatg aagacttctt taacaatctt
     2101 gtttgggttt ttttctaggt atattattag tgttttatgg tctatgttct ttaagcaata
     2161 aataaattgt tcattttaaa
//
