LOCUS       NM_006872               1618 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens general transcription factor IIA subunit 1 like
            (GTF2A1L), transcript variant 1, mRNA.
ACCESSION   NM_006872
VERSION     NM_006872.5
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 1618)
  AUTHORS   Zhang,Y., He,X.J., Song,B., Ye,L., Xie,X.S., Ruan,J., Zhou,F.S.,
            Zuo,X.B., Cao,Y.X. and Du,W.D.
  TITLE     Association of single nucleotide polymorphisms in the USF1, GTF2A1L
            and OR2W3 genes with non-obstructive azoospermia in the Chinese
            population
  JOURNAL   J Assist Reprod Genet 32 (1), 95-101 (2015)
   PUBMED   25374392
  REMARK    GeneRIF: Our results provided a new insight into susceptibility of
            USF1 variant with male infertility. rs11204546 of OR2W3 and
            rs11677854 of GTF2A1L might be additional valuable molecular
            predictive markers
REFERENCE   2  (bases 1 to 1618)
  AUTHORS   Swaminathan,S., Huentelman,M.J., Corneveaux,J.J., Myers,A.J.,
            Faber,K.M., Foroud,T., Mayeux,R., Shen,L., Kim,S., Turk,M.,
            Hardy,J., Reiman,E.M. and Saykin,A.J.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative  and  NIA-LOAD/NCRAD
            Family Study Group
  TITLE     Analysis of copy number variation in Alzheimer's disease in a
            cohort of clinically characterized and neuropathologically verified
            individuals
  JOURNAL   PLoS One 7 (12), e50640 (2012)
   PUBMED   23227193
REFERENCE   3  (bases 1 to 1618)
  AUTHORS   Chen,Z.J., Zhao,H., He,L., Shi,Y., Qin,Y., Shi,Y., Li,Z., You,L.,
            Zhao,J., Liu,J., Liang,X., Zhao,X., Zhao,J., Sun,Y., Zhang,B.,
            Jiang,H., Zhao,D., Bian,Y., Gao,X., Geng,L., Li,Y., Zhu,D., Sun,X.,
            Xu,J.E., Hao,C., Ren,C.E., Zhang,Y., Chen,S., Zhang,W., Yang,A.,
            Yan,J., Li,Y., Ma,J. and Zhao,Y.
  TITLE     Genome-wide association study identifies susceptibility loci for
            polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
  JOURNAL   Nat Genet 43 (1), 55-59 (2011)
   PUBMED   21151128
REFERENCE   4  (bases 1 to 1618)
  AUTHORS   Kim,M., Li,D., Cui,Y., Mueller,K., Chears,W.C. and DeJong,J.
  TITLE     Regulatory factor interactions and somatic silencing of the germ
            cell-specific ALF gene
  JOURNAL   J Biol Chem 281 (45), 34288-34298 (2006)
   PUBMED   16966320
REFERENCE   5  (bases 1 to 1618)
  AUTHORS   Howe,M.L., Mehmud,Z.F., Saha,S., Buratovich,M., Stutius,E.A.,
            Schmidt,H.D., Lenon,A.L., Reddicks,C., Ivanov,G.S., Przyborski,S.A.
            and Ozer,J.S.
  TITLE     Transcription Factor IIA tau is associated with undifferentiated
            cells and its gene expression is repressed in primary neurons at
            the chromatin level in vivo
  JOURNAL   Stem Cells Dev 15 (2), 175-190 (2006)
   PUBMED   16646664
  REMARK    GeneRIF: TFIIA tau is associated with undifferentiated cells during
            development, yet is down-regulated at the chromatin level upon
            cellular differentiation.
REFERENCE   6  (bases 1 to 1618)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   7  (bases 1 to 1618)
  AUTHORS   Han,S.Y., Zhou,L., Upadhyaya,A., Lee,S.H., Parker,K.L. and
            DeJong,J.
  TITLE     TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene
            whose expression is up-regulated with other general transcription
            factors during spermatogenesis in the mouse
  JOURNAL   Biol Reprod 64 (2), 507-517 (2001)
   PUBMED   11159353
REFERENCE   8  (bases 1 to 1618)
  AUTHORS   Upadhyaya,A.B., Lee,S.H. and DeJong,J.
  TITLE     Identification of a general transcription factor TFIIAalpha/beta
            homolog selectively expressed in testis
  JOURNAL   J Biol Chem 274 (25), 18040-18048 (1999)
   PUBMED   10364255
REFERENCE   9  (bases 1 to 1618)
  AUTHORS   Malik,S., Guermah,M. and Roeder,R.G.
  TITLE     A dynamic model for PC4 coactivator function in RNA polymerase II
            transcription
  JOURNAL   Proc Natl Acad Sci U S A 95 (5), 2192-2197 (1998)
   PUBMED   9482861
REFERENCE   10 (bases 1 to 1618)
  AUTHORS   Loveys,D.A., Streiff,M.B. and Kato,G.J.
  TITLE     E2A basic-helix-loop-helix transcription factors are negatively
            regulated by serum growth factors and by the Id3 protein
  JOURNAL   Nucleic Acids Res 24 (14), 2813-2820 (1996)
   PUBMED   8759016
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025991.1 and BG207854.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006872.4.
            
            Summary: The assembly and stability of the RNA polymerase II
            transcription pre-initiation complex on a eukaryotic core promoter
            involve the effects of transcription factor IIA (TFIIA) on the
            interaction between TATA-binding protein (TBP) and DNA. This gene
            encodes a germ cell-specific counterpart of the large (alpha/beta)
            subunit of general transcription factor TFIIA that is able to
            stabilize the binding of TBP to DNA and may be uniquely important
            to testis biology. Alternative splicing for this locus has been
            observed and two variants, encoding distinct isoforms, have been
            identified. Co-transcription of this gene and the neighboring
            upstream gene generates a rare transcript (SALF), which encodes a
            fusion protein comprised of sequence sharing identity with each
            individual gene product. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AK223350.1, SRR5189667.205351.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403751.8/ ENSP00000384597.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1613              BC025991.1         26-1638
            1614-1618           BG207854.1         608-612
FEATURES             Location/Qualifiers
     source          1..1618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..1618
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="general transcription factor IIA subunit 1 like"
                     /db_xref="GeneID:11036"
                     /db_xref="HGNC:HGNC:30727"
                     /db_xref="MIM:605358"
     exon            1..40
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1456
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TFIIA-alpha/beta-like factor; TFIIA-alpha and beta-like
                     factor; GTF2A1-like factor; general transcription factor
                     II A, 1-like factor; general transcription factor IIA
                     1-like; testis secretory sperm-binding protein Li 230m"
                     /codon_start=1
                     /product="TFIIA-alpha and beta-like factor isoform 1"
                     /protein_id="NP_006863.2"
                     /db_xref="CCDS:CCDS46281.1"
                     /db_xref="GeneID:11036"
                     /db_xref="HGNC:HGNC:30727"
                     /db_xref="MIM:605358"
                     /translation="MACLNPVPKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWE
                     TKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELG
                     TSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIMVTETSGRAGILQHPIQQVFQ
                     QLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRKHLENATSDIL
                     VSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGSASMAQNLHD
                     ESLSTSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRNIEEPSNIPVSEKDSNSQVDL
                     SIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFLGNIDGGDLKVPEEEADSIS
                     NEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFDTDNVIVCQYDKIHRSKNK
                     WKFYLKDGVMCFGGRDYVFAKAIGDAEW"
     exon            41..142
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            143..266
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            267..322
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            323..407
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            408..997
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1258
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1348
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1618
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1586..1591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="hexamer: AATAAA"
     regulatory      1592..1597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="hexamer: ATTATA"
     polyA_site      1608
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="major polyA site"
     polyA_site      1618
                     /gene="GTF2A1L"
                     /gene_synonym="ALF"
                     /note="major polyA site"
ORIGIN      
        1 aggtgctgga ggtgctgtca tggcctgcct caacccggtg cctaaactct acagatctgt
       61 aattgaagat gtaattgaag gagttcggaa tctatttgct gaagaaggta tagaggaaca
      121 agttttaaaa gacttgaagc agctctggga aaccaaggtt ttgcagtcta aagcaacaga
      181 agacttcttc agaaatagca tccaatcacc tctgtttact cttcagttgc cgcacagctt
      241 gcaccaaaca ttgcaatcgt caacagcatc attagttatt cctgctggta gaactcttcc
      301 aagttttacc acagcagaac tgggcacttc aaactccagt gcaaacttta cttttcctgg
      361 ttatcccatt catgtaccag caggtgtgac actacagact gtatctggtc acctttataa
      421 agtcaatgta ccaattatgg tgacagagac ttctggaaga gcaggtattc ttcagcatcc
      481 aattcagcaa gtatttcaac agcttggcca gccttcagta atacaaacta gtgttccaca
      541 attgaatcca tggtctcttc aagcaactac tgaaaaatca cagagaattg aaaccgtgct
      601 acagcaaccc gcaattctac cttctgggcc agtagatagg aaacacttag aaaatgccac
      661 cagtgatata cttgtatctc ctggaaatga gcataaaatc gtgcctgaag ctttgttgtg
      721 tcatcaggaa agttctcact atatcagtct tccaggtgtt gtattttctc cacaggtctc
      781 tcaaacaaat tctaatgtgg agtcagtgct cagtggttca gctagcatgg ctcaaaatct
      841 gcatgatgag tccctctcca caagccctca tggggctctc caccagcacg tgactgatat
      901 tcagcttcat attcttaaaa ataggatgta tggatgtgat tctgtaaagc aaccaagaaa
      961 tatagaggaa cccagcaaca tacctgtatc agagaaggat tctaattctc aggtggattt
     1021 aagcattcgg gttactgatg atgatattgg tgaaataatt caagtagatg gaagcggtga
     1081 tacatcttcc aatgaagaaa taggaagtac aagagatgca gatgagaatg aatttctagg
     1141 gaatattgac gggggagatc tgaaggtacc tgaagaagaa gctgacagta tttcaaatga
     1201 ggattcagcc acaaacagta gtgataatga agaccctcaa gtaaacattg tagaagagga
     1261 ccctttaaat tctggagatg atgttagtga acaggatgtg ccagacctgt ttgacacgga
     1321 taatgttatt gtctgtcagt atgataagat tcatcgaagc aagaacaaat ggaaattcta
     1381 tttgaaagat ggtgttatgt gttttggagg gagagactat gtatttgcaa aagccattgg
     1441 tgatgcagag tggtaaacct tgtgagctca gtacatctat tttgtgaaca tcagttggat
     1501 tatattgcat attgtgaatt catttttatt ttgaatatag tccagcacag agctgttcaa
     1561 atttttagtt cactgtatgg aatttaataa aattataatt cagatgcaga tacaatta
//
