LOCUS       NM_004780               1200 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens transcription elongation factor A like 1 (TCEAL1),
            transcript variant 1, mRNA.
ACCESSION   NM_004780
VERSION     NM_004780.3
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 1200)
  AUTHORS   Albuainain,F., Shi,Y., Lor-Zade,S., Huffmeier,U., Pauly,M.,
            Reis,A., Faivre,L., Maraval,J., Bruel,A.L., Them,F.T.M.,
            Haack,T.B., Grasshoff,U., Horber,V., Schot,R., van Slegtenhorst,M.,
            Wilke,M. and Barakat,T.S.
  TITLE     Confirmation and expansion of the phenotype of the TCEAL1-related
            neurodevelopmental disorder
  JOURNAL   Eur J Hum Genet 32 (3), 350-356 (2024)
   PUBMED   38200082
  REMARK    GeneRIF: Confirmation and expansion of the phenotype of the
            TCEAL1-related neurodevelopmental disorder.
REFERENCE   2  (bases 1 to 1200)
  AUTHORS   Hijazi,H., Reis,L.M., Pehlivan,D., Bernstein,J.A., Muriello,M.,
            Syverson,E., Bonner,D., Estiar,M.A., Gan-Or,Z., Rouleau,G.A.,
            Lyulcheva,E., Greenhalgh,L., Tessarech,M., Colin,E., Guichet,A.,
            Bonneau,D., van Jaarsveld,R.H., Lachmeijer,A.M.A., Ruaud,L.,
            Levy,J., Tabet,A.C., Ploski,R., Rydzanicz,M., Kepczynski,L.,
            Polatynska,K., Li,Y., Fatih,J.M., Marafi,D., Rosenfeld,J.A.,
            Coban-Akdemir,Z., Bi,W., Gibbs,R.A., Hobson,G.M., Hunter,J.V.,
            Carvalho,C.M.B., Posey,J.E., Semina,E.V. and Lupski,J.R.
  TITLE     TCEAL1 loss-of-function results in an X-linked dominant
            neurodevelopmental syndrome and drives the neurological disease
            trait in Xq22.2 deletions
  JOURNAL   Am J Hum Genet 109 (12), 2270-2282 (2022)
   PUBMED   36368327
  REMARK    GeneRIF: TCEAL1 loss-of-function results in an X-linked dominant
            neurodevelopmental syndrome and drives the neurological disease
            trait in Xq22.2 deletions.
REFERENCE   3  (bases 1 to 1200)
  AUTHORS   Rushworth,L.K., Harle,V., Repiscak,P., Clark,W., Shaw,R., Hall,H.,
            Bushell,M., Leung,H.Y. and Patel,R.
  TITLE     In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances
            docetaxel efficacy in prostate cancer
  JOURNAL   Life Sci Alliance 3 (12), e202000770 (2020)
   PUBMED   33033111
  REMARK    GeneRIF: In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing
            enhances docetaxel efficacy in prostate cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1200)
  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 1200)
  AUTHORS   Kizildag,S., Ates,H. and Kizildag,S.
  TITLE     Treatment of K562 cells with 1,25-dihydroxyvitamin D3 induces
            distinct alterations in the expression of apoptosis-related genes
            BCL2, BAX, BCLXL, and p21
  JOURNAL   Ann Hematol 89 (1), 1-7 (2010)
   PUBMED   19475409
  REMARK    GeneRIF: Treatment with active matabolite of vitamin D
            (1alpha,25-dihydroxyvitamin D3) up-regulates mRNA expression of
            p21.
REFERENCE   6  (bases 1 to 1200)
  AUTHORS   van der Kuip,H., Carius,B., Haque,S.J., Williams,B.R., Huber,C. and
            Fischer,T.
  TITLE     The DNA-binding subunit p140 of replication factor C is upregulated
            in cycling cells and associates with G1 phase cell cycle regulatory
            proteins
  JOURNAL   J Mol Med (Berl) 77 (4), 386-392 (1999)
   PUBMED   10353443
REFERENCE   7  (bases 1 to 1200)
  AUTHORS   Pillutla,R.C., Shimamoto,A., Furuichi,Y. and Shatkin,A.J.
  TITLE     Genomic structure and chromosomal localization of TCEAL1, a human
            gene encoding the nuclear phosphoprotein p21/SIIR
  JOURNAL   Genomics 56 (2), 217-220 (1999)
   PUBMED   10051408
REFERENCE   8  (bases 1 to 1200)
  AUTHORS   Yeh,C.H., Zong,W.X. and Shatkin,A.J.
  TITLE     The Ser36-Ser37 pair in HeLa nuclear protein p21/SIIR mediates
            Ser/Thr phosphorylation and is essential for Rous sarcoma virus
            long terminal repeat repression
  JOURNAL   J Biol Chem 270 (43), 25313-25315 (1995)
   PUBMED   7592688
REFERENCE   9  (bases 1 to 1200)
  AUTHORS   Yeh,C.H. and Shatkin,A.J.
  TITLE     Down-regulation of Rous sarcoma virus long terminal repeat promoter
            activity by a HeLa cell basic protein
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 11002-11006 (1994)
   PUBMED   7971997
REFERENCE   10 (bases 1 to 1200)
  AUTHORS   Yeh,C.H. and Shatkin,A.J.
  TITLE     A HeLa-cell-encoded p21 is homologous to transcription elongation
            factor SII
  JOURNAL   Gene 143 (2), 285-287 (1994)
   PUBMED   8206389
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB053221.1, CF454849.1 and
            BC000809.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004780.2.
            
            Summary: This gene encodes a member of the transcription elongation
            factor A (SII)-like (TCEAL) gene family. Members of this family may
            function as nuclear phosphoproteins that modulate transcription in
            a promoter context-dependent manner. The encoded protein is similar
            to transcription elongation factor A/transcription factor SII and
            contains a zinc finger-like motif as well as a sequence related to
            the transcription factor SII Pol II-binding region. It may exert
            its effects via protein-protein interactions with other
            transcriptional regulators rather than via direct binding of DNA.
            Multiple family members are located on the X chromosome.
            Alternative splicing results in multiple transcript variants
            encoding a single isoform. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the complete protein.
            Variants 1 through 3 encode the same isoform.
            
            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 :: SRR5189667.206757.1,
                                           SRR1163657.399554.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372625.8/ ENSP00000361708.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                CB053221.1         63-113
            52-131              CF454849.1         39-118
            132-523             CB053221.1         182-573
            524-1200            BC000809.1         488-1164
FEATURES             Location/Qualifiers
     source          1..1200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..1200
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /note="transcription elongation factor A like 1"
                     /db_xref="GeneID:9338"
                     /db_xref="HGNC:HGNC:11616"
                     /db_xref="MIM:300237"
     exon            1..51
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /inference="alignment:Splign:2.1.0"
     exon            52..131
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /inference="alignment:Splign:2.1.0"
     exon            132..1200
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..643
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /note="TCEA-like protein 1; nuclear phosphoprotein
                     p21/SIIR; transcription elongation factor S-II
                     protein-like 1; transcription elongation factor A
                     (SII)-like 1"
                     /codon_start=1
                     /product="transcription elongation factor A protein-like
                     1"
                     /protein_id="NP_004771.2"
                     /db_xref="CCDS:CCDS35358.1"
                     /db_xref="GeneID:9338"
                     /db_xref="HGNC:HGNC:11616"
                     /db_xref="MIM:300237"
                     /translation="MDKPRKENEEEPQSAPKTDEERPPVEHSPEKQSPEEQSSEEQSS
                     EEEFFPEELLPELLPEMLLSEERPPQEGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSF
                     KERLARSRPQFRGDIHGRNLSNEEMIQAADELEEMKRVRNKLMIMHWKAKRSRPYPI"
     regulatory      1172..1177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /note="hexamer: AATAAA"
     polyA_site      1200
                     /gene="TCEAL1"
                     /gene_synonym="HIJRS; NEDGFAX; p21; pp21; SIIR; WEX9"
                     /note="major polyA site"
ORIGIN      
        1 cctgtccacc atctccctat taccctttgg tcgagaggga aagcagaaga agtctgctgg
       61 tcacagcggg gcacctcgag gagaggacga ctaggagcac acggcccgga aaggtccagg
      121 tcagggaagg gaataactgt gcttgaagaa gaaaattccc aacatggaca aaccacgcaa
      181 agaaaatgaa gaagagccgc agagcgcgcc caagaccgat gaggagaggc ctccggtgga
      241 gcactctccc gaaaagcagt cccccgagga gcagtcttcg gaggagcagt cctcggagga
      301 ggagttcttt cctgaggagc tcttgcctga gctcctgcct gagatgctcc tctcggagga
      361 gcgccctccg caggagggtc tttccaggaa ggacctgttt gaggggcgcc ctcccatgga
      421 gcagcctcct tgtggagtag gaaaacataa gcttgaagaa ggaagcttta aagaaaggtt
      481 ggctcgttct cgcccgcaat ttagagggga catacatggc agaaatttaa gcaatgagga
      541 gatgatacag gcagcagatg agctagaaga gatgaaaaga gtaagaaaca aactgatgat
      601 aatgcactgg aaggcaaaac ggagccgtcc ttatcctatt taatgtgttc ggcctttaat
      661 tctgttttgc ctgctaatag tattgccatt gccacctgga ctttctgttt gcattttctt
      721 aatgcctttt cccatattct gaattttaac tttttgtgag gctttatttt agatgtttag
      781 catgtaactc gcttaaagtt gaggtttccc cctaaaatct acaagtttcc ctctttcagt
      841 catgagccct acacatttgc atgaaagatg tacattatat attgtgaaac gaaaaaagca
      901 attttcaaat ggtatatatt gtatcccatt tttgtaaaaa aaatgtatat ttatatatta
      961 atatgcaaag aaaaagctaa aagtatagac ttcaaaggca taacagtggt tgtgtggtaa
     1021 gataataggt gattttttaa atttttgttt tatctgaatt tctcattttt tcaggacaaa
     1081 cgttttactt gtgttgcaaa aatatataat gaaaaaatca cacaattttg aagaaaactg
     1141 tcaatcagct tataacgaca atgtggcact taataaatac ttgtcagaac tttaaaaaaa
//
