LOCUS       NM_001137601            3612 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens zinc finger and BTB domain containing 42 (ZBTB42),
            transcript variant 1, mRNA.
ACCESSION   NM_001137601 XM_001717198 XR_042289 XR_042430 XR_042458
VERSION     NM_001137601.3
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 3612)
  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   2  (bases 1 to 3612)
  AUTHORS   Patel,N., Smith,L.L., Faqeih,E., Mohamed,J., Gupta,V.A. and
            Alkuraya,F.S.
  TITLE     ZBTB42 mutation defines a novel lethal congenital contracture
            syndrome (LCCS6)
  JOURNAL   Hum Mol Genet 23 (24), 6584-6593 (2014)
   PUBMED   25055871
  REMARK    GeneRIF: ZBTB42 mutation defines a novel lethal congenital
            contracture syndrome.
REFERENCE   3  (bases 1 to 3612)
  AUTHORS   Devaney,S.A., Mate,S.E., Devaney,J.M. and Hoffman,E.P.
  TITLE     Characterization of the ZBTB42 gene in humans and mice
  JOURNAL   Hum Genet 129 (4), 433-441 (2011)
   PUBMED   21193930
  REMARK    GeneRIF: Data show that ZBTB42 protein is expressed in human
            skeletal muscle and a murine cell line C2C12 myotubes.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590327.3, BC157833.1,
            AK125003.1 and AL138144.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001137601.2.
            
            Summary: The protein encoded by this gene is a member of the C2H2
            zinc finger protein family. This protein is predicted to have a pox
            virus and zinc finger (POZ) domain at the N-terminus and four zinc
            finger domains at the C-terminus. In human and mouse, the protein
            localizes to the nuclei of skeletal muscle cells. Knockdown of this
            gene in zebrafish results in abnormal skeletal muscle development
            and myofibrillar disorganization. A novel homozygous variant of the
            human gene has been associated with lethal congenital contracture
            syndrome, an autosomal recessive disorder that results in muscle
            wasting. [provided by RefSeq, Mar 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC171822.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342537.8/ ENSP00000409107.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-80                AL590327.3         22959-23038         c
            81-141              BC157833.1         11-71
            142-142             AL590327.3         22897-22897         c
            143-790             BC157833.1         73-720
            791-791             AL590327.3         22248-22248         c
            792-1461            BC157833.1         722-1391
            1462-1981           AK125003.1         498-1017
            1982-1983           AL590327.3         21056-21057         c
            1984-2341           AK125003.1         1021-1378
            2342-2342           AL590327.3         20697-20697         c
            2343-2545           AK125003.1         1380-1582
            2546-2546           AL590327.3         20493-20493         c
            2547-2840           AK125003.1         1584-1877
            2841-2841           AL590327.3         20198-20198         c
            2842-3047           AK125003.1         1879-2084
            3048-3075           AL590327.3         19964-19991         c
            3076-3289           AK125003.1         2115-2328
            3290-3290           AL590327.3         19749-19749         c
            3291-3339           AL138144.1         295-343             c
            3340-3340           AL590327.3         19699-19699         c
            3341-3612           AL138144.1         23-294              c
FEATURES             Location/Qualifiers
     source          1..3612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..3612
                     /gene="ZBTB42"
                     /gene_synonym="LCCS6; ZNF925"
                     /note="zinc finger and BTB domain containing 42"
                     /db_xref="GeneID:100128927"
                     /db_xref="HGNC:HGNC:32550"
                     /db_xref="MIM:613915"
     exon            1..3612
                     /gene="ZBTB42"
                     /gene_synonym="LCCS6; ZNF925"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1366
                     /gene="ZBTB42"
                     /gene_synonym="LCCS6; ZNF925"
                     /codon_start=1
                     /product="zinc finger and BTB domain-containing protein
                     42"
                     /protein_id="NP_001131073.1"
                     /db_xref="CCDS:CCDS45174.1"
                     /db_xref="GeneID:100128927"
                     /db_xref="HGNC:HGNC:32550"
                     /db_xref="MIM:613915"
                     /translation="MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAA
                     CSVYFHLFYRDRPAGSRDTVRLNGDIVTAPAFGRLLDFMYEGRLDLRSLPVEDVLAAA
                     SYLHMYDIVKVCKGRLQEKDRSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLP
                     PFGVKAALPPRASGPPPCQVPEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPG
                     AQPLVKDERDSLSEQEESSSSRSPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELEL
                     GAGRLASEDELGPGGPLCICPLCSKLFPSSHVLQLHLSAHFRERDSTRARLSPDGVAP
                     TCPLCGKTFSCTYTLKRHERTHSGEKPYTCVQCGKSFQYSHNLSRHTVVHTREKPHAC
                     RWCERRFTQSGDLYRHVRKFHCGLVKSLLV"
     regulatory      3589..3594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZBTB42"
                     /gene_synonym="LCCS6; ZNF925"
                     /note="hexamer: AATAAA"
     polyA_site      3612
                     /gene="ZBTB42"
                     /gene_synonym="LCCS6; ZNF925"
                     /note="major polyA site"
ORIGIN      
        1 ctttccgcgc tgcctgcagc cgggaagggc gcttcgtggg cgcctccagg cgcgctgacg
       61 ggcgtcccgt ttgtgcccag gtgatgacgg cggcggcatg gagttccctg agcacggcgg
      121 acggctgctg ggccgcctga gacagcagcg cgagctgggc ttcctatgcg actgcaccgt
      181 gctggtgggc gacgcgcgct tcccggccca ccgtgccgtg ctggccgcgt gcagcgtcta
      241 cttccatctc ttctacaggg accggcccgc gggcagtcgc gacacggtgc ggctcaacgg
      301 cgacatcgtc acggcgcccg ccttcggccg cctactggac ttcatgtacg agggccgcct
      361 ggacctgcgc agcctgcctg tggaggacgt cctggcagcc gccagctacc tgcacatgta
      421 tgacatcgtc aaggtctgca agggcaggct ccaggagaag gatcgaagtc tggacccggg
      481 gaaccctgcc cctggggcag aacctgctca gccaccgtgc ccctggcctg tctggaccgc
      541 ggacctctgc ccagctgccc gaaaggccaa gctccccccg tttggggtca aggctgccct
      601 ccctcctcga gcatctgggc ctcctccctg ccaggtccca gaagagtcag accaggccct
      661 ggacctgtcg ttgaagtctg gcccaaggca ggagcgggtc cacccaccgt gcgtcctcca
      721 gacacccctc tgcagccaga ggcagccagg ggcccagcca ctggtgaagg acgaacggga
      781 ctcactgtcc gaacaggagg agagcagcag ctctaggagc ccccacagtc ccccgaagcc
      841 acctcctgtt cctgcagcca agggcctggt ggtgggcttg cagccgctgc ccctcagcgg
      901 agagggcagc cgggagctgg agcttggtgc agggcgactg gcgagtgagg acgagctggg
      961 gcctggtggg cccctctgca tctgcccgtt gtgcagcaag ctgtttccca gctcccacgt
     1021 gctgcagctg cacctcagtg cccacttccg tgagcgagac agcacccggg cccggctctc
     1081 acccgacggc gtggcaccca cctgcccgct ctgtgggaag accttctcgt gcacatacac
     1141 actgaagagg cacgagcgga cacactcggg tgagaagccc tatacgtgtg tgcagtgtgg
     1201 caaaagtttt cagtactccc acaacctgag ccggcacacc gtagtgcaca ctcgagagaa
     1261 gccgcatgcc tgccggtggt gtgagcgccg tttcacgcag tccggggacc tctaccgcca
     1321 cgtccgcaag tttcactgtg gcctcgtcaa gtcccttctg gtgtgatgca tccctgtggg
     1381 tcctgagggt ggggtggaag ggaagggatg ggccctccca ggtgggacac agcatggggt
     1441 gtgaagcctg accaggtgga ggtccctgct tgggccagat ggctccaccc tcctggcaga
     1501 gagaatgctg cctcttcctg gaacttggcc tcagactcgg taacttgggc agccttcctc
     1561 ccaccttgcc tctcctttcc cctcactctc caactcattc cggcccccag gctgtgccct
     1621 gcctaggctg tgacactatc ttcctctccc gtcccctcca gccaagttct gaggggtgtc
     1681 caaccagcac ctggctctgc ccccgtttct ccgtgtgaga tggcacatcc atctcccggc
     1741 ccgggacttt cctgaccacc tctctggcag gcttggggag gtcttcatga gcctggcccc
     1801 acgctaggtg aattattcac atgtcagaaa agttgttggt gtgcgtccca atggggcgct
     1861 gggagggaac aggacactcc tggggagcgg cagcaggaac ccctgccagg aaggcctggg
     1921 gcacagtgag tgccagcagg ggccatctgg gcacagctgg tgtctcgggg tggggggggg
     1981 ggtgcagccc cagcagggat cctaaggcag caggagtaga gccagctaga agctgagtgg
     2041 ctgtggcatc attgtcactc gggtgggacg tgggtccatg agagcgtgca attatgacca
     2101 cactgtaact ttgagcagag aaagtgggaa tttggaactg gattctcttt agagccagga
     2161 agagcctcct gaggcggcca gatgtctgct ggtggccgcc cagccacatg cttgtctgcc
     2221 tgagtgcagg tctaggaagc ctctgggcat cccccagggt ggggtctggg ccgctgagct
     2281 gtgtgctgct gctgggccac cgtgggcctt accttgacgg tcactctgcc tgctaggggg
     2341 tttccctgga gctgtgggca tttccgtgca ctgactgagc agaggcaagg gctgccctgt
     2401 ccgccagggg cagggtttgc gggccttcct ttccccacgg cgaggcatgg gtgaaagtgg
     2461 ccatggcggc agggttaggg gcaggtgagg agtgggagtc gcagcaccct aggggcctcc
     2521 atccgcagcc ttgggagact gacgctcctc gaacatgaat agaatgtgga gaccacaacc
     2581 cccacacatg tcgttggttc aggtcgccct gctttgcctg cctaatggag cacatcttgc
     2641 tgccagaacc tcactggcct ctgggggtcg gcaggtgcag agccacctgg acgcctggag
     2701 accacctggg atgtttcctc tgtgactggg aatggccttg acaacagagt ccagccaagt
     2761 ctacgttatt ttctcatctc ctgacaacac tggatgtcat atttattagt cagcctggtc
     2821 tggagtgaaa gaccgtccct agcgcatctc ccacgcgccc tgggctcctg gtgtgctggg
     2881 tgccagcctg ggagcccagc gcttctgggt gatgccccag ggctcagagg ccctggatgg
     2941 ctttggtctc gagacagctg ggggaggggc cctgcttctg attgtcctgg gccccagccc
     3001 ccacctctgc aagggatcgg tgtgatgtgc tccataatcg ggtggggggt gtgtgtgtgt
     3061 gtgtgtgtgt gtgtatgtat gcatgcgtct ggcacatggc aaggcccaag ccaacccggc
     3121 accccgtaga tgggcagcta cactgccacc caagcacgga gatgtggccg cggcactggg
     3181 tcccccagtg ggtcccatgg gggaagaact tccctttgct ggggtgggca gcctgccctg
     3241 agctatcaac actggatttg ttgtcttctg cacagctact gtgaagataa cgtaaggaga
     3301 agtggtcagt tttcatttta taactgacac agttgggaca aaatatatac gtgtacatat
     3361 atttaagaca ctaattgtgt gggagagttt agtagaggcc tgtgcagaca caaggcaaac
     3421 agcgtcagca gcgtgggggt ctcctgggcc agctcggcac ctgtgggtgc tctgaccctg
     3481 ggggtgggga cagctccgtg ctaaccccag cagacagttg ttggtgcaca gtgtctagga
     3541 ggcgtgggaa tgggtgctgt cttcctcttt tcacatcatg gcgacagtaa taaagcccac
     3601 ctccagtgga aa
//
