LOCUS       NM_173798               2197 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens zinc finger CCHC-type containing 12 (ZCCHC12),
            transcript variant 1, mRNA.
ACCESSION   NM_173798
VERSION     NM_173798.4
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 2197)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2197)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2197)
  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 2197)
  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 2197)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2197)
  AUTHORS   Cho,G., Lim,Y. and Golden,J.A.
  TITLE     XLMR candidate mouse gene, Zcchc12 (Sizn1) is a novel marker of
            Cajal-Retzius cells
  JOURNAL   Gene Expr Patterns 11 (3-4), 216-220 (2011)
   PUBMED   21172456
REFERENCE   7  (bases 1 to 2197)
  AUTHORS   Cho,G., Lim,Y. and Golden,J.A.
  TITLE     SUMO interaction motifs in Sizn1 are required for promyelocytic
            leukemia protein nuclear body localization and for transcriptional
            activation
  JOURNAL   J Biol Chem 284 (29), 19592-19600 (2009)
   PUBMED   19416967
  REMARK    GeneRIF: Data indicate that the SIMs in Sizn1 are required for its
            PML-NB localization and for the full transcriptional co-activation
            function in BMP signaling.
REFERENCE   8  (bases 1 to 2197)
  AUTHORS   Li,H., Liu,Q., Hu,X., Feng,D., Xiang,S., He,Z., Hu,X., Zhou,J.,
            Ding,X., Zhou,C. and Zhang,J.
  TITLE     Human ZCCHC12 activates AP-1 and CREB signaling as a
            transcriptional co-activator
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 41 (7), 535-544 (2009)
   PUBMED   19578717
  REMARK    GeneRIF: ZCCHC12 enhanced the transcriptional activities of
            activator protein 1 (AP-1) and cAMP response element binding
            protein (CREB) as a coactivator
REFERENCE   9  (bases 1 to 2197)
  AUTHORS   Cho,G., Bhat,S.S., Gao,J., Collins,J.S., Rogers,R.C.,
            Simensen,R.J., Schwartz,C.E., Golden,J.A. and Srivastava,A.K.
  TITLE     Evidence that SIZN1 is a candidate X-linked mental retardation gene
  JOURNAL   Am J Med Genet A 146A (20), 2644-2650 (2008)
   PUBMED   18798319
  REMARK    GeneRIF: data implicate SIZN1 as a candidate gene for X-linked
            mental retardation and/or as a neurocognitive functional modifier
REFERENCE   10 (bases 1 to 2197)
  AUTHORS   Cho,G., Lim,Y., Zand,D. and Golden,J.A.
  TITLE     Sizn1 is a novel protein that functions as a transcriptional
            coactivator of bone morphogenic protein signaling
  JOURNAL   Mol Cell Biol 28 (5), 1565-1572 (2008)
   PUBMED   18160706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122676.1 and AW002115.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_173798.3.
            
            Summary: This gene encodes a downstream effector of bone
            morphogenetic protein (BMP) signalling. This protein contains a
            zinc finger domain and functions as a transcriptional coactivator.
            Variation in this gene may be associated with X-linked cognitive
            disability. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: BC031241.1, BC036572.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310164.3/ ENSP00000308921.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2196              AK122676.1         42-2237
            2197-2197           AW002115.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..2197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..2197
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /note="zinc finger CCHC-type containing 12"
                     /db_xref="GeneID:170261"
                     /db_xref="HGNC:HGNC:27273"
                     /db_xref="MIM:300701"
     exon            1..182
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /inference="alignment:Splign:2.1.0"
     exon            183..234
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /inference="alignment:Splign:2.1.0"
     exon            235..359
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /inference="alignment:Splign:2.1.0"
     exon            360..2197
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             474..1682
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /note="smad-interacting zinc finger protein 1;
                     paraneoplastic Ma antigen family member 7A; zinc finger,
                     CCHC domain containing 12"
                     /codon_start=1
                     /product="zinc finger CCHC domain-containing protein 12"
                     /protein_id="NP_776159.1"
                     /db_xref="CCDS:CCDS14574.1"
                     /db_xref="GeneID:170261"
                     /db_xref="HGNC:HGNC:27273"
                     /db_xref="MIM:300701"
                     /translation="MASIIARVGNSRRLNAPLPPWAHSMLRSLGRSLGPIMASMADRN
                     MKLFSGRVVPAQGEETFENWLTQVNGVLPDWNMSEEEKLKRLMKTLRGPAREVMRVLQ
                     ATNPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAI
                     QAGIIAEKDANRTRLQQLLLGGELSRDLRLRLKDFLRMYANEQERLPNFLELIRMVRE
                     EEDWDDAFIKRKRPKRSESMVERAVSPVAFQGSPPIVIGSADCNVIEIDDTLDDSDED
                     VILVESQDPPLPSWGAPPLRDRARPQDEVLVIDSPHNSRAQFPSTSGGSGYKNNGPGE
                     MRRARKRKHTIRCSYCGEEGHSKETCDNESDKAQVFENLIITLQELTHTEMERSRVAP
                     GEYNDFSEPL"
     regulatory      2178..2183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /note="hexamer: AATAAA"
     polyA_site      2197
                     /gene="ZCCHC12"
                     /gene_synonym="PNMA7A; SIZN; SIZN1"
                     /note="major polyA site"
ORIGIN      
        1 ggcgctgcct cgtctctgct acccctggtt gggcggccct gcgaagcagc tccttcgggc
       61 agccccgggt cgcttagcgg ccaaggaggc ttcagttctt tgccgcctgc aaggcggaga
      121 ccagaaggcg gaatccacag ctggcgacgc gggagcatct gctgtccacc agcggagcac
      181 aggccatcaa agccgcatct gaacttgaat tctgtgcagc tgattgcaga gctggacccg
      241 gatctgcgac cccctgtgga cagaggttga ccgtaccccg gagaggagct ttctcacgga
      301 gggcactggt tgcagaggct ggaagtgaaa taaagacgcg ctcttgtttc agagttcgtc
      361 ccctgctgag ataggaaggc agagccacct cctctcctct cccacctgca gattaagctt
      421 ttctaaaaag cctaggcatc ttcttatatt cagataccct atcgtcgtca gtcatggcta
      481 gcatcattgc acgtgtcggt aacagccggc ggctgaatgc acccttgccg ccttgggccc
      541 attccatgct gaggtccctg gggagaagtc tcggtcctat aatggccagc atggcagaca
      601 gaaacatgaa gttgttctcg gggagggtgg tgccagccca aggggaagaa acctttgaaa
      661 actggctgac ccaagtcaat ggcgtcctgc cagattggaa tatgtctgag gaggaaaagc
      721 tcaagcgctt gatgaaaacc cttaggggcc ctgcccgcga ggtcatgcgt gtgcttcagg
      781 cgaccaaccc taacctaagt gtggcagatt tcttgcgagc catgaaattg gtgtttgggg
      841 agtctgaaag cagtgtgact gcccatggta aattttttaa caccctacaa gctcaagggg
      901 agaaagcctc cctttatgtg atccgtttag aggtgcagct ccagaacgct attcaggcag
      961 gcattatagc tgagaaagat gcaaaccgga ctcgcttgca gcagctcctt ttaggcggtg
     1021 agctgagtag ggacctccga ctcagactta aggattttct caggatgtat gcaaatgagc
     1081 aggagcggct tcccaacttt ctggagttaa tcagaatggt aagggaggaa gaggattggg
     1141 atgatgcttt tattaaacgg aagcgtccaa aaaggtctga gtcaatggtg gagagggcag
     1201 tcagccctgt ggcatttcag ggctccccac cgatagtgat cggcagtgct gactgcaatg
     1261 tgatagagat agatgatacc ctcgacgact ccgatgagga tgtgatcctg gtggagtctc
     1321 aggaccctcc acttccatcc tggggtgccc ctcccctcag agacagggcc agacctcagg
     1381 atgaagtgct ggtcattgat tccccccaca attccagggc tcagtttcct tccaccagtg
     1441 gtggttctgg ctataagaat aacggtcctg gggagatgcg tagagccagg aagcgaaaac
     1501 acacaatccg ctgttcgtat tgtggtgagg aaggccactc aaaagaaacc tgtgacaacg
     1561 agagtgacaa ggcccaggtt tttgagaatt tgatcatcac tctccaggag ctgacccata
     1621 ctgagatgga gaggtcaaga gtggcccctg gcgaatacaa tgacttctct gagccactgt
     1681 aagggaccac ccccaggttt cagtgaaccc ttacctatat tcagcatcca gtagtgggaa
     1741 aactggggtg ggggtggggg tgggacttct aactgcatga attaatccac aaagcggcta
     1801 tcttttgggg tggagtagaa agggtcttgg ataccagcac attggaggga gatagcctga
     1861 cctctgtcct tgctccttct ccctgcagcc tacgggtctg ttttctgtgt gtgcccattt
     1921 ccttgacagc tttattcttt gtgaaagtgg tataatttat tgttaaatat ttgaacaata
     1981 aaaaaggtac aaaaagtgaa gtacaaatta cccaaatctc tccaccctta tataatcatt
     2041 gtcaaccctt tgatgagtga tatttcccta tacctatgta cccagataga tatatgcata
     2101 gataaaagtg atgaaatata agtgctgttc tatctgtatt ttttcaccaa acaatatatg
     2161 ttgtgagctt ctatgtcaat aaatatatat atcagca
//
