LOCUS       NM_144631               2144 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens zinc finger protein 513 (ZNF513), transcript variant
            1, mRNA.
ACCESSION   NM_144631
VERSION     NM_144631.6
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 2144)
  AUTHORS   Chen,J., Xu,X., Chen,S., Lu,T., Zheng,Y., Gan,Z., Shen,Z., Ma,S.,
            Wang,D., Su,L., He,F., Shang,X., Xu,H., Chen,D., Zhang,L. and
            Xiong,F.
  TITLE     Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause
            hereditary gingival fibromatosis
  JOURNAL   Int J Oral Sci 15 (1), 46 (2023)
   PUBMED   37752101
  REMARK    GeneRIF: Double heterozygous pathogenic mutations in KIF3C and
            ZNF513 cause hereditary gingival fibromatosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2144)
  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   3  (bases 1 to 2144)
  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   4  (bases 1 to 2144)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 2144)
  AUTHORS   Li,L., Nakaya,N., Chavali,V.R., Ma,Z., Jiao,X., Sieving,P.A.,
            Riazuddin,S., Tomarev,S.I., Ayyagari,R., Riazuddin,S.A. and
            Hejtmancik,J.F.
  TITLE     A mutation in ZNF513, a putative regulator of photoreceptor
            development, causes autosomal-recessive retinitis pigmentosa
  JOURNAL   Am J Hum Genet 87 (3), 400-409 (2010)
   PUBMED   20797688
  REMARK    GeneRIF: These results suggest that the ZNF513 p.C339R mutation is
            responsible for retinitis pigmentosa and that ZNF513 plays a key
            role in the regulation of photoreceptor-specific genes in retinal
            development and photoreceptor maintenance.
REFERENCE   6  (bases 1 to 2144)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2144)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   8  (bases 1 to 2144)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB024976.1, BC052282.1 and
            AI766724.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144631.5.
            
            Summary: The protein encoded by this gene is a possible
            transcriptional regulator involved in retinal development. Defects
            in this gene can be a cause of autosomal-recessive retinitis
            pigmentosa. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052282.1, AK290690.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323703.11/ ENSP00000318373.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DB024976.1         11-18
            9-2006              BC052282.1         1-1998
            2007-2144           AI766724.1         15-152              c
FEATURES             Location/Qualifiers
     source          1..2144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2144
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /note="zinc finger protein 513"
                     /db_xref="GeneID:130557"
                     /db_xref="HGNC:HGNC:26498"
                     /db_xref="MIM:613598"
     exon            1..263
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1834
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 513 isoform 1"
                     /protein_id="NP_653232.3"
                     /db_xref="CCDS:CCDS1751.1"
                     /db_xref="GeneID:130557"
                     /db_xref="HGNC:HGNC:26498"
                     /db_xref="MIM:613598"
                     /translation="MPRRKQSHPQPVKCEGVKVDTEDSLDEGPGALVLESDLLLGQDL
                     EFEEEEEEEEGDGNSDQLMGFERDSEGDSLGARPGLPYGLSDDESGGGRALSAESEVE
                     EPARGPGEARGERPGPACQLCGGPTGEGPCCGAGGPGGGPLLPPRLLYSCRLCTFVSH
                     YSSHLKRHMQTHSGEKPFRCGRCPYASAQLVNLTRHTRTHTGEKPYRCPHCPFACSSL
                     GNLRRHQRTHAGPPTPPCPTCGFRCCTPRPARPPSPTEQEGAVPRRPEDALLLPDLSL
                     HVPPGGASFLPDCGQLRGEGEGLCGTGSEPLPELLFPWTCRGCGQELEEGEGSRLGAA
                     MCGRCMRGEAGGGASGGPQGPSDKGFACSLCPFATHYPNHLARHMKTHSGEKPFRCAR
                     CPYASAHLDNLKRHQRVHTGEKPYKCPLCPYACGNLANLKRHGRIHSGDKPFRCSLCN
                     YSCNQSMNLKRHMLRHTGEKPFRCATCAYTTGHWDNYKRHQKVHGHGGAGGPGLSASE
                     GWAPPHSPPSVLSSRGPPALGTAGSRAVHTDSS"
     exon            264..419
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /inference="alignment:Splign:2.1.0"
     exon            420..1007
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..2144
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2124..2129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /note="hexamer: AATAAA"
     polyA_site      2144
                     /gene="ZNF513"
                     /gene_synonym="HMFT0656; RP58; Zfp513"
                     /note="major polyA site"
ORIGIN      
        1 agggggctcc atgaatggaa gcggcggcgg cggcgggagc ggcctgagct gggcgccggg
       61 gccagggccg ggggctgccc agggcccgcg ccgctgcatg ggggcggccc gcgggccctg
      121 agaggaaggg cagacaggcg ggccgagata ggaggggcgg ggtcgggcgg ccgcaggccg
      181 gaggcgcgtc gggctggagc cggtcacgat gccccgaagg aagcaaagcc acccgcagcc
      241 cgtgaaatgc gagggggtca aagtggatac tgaagactcc ctcgacgaag gacccggggc
      301 cctggtattg gagagtgatt tgctactagg ccaggatctg gagtttgagg aggaagagga
      361 agaggaggaa ggcgacggca acagtgacca gctcatgggc ttcgagagag actcggaagg
      421 agactctctg ggggccaggc ctgggcttcc ctatgggctg agcgacgatg agtctggggg
      481 cggccgggca ctaagtgcgg agagtgaagt tgaggagcca gccaggggtc caggggaggc
      541 caggggtgag aggccaggcc cagcctgcca gctgtgtggg gggccgacag gtgaggggcc
      601 gtgttgtggg gcaggagggc cgggtggggg gcccctgctg cccccacggc tactgtactc
      661 atgccgcctc tgcaccttcg tgtcccacta ctcgagccac ctgaagcggc acatgcagac
      721 acacagcgga gagaagccgt tccgctgtgg ccgctgcccc tacgcctcag cccagctcgt
      781 caacctgaca cgacataccc gcacccacac tggcgagaag ccctaccgct gtccccactg
      841 cccctttgcc tgcagcagcc tgggcaacct gaggcggcat cagcgtaccc acgcagggcc
      901 ccccactcct ccctgcccga cctgtggctt ccgctgctgt actccacgac cagcccggcc
      961 tcccagtccc acagagcagg agggggcggt gccccggcga cctgaagatg ctctgctcct
     1021 tccagatttg agcctccatg tgccaccagg tggtgccagt ttcctgccag actgtgggca
     1081 gctgcggggt gaaggggagg gcctctgcgg gactggatca gaaccactgc cagagctgct
     1141 attcccttgg acctgccggg gctgtggaca agagctggag gagggtgagg gtagtcggct
     1201 gggagctgcc atgtgtgggc gctgcatgcg aggagaggct ggagggggtg ccagtggggg
     1261 gccccagggc cccagtgaca aaggctttgc ctgtagcctc tgcccctttg ccactcacta
     1321 tcccaaccac ctggcccggc acatgaagac acacagtggt gagaagccct tccgctgcgc
     1381 ccgctgtcct tatgcctctg ctcatctgga taacctgaaa cggcaccagc gcgtccatac
     1441 aggagagaag ccctacaagt gccccctctg cccttatgcc tgtggcaatc tggccaacct
     1501 caagcgtcat ggtcgcatcc actctggtga caaacctttt cggtgtagcc tttgcaacta
     1561 cagctgcaac cagagcatga acctcaaacg tcacatgctg cggcacacag gcgagaagcc
     1621 cttccgctgt gccacctgcg cctataccac gggccactgg gacaactaca agcgccacca
     1681 gaaggtgcat ggccacggtg gggcaggagg gcctggtctc tctgcctctg agggctgggc
     1741 cccacctcat agcccaccct ctgttttgag ctctcggggc ccaccagccc tggggactgc
     1801 tggcagccgg gctgtccaca cagactcatc ctgaactagg tccttcttcc ccatgtttta
     1861 tacagacgga ccagaagcca cctttttctc ccccgctggc caggggctcc acacagacta
     1921 acgtaggcac tataaggacc agcccaaccc catgggcggg ggggcccata tggaccaggg
     1981 gaccttgcct tgactgaggc acttcacgag ctcagtgaga agggccctgt attcacctcc
     2041 actgccccca ggggctgtgg acaaaccggc tgggggactg cccagcctcc cacctgttta
     2101 tttaacttat ttcagtgctt tataataaag gaaacactaa caaa
//
