LOCUS       NM_001317019            4747 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens GDNF inducible zinc finger protein 1 (GZF1),
            transcript variant 3, mRNA.
ACCESSION   NM_001317019
VERSION     NM_001317019.1
KEYWORDS    RefSeq.
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 4747)
  AUTHORS   Zeng,L., Li,Z., Pan,L., Li,H., Wu,J., Yuan,X., Li,Z., Liang,D. and
            Wu,L.
  TITLE     Novel GZF1 pathogenic variants identified in two Chinese patients
            with Larsen syndrome
  JOURNAL   Clin Genet 99 (2), 281-285 (2021)
   PUBMED   33009817
  REMARK    GeneRIF: Novel GZF1 pathogenic variants identified in two Chinese
            patients with Larsen syndrome.
REFERENCE   2  (bases 1 to 4747)
  AUTHORS   Patel,N., Shamseldin,H.E., Sakati,N., Khan,A.O., Softa,A.,
            Al-Fadhli,F.M., Hashem,M., Abdulwahab,F.M., Alshidi,T., Alomar,R.,
            Alobeid,E., Wakil,S.M., Colak,D. and Alkuraya,F.S.
  TITLE     GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
  JOURNAL   Am J Hum Genet 100 (5), 831-836 (2017)
   PUBMED   28475863
  REMARK    GeneRIF: We report an autosomal-recessive Larsen syndrome that is
            most likely caused by GZF1 mutations.
REFERENCE   3  (bases 1 to 4747)
  AUTHORS   Saito,S., Murakumo,Y., Tsuzuki,T., Dambara,A., Kato,T., Enomoto,A.,
            Asai,N., Maruyama,S., Matsuo,S. and Takahashi,M.
  TITLE     Analysis of glial cell line-derived neurotrophic factor-inducible
            zinc finger protein 1 expression in human diseased kidney
  JOURNAL   Hum Pathol 42 (6), 848-858 (2011)
   PUBMED   21292309
  REMARK    GeneRIF: These findings suggest that GZF1 represents a new marker
            for renal proximal tubules.
REFERENCE   4  (bases 1 to 4747)
  AUTHORS   Dambara,A., Morinaga,T., Fukuda,N., Yamakawa,Y., Kato,T.,
            Enomoto,A., Asai,N., Murakumo,Y., Matsuo,S. and Takahashi,M.
  TITLE     Nucleolin modulates the subcellular localization of GDNF-inducible
            zinc finger protein 1 and its roles in transcription and cell
            proliferation
  JOURNAL   Exp Cell Res 313 (17), 3755-3766 (2007)
   PUBMED   17674968
  REMARK    GeneRIF: The repressive activity of GZF1 is modulated by the level
            at which nucleolin is expressed.
REFERENCE   5  (bases 1 to 4747)
  AUTHORS   Morinaga,T., Enomoto,A., Shimono,Y., Hirose,F., Fukuda,N.,
            Dambara,A., Jijiwa,M., Kawai,K., Hashimoto,K., Ichihara,M.,
            Asai,N., Murakumo,Y., Matsuo,S. and Takahashi,M.
  TITLE     GDNF-inducible zinc finger protein 1 is a sequence-specific
            transcriptional repressor that binds to the HOXA10 gene regulatory
            region
  JOURNAL   Nucleic Acids Res 33 (13), 4191-4201 (2005)
   PUBMED   16049025
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4747)
  AUTHORS   Fukuda,N., Ichihara,M., Morinaga,T., Kawai,K., Hayashi,H.,
            Murakumo,Y., Matsuo,S. and Takahashi,M.
  TITLE     Identification of a novel glial cell line-derived neurotrophic
            factor-inducible gene required for renal branching morphogenesis
  JOURNAL   J Biol Chem 278 (50), 50386-50392 (2003)
   PUBMED   14522971
  REMARK    GeneRIF: induction of GZF1 expression via the is required for renal
            branching morphogenesis
            Erratum:[J Biol Chem. 2004 Jan 23;279(4):3120]
REFERENCE   7  (bases 1 to 4747)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056477.1, BC154409.1, AL096677.21 and BM975844.1.
            
            Transcript Variant: This variant (3) contains an alternate 3'
            terminal exon, resulting in a novel 3' coding region and a distinct
            3' UTR, compared to variant 1. The encoded isoform (b) has a
            distinct C-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.164308.1,
                                           SRR1660803.79484.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AK056477.1         57-77
            22-416              BC154409.1         4-398
            417-845             AL096677.21        19993-20421
            846-2320            BC154409.1         828-2302
            2321-4281           AL096677.21        25865-27825
            4282-4712           BM975844.1         37-467              c
            4713-4747           BM975844.1         1-35                c
FEATURES             Location/Qualifiers
     source          1..4747
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..4747
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="GDNF inducible zinc finger protein 1"
                     /db_xref="GeneID:64412"
                     /db_xref="HGNC:HGNC:15808"
                     /db_xref="MIM:613842"
     exon            1..1385
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..2055
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="isoform b is encoded by transcript variant 3; zinc
                     finger protein 336; zinc finger and BTB domain-containing
                     protein 23"
                     /codon_start=1
                     /product="GDNF-inducible zinc finger protein 1 isoform b"
                     /protein_id="NP_001303948.1"
                     /db_xref="GeneID:64412"
                     /db_xref="HGNC:HGNC:15808"
                     /db_xref="MIM:613842"
                     /translation="MESGAVLLESKSSPFNLLHEMHELRLLGHLCDVTVSVEYQGVRK
                     DFMAHKAVLAATSKFFKEVFLNEKSVDGTRTNVYLNEVQVADFASFLEFVYTAKVQVE
                     EDRVQRMLEVAEKLKCLDLSETCFQLKKQMLESVLLELQNFSESQEVEVSSGSQVSAA
                     PAPRASVATDGPHPSGLTDSLDYPGERASNGMSSDLPPKKSKDKLDKKKEVVKPPYPK
                     IRRASGRLAGRKVFVEIPKKKYTRRLREQQKTAEGDVGDYRCPQDQSPDRVGTEMEQV
                     SKNEGCQAGAELEELSKKAGPEEEEEEEEEDEEGEKKKSNFKCSICEKAFLYEKSFLK
                     HSKHRHGVATEVVYRCDTCGQTFANRCNLKSHQRHVHSSERHFPCELCGKKFKRKKDV
                     KRHVLQVHEGGGERHRCGQCGKGLSSKTALRLHERTHTGDRPYGCTECGARFSQPSAL
                     KTHMRIHTGEKPFVCDECGARFTQNHMLIYHKRCHTGERPFMCETCGKSFASKEYLKH
                     HNRIHTGSKPFKCEVCFRTFAQRNSLYQHIKVHTGERPYCCDQCGKQFTQLNALQRHR
                     RIHTGERPFMCNACGRTFTDKSTLRRHTSMARPRTMTDTRLNSLTKSMCHPSFRINCC
                     LLQKMAISTTWLQSKTLYLPCRRTVLLTQPARQMTPWCPRTPSWPPPSVSLAS"
     exon            1386..1480
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1648
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1806
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..4732
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3455..3460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: ATTAAA"
     polyA_site      3475
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="major polyA site"
     regulatory      3788..3793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      3812
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="major polyA site"
     regulatory      3899..3904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      3920
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
     regulatory      4694..4699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      4732
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
ORIGIN      
        1 ctgtttttgg aaggaagaaa gatggaaagc ggtgcagttc tgctggaatc caaatcctcc
       61 ccatttaacc tactgcatga gatgcatgag cttcgcctcc tgggtcacct gtgtgacgtg
      121 acagtcagcg tggagtatca gggtgtccgc aaagacttca tggcccacaa ggcagtgctg
      181 gctgccacca gcaagttttt taaggaagtg ttccttaatg agaagagtgt ggatggtact
      241 aggactaatg tctacttaaa tgaagtgcag gttgctgact ttgcttcatt tcttgagttt
      301 gtctacactg caaaggtaca ggtggaagaa gatcgggtgc agcgaatgct ggaagtggct
      361 gaaaagctga aatgtttgga tttatcagaa acttgttttc aattaaagaa acagatgtta
      421 gagtcagtac ttttggagtt gcaaaatttc tcagagtctc aggaggtgga ggtgagcagt
      481 ggctcccaag ttagtgctgc tcctgccccc agggcaagtg tggccaccga tggccctcac
      541 cccagtggtc tcacggattc cttggactac ccaggagaga gagccagcaa tggcatgtct
      601 tcagatttgc caccgaagaa gtccaaggac aaactagaca agaagaaaga ggtagttaaa
      661 cctccctacc ctaaaatcag gagagctagt ggaaggctgg ctgggaggaa ggtctttgtg
      721 gagatcccta aaaagaaata tacgagaaga ctccgagagc agcagaaaac tgctgagggt
      781 gatgtggggg actacaggtg tccccaggac caaagcccgg acagggtggg cacggagatg
      841 gagcaggttt ccaaaaatga gggttgccag gcaggtgctg agttggagga attgtcaaag
      901 aaagcagggc cggaggagga agaggaggag gaggaggagg acgaagaagg ggagaagaag
      961 aagagcaact ttaagtgcag catttgcgag aaggcgtttc tgtatgagaa gagcttcctg
     1021 aagcacagca agcaccgcca cggcgtggcc accgaggtgg tgtaccgctg cgacacctgc
     1081 ggccagacct tcgccaaccg ctgcaacctg aagagccacc agcgccacgt gcacagcagc
     1141 gagcgccatt tcccatgcga gctgtgcggg aagaagttca agcgcaagaa ggacgtgaag
     1201 cggcacgtgc tgcaggtgca tgagggcggc ggcgagcggc accgctgcgg ccagtgcggc
     1261 aagggcctga gttccaagac agcgctgcgg ctgcacgagc gcacacacac gggagaccgg
     1321 ccctacggct gcaccgagtg cggcgccagg ttctcgcagc cgtccgcgct caagacgcac
     1381 atgagaattc atacagggga aaaacctttt gtctgtgatg aatgtggtgc aagattcact
     1441 cagaaccaca tgctgattta tcataaaagg tgtcacacag gtgaaagacc ttttatgtgt
     1501 gaaacatgtg gcaagagttt tgcttctaag gagtacttaa aacaccacaa tagaatccat
     1561 actggatcca aaccctttaa atgtgaagta tgtttcagga cttttgccca gcggaattca
     1621 ctgtaccagc atattaaagt ccacacaggg gagcgtccct actgctgtga ccagtgcggc
     1681 aagcagttca cccagctcaa cgccctccag cgccaccgcc gcatccacac aggggagagg
     1741 ccattcatgt gcaatgcgtg cggacggaca ttcaccgaca agtccactct tcggcggcac
     1801 acctcaatgg ctcgcccaag aacgatgacg gacacaagac tgaacagcct gacgaagagt
     1861 atgtgtcatc caagctttcg gataaattgc tgtcttttgc agaaaatggc catttccaca
     1921 acctggctgc agtccaagac actgtaccta ccatgcagga gaacagttct gctgacacag
     1981 cctgcaaggc agatgactcc gtggtgtccc aggacaccct cctggccacc accatcagtg
     2041 agcttagcga gctgacccca cagacagact cgatgcccac acagcttcac tctttgagca
     2101 acatggaata agagcttcaa gcagttccca tcctgttagt ctgcgtgtgt ggtagctgaa
     2161 ctcaagatga tgtggggcta agaaaaataa ttgtccatgt gcaaagatgt gggcaagaat
     2221 ggcctctgca gattttcctg aacttctgct aacttgcacg gctttatcac agcattttta
     2281 aagctttccc tcaaaaatcc tgatctgcat gatctcagct actttattga caaaaaggca
     2341 gtgaacataa cctcacttaa ttctggtgta gggtgtatgt gctaatcgtt ctaattcttg
     2401 attacctagt ttatagataa ctgctggtct taattgcaga gtacagagaa ctgaaccagc
     2461 tcctgatatt gtagttagca gtcttcctgg cttctcactc tgccttatat ttccatgtgg
     2521 gtttacttct ctcataacta ctttcaaggt atttttcttc caagctgaaa taaaactggg
     2581 gccacatatt ttcagtcatt tcttccctgt tgaattgaag caaatcagat tttctgtggg
     2641 gaccctcaaa tgcaactgaa gaaatagatt gttgcattca ttcctcccca ccccccattt
     2701 gtaggcagta aacaaagtat gactgacaga ttgaacacct gcaaaactgc tagcgtaatc
     2761 tcagcacata cgcagctagg aagtttgtca taaaatcaac ttagaaatga gatgaggctg
     2821 ttcagtttgt cttaaaaaaa tcagattagg taaaagctgt cctaccaaag agtctagcaa
     2881 aacaatatag tatttttttg cagaggcatg aaaaattaag acgctttaga gtacttgaaa
     2941 gttgtgtagt cattttattt gcaaaatgag gtgactgtgg caaattatag aacacagagt
     3001 attattactt ttgccaggtt tttctgactt gatttctgta atttccagaa acccagactt
     3061 ctcatttcca cacctagaga tggaaacagg caagtaactg acatgtctat ttccttggga
     3121 gcatgtgaga acatagcagt agggaccaaa agtctcagca cacttacctc cgattatgcc
     3181 ttaaagagtt gattgtgaag aaccagtaac tttgtcccaa atgcttcttt ggctgtttca
     3241 tgcaggactt aattattgct tttaaaaatt cacaatgaaa agacgattct gctgtatttg
     3301 ttaaacgttg acatttggtt ctagggcctt gagtatgtgc cacgtgcttg tgaaatgcta
     3361 tgattcacat gtaacattta aacattaatt taaaaaggga accttggaga attcttttgt
     3421 tcactagttc cttttttctc tacattttta atttattaaa cttgctgtga aaacactttg
     3481 attttctaag aggaaggtac tttaagttcc agaatgaaca tgtagctgca ctatgccaga
     3541 aattaatgag ggaagacttt cttcctaagt gcttatgttt taacttatgt tagtgaaacc
     3601 actacaaggt gtttcaggcg ctgataacat gcttcacacc tgcccttgga ggtcacagta
     3661 ctaatttact tcaaatttag ttatgacagt gtcactgtat cctagttatg tttacagcac
     3721 aaataaataa tgactgtcat acatccagag gagaccgaac ctgcccagct gatgtactgt
     3781 tttatggaat aaagtcactt gatcagaagg aattgaaaca atagatcatt ttgttaccta
     3841 ctggagggat ttttgtcttg aatttgtttc cttagaaatt ctacaaaaaa atgttgttaa
     3901 taaatgtctg ctttgtaaaa gcagttttgc aattttttaa agatctattt ctgttataat
     3961 ttaggttctg cagaaatatg attcttaatt gaaacatata atttgcttaa ttacgtgaat
     4021 aatgaaatgt aaaatccggg tccataagcc tttatttcat acagtcctag gattaagctg
     4081 tttaactgct tggatcccag ttggtctctg gcagtgggat cctggagagg agaaatcctg
     4141 gcctctgctc atgcgcaggc cacaaccggg ctggaagtgc ggttgagctc tctgccactt
     4201 tcttcaatgt aaaaagtagg catcaaagat acgacttcta ctatatacat ttctctgtcc
     4261 ctgagaacag agaaacgtaa ccctgtaggg gactggttac agaggacctc ctggagcatc
     4321 tgccccattc ctccaagtcc aagcacagcc atgctgagtg gaagcgaggc caccatctga
     4381 gtggattggt cccaagtgtg taatgaggaa agtggccagg tgccggcaca gtgcctctcc
     4441 cagagcctca agaagggcca tttaggagct tgcttcaacc attttccaac cattttctgt
     4501 gaaatgctgt cagcccaaac tccaaaggga tgtgcagcct ttcgttttac caaattcttt
     4561 gctgtcgttt ggaaaaaatg ggccatgtgg tggagacctt tatttaaggt gatttttaca
     4621 gaaatgtgat tttgctgtag gtgattatcc aaacaagtaa atttgagtgt ataatttaat
     4681 ttttaacctg ttaaataaac cttgtccctc caaggagttc atttttggga aaaaaaaaaa
     4741 aaaaaaa
//
