LOCUS       NM_022482               4834 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens GDNF inducible zinc finger protein 1 (GZF1),
            transcript variant 2, mRNA.
ACCESSION   NM_022482 XM_005260797
VERSION     NM_022482.5
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 4834)
  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 4834)
  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 4834)
  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 4834)
  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 4834)
  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 4834)
  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 4834)
  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, AL096677.21, AK056159.1, AK025447.1, AA062926.1 and
            BM975844.1.
            
            On Nov 23, 2018 this sequence version replaced NM_022482.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056477.1, SRR1803614.105113.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338121.10/ ENSP00000338290.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-601               AK056477.1         1-601
            602-602             AL096677.21        20122-20122
            603-1635            AK056477.1         603-1635
            1636-1636           AL096677.21        24075-24075
            1637-1959           AK056477.1         1637-1959
            1960-2157           AK056159.1         1504-1701
            2158-3908           AK056477.1         2158-3908
            3909-4025           AK025447.1         2875-2991
            4026-4383           AA062926.1         110-467
            4384-4814           BM975844.1         37-467              c
            4815-4834           BM975844.1         16-35               c
FEATURES             Location/Qualifiers
     source          1..4834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..4834
                     /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..56
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            57..1441
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..2213
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="isoform a is encoded by transcript variant 2; zinc
                     finger protein 336; zinc finger and BTB domain-containing
                     protein 23"
                     /codon_start=1
                     /product="GDNF-inducible zinc finger protein 1 isoform a"
                     /protein_id="NP_071927.1"
                     /db_xref="CCDS:CCDS13151.1"
                     /db_xref="GeneID:64412"
                     /db_xref="HGNC:HGNC:15808"
                     /db_xref="MIM:613842"
                     /translation="MESGAVLLESKSSPFNLLHEMHELRLLGHLCDVTVSVEYQGVRK
                     DFMAHKAVLAATSKFFKEVFLNEKSVDGTRTNVYLNEVQVADFASFLEFVYTAKVQVE
                     EDRVQRMLEVAEKLKCLDLSETCFQLKKQMLESVLLELQNFSESQEVEVSSGSQVSAA
                     PAPRASVATDGPHPSGLTDSLDYPGERASNGMSSDLPPKKSKDKLDKKKEVVKPPYPK
                     IRRASGRLAGRKVFVEIPKKKYTRRLREQQKTAEGDVGDYRCPQDQSPDRVGTEMEQV
                     SKNEGCQAGAELEELSKKAGPEEEEEEEEEDEEGEKKKSNFKCSICEKAFLYEKSFLK
                     HSKHRHGVATEVVYRCDTCGQTFANRCNLKSHQRHVHSSERHFPCELCGKKFKRKKDV
                     KRHVLQVHEGGGERHRCGQCGKGLSSKTALRLHERTHTGDRPYGCTECGARFSQPSAL
                     KTHMRIHTGEKPFVCDECGARFTQNHMLIYHKRCHTGERPFMCETCGKSFASKEYLKH
                     HNRIHTGSKPFKCEVCFRTFAQRNSLYQHIKVHTGERPYCCDQCGKQFTQLNALQRHR
                     RIHTGERPFMCNACGRTFTDKSTLRRHTSIHDKNTPWKSFLVIVDGSPKNDDGHKTEQ
                     PDEEYVSSKLSDKLLSFAENGHFHNLAAVQDTVPTMQENSSADTACKADDSVVSQDTL
                     LATTISELSELTPQTDSMPTQLHSLSNME"
     exon            1442..1536
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1704
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1862
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..4834
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3557..3562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: ATTAAA"
     polyA_site      3577
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="major polyA site"
     regulatory      3890..3895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      3914
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="major polyA site"
     regulatory      4001..4006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      4022
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
     regulatory      4796..4801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /note="hexamer: AATAAA"
     polyA_site      4834
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
ORIGIN      
        1 gttcctaccg gcctggtcca gcggacagcg gctgcagcgg gggcgccggc tgggagctgt
       61 ttttggaagg aagaaagatg gaaagcggtg cagttctgct ggaatccaaa tcctccccat
      121 ttaacctact gcatgagatg catgagcttc gcctcctggg tcacctgtgt gacgtgacag
      181 tcagcgtgga gtatcagggt gtccgcaaag acttcatggc ccacaaggca gtgctggctg
      241 ccaccagcaa gttttttaag gaagtgttcc ttaatgagaa gagtgtggat ggtactagga
      301 ctaatgtcta cttaaatgaa gtgcaggttg ctgactttgc ttcatttctt gagtttgtct
      361 acactgcaaa ggtacaggtg gaagaagatc gggtgcagcg aatgctggaa gtggctgaaa
      421 agctgaaatg tttggattta tcagaaactt gttttcaatt aaagaaacag atgttagagt
      481 cagtactttt ggagttgcaa aatttctcag agtctcagga ggtggaggtg agcagtggct
      541 cccaagttag tgctgctcct gcccccaggg caagtgtggc caccgatggc cctcacccca
      601 gtggtctcac ggattccttg gactacccag gagagagagc cagcaatggc atgtcttcag
      661 atttgccacc gaagaagtcc aaggacaaac tagacaagaa gaaagaggta gttaaacctc
      721 cctaccctaa aatcaggaga gctagtggaa ggctggctgg gaggaaggtc tttgtggaga
      781 tccctaaaaa gaaatatacg agaagactcc gagagcagca gaaaactgct gagggtgatg
      841 tgggggacta caggtgtccc caggaccaaa gcccggacag ggtgggcacg gagatggagc
      901 aggtttccaa aaatgagggt tgccaggcag gtgctgagtt ggaggaattg tcaaagaaag
      961 cagggccgga ggaggaagag gaggaggagg aggaggacga agaaggggag aagaagaaga
     1021 gcaactttaa gtgcagcatt tgcgagaagg cgtttctgta tgagaagagc ttcctgaagc
     1081 acagcaagca ccgccacggc gtggccaccg aggtggtgta ccgctgcgac acctgcggcc
     1141 agaccttcgc caaccgctgc aacctgaaga gccaccagcg ccacgtgcac agcagcgagc
     1201 gccatttccc atgcgagctg tgcgggaaga agttcaagcg caagaaggac gtgaagcggc
     1261 acgtgctgca ggtgcatgag ggcggcggcg agcggcaccg ctgcggccag tgcggcaagg
     1321 gcctgagttc caagacagcg ctgcggctgc acgagcgcac acacacggga gaccggccct
     1381 acggctgcac cgagtgcggc gccaggttct cgcagccgtc cgcgctcaag acgcacatga
     1441 gaattcatac aggggaaaaa ccttttgtct gtgatgaatg tggtgcaaga ttcactcaga
     1501 accacatgct gatttatcat aaaaggtgtc acacaggtga aagacctttt atgtgtgaaa
     1561 catgtggcaa gagttttgct tctaaggagt acttaaaaca ccacaataga atccatactg
     1621 gatccaaacc ctttaaatgt gaagtatgtt tcaggacttt tgcccagcgg aattcactgt
     1681 accagcatat taaagtccac acaggggagc gtccctactg ctgtgaccag tgcggcaagc
     1741 agttcaccca gctcaacgcc ctccagcgcc accgccgcat ccacacaggg gagaggccat
     1801 tcatgtgcaa tgcgtgcgga cggacattca ccgacaagtc cactcttcgg cggcacacct
     1861 caatacacga taagaatact ccatggaagt ctttccttgt cattgtagat ggctcgccca
     1921 agaacgatga cggacacaag actgaacagc ctgacgaaga gtatgtgtca tccaagcttt
     1981 cggataaatt gctgtctttt gcagaaaatg gccatttcca caacctggct gcagtccaag
     2041 acactgtacc taccatgcag gagaacagtt ctgctgacac agcctgcaag gcagatgact
     2101 ccgtggtgtc ccaggacacc ctcctggcca ccaccatcag tgagcttagc gagctgaccc
     2161 cacagacaga ctcgatgccc acacagcttc actctttgag caacatggaa taagagcttc
     2221 aagcagttcc catcctgtta gtctgcgtgt gtggtagctg aactcaagat gatgtggggc
     2281 taagaaaaat aattgtccat gtgcaaagat gtgggcaaga atggcctctg cagattttcc
     2341 tgaacttctg ctaacttgca cggctttatc acagcatttt taaagctttc cctcaaaaat
     2401 cctgatctgc atgatctcag ctactttatt gacaaaaagg cagtgaacat aacctcactt
     2461 aattctggtg tagggtgtat gtgctaatcg ttctaattct tgattaccta gtttatagat
     2521 aactgctggt cttaattgca gagtacagag aactgaacca gctcctgata ttgtagttag
     2581 cagtcttcct ggcttctcac tctgccttat atttccatgt gggtttactt ctctcataac
     2641 tactttcaag gtatttttct tccaagctga aataaaactg gggccacata ttttcagtca
     2701 tttcttccct gttgaattga agcaaatcag attttctgtg gggaccctca aatgcaactg
     2761 aagaaataga ttgttgcatt cattcctccc caccccccat ttgtaggcag taaacaaagt
     2821 atgactgaca gattgaacac ctgcaaaact gctagcgtaa tctcagcaca tacgcagcta
     2881 ggaagtttgt cataaaatca acttagaaat gagatgaggc tgttcagttt gtcttaaaaa
     2941 aatcagatta ggtaaaagct gtcctaccaa agagtctagc aaaacaatat agtatttttt
     3001 tgcagaggca tgaaaaatta agacgcttta gagtacttga aagttgtgta gtcattttat
     3061 ttgcaaaatg aggtgactgt ggcaaattat agaacacaga gtattattac ttttgccagg
     3121 tttttctgac ttgatttctg taatttccag aaacccagac ttctcatttc cacacctaga
     3181 gatggaaaca ggcaagtaac tgacatgtct atttccttgg gagcatgtga gaacatagca
     3241 gtagggacca aaagtctcag cacacttacc tccgattatg ccttaaagag ttgattgtga
     3301 agaaccagta actttgtccc aaatgcttct ttggctgttt catgcaggac ttaattattg
     3361 cttttaaaaa ttcacaatga aaagacgatt ctgctgtatt tgttaaacgt tgacatttgg
     3421 ttctagggcc ttgagtatgt gccacgtgct tgtgaaatgc tatgattcac atgtaacatt
     3481 taaacattaa tttaaaaagg gaaccttgga gaattctttt gttcactagt tccttttttc
     3541 tctacatttt taatttatta aacttgctgt gaaaacactt tgattttcta agaggaaggt
     3601 actttaagtt ccagaatgaa catgtagctg cactatgcca gaaattaatg agggaagact
     3661 ttcttcctaa gtgcttatgt tttaacttat gttagtgaaa ccactacaag gtgtttcagg
     3721 cgctgataac atgcttcaca cctgcccttg gaggtcacag tactaattta cttcaaattt
     3781 agttatgaca gtgtcactgt atcctagtta tgtttacagc acaaataaat aatgactgtc
     3841 atacatccag aggagaccga acctgcccag ctgatgtact gttttatgga ataaagtcac
     3901 ttgatcagaa ggaattgaaa caatagatca ttttgttacc tactggaggg atttttgtct
     3961 tgaatttgtt tccttagaaa ttctacaaaa aaatgttgtt aataaatgtc tgctttgtaa
     4021 aagcagtttt gcaatttttt aaagatctat ttctgttata atttaggttc tgcagaaata
     4081 tgattcttaa ttgaaacata taatttgctt aattacgtga ataatgaaat gtaaaatccg
     4141 ggtccataag cctttatttc atacagtcct aggattaagc tgtttaactg cttggatccc
     4201 agttggtctc tggcagtggg atcctggaga ggagaaatcc tggcctctgc tcatgcgcag
     4261 gccacaaccg ggctggaagt gcggttgagc tctctgccac tttcttcaat gtaaaaagta
     4321 ggcatcaaag atacgacttc tactatatac atttctctgt ccctgagaac agagaaacgt
     4381 aaccctgtag gggactggtt acagaggacc tcctggagca tctgccccat tcctccaagt
     4441 ccaagcacag ccatgctgag tggaagcgag gccaccatct gagtggattg gtcccaagtg
     4501 tgtaatgagg aaagtggcca ggtgccggca cagtgcctct cccagagcct caagaagggc
     4561 catttaggag cttgcttcaa ccattttcca accattttct gtgaaatgct gtcagcccaa
     4621 actccaaagg gatgtgcagc ctttcgtttt accaaattct ttgctgtcgt ttggaaaaaa
     4681 tgggccatgt ggtggagacc tttatttaag gtgattttta cagaaatgtg attttgctgt
     4741 aggtgattat ccaaacaagt aaatttgagt gtataattta atttttaacc tgttaaataa
     4801 accttgtccc tccaaggagt tcatttttgg gaaa
//
