LOCUS       NM_000514               4171 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens glial cell derived neurotrophic factor (GDNF),
            transcript variant 1, mRNA.
ACCESSION   NM_000514
VERSION     NM_000514.4
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 4171)
  AUTHORS   Guo,X., Zhou,H., Liu,Y., Xu,W., Kanwore,K. and Zhang,L.
  TITLE     Glial-Cell-Line-Derived Neurotrophic Factor Promotes Glioblastoma
            Cell Migration and Invasion via the SMAD2/3-SERPINE1-Signaling Axis
  JOURNAL   Int J Mol Sci 25 (18), 10229 (2024)
   PUBMED   39337713
  REMARK    GeneRIF: Glial-Cell-Line-Derived Neurotrophic Factor Promotes
            Glioblastoma Cell Migration and Invasion via the
            SMAD2/3-SERPINE1-Signaling Axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4171)
  AUTHORS   Avenel,I.C.N., Ewald,J.D., Ariey-Bonnet,J., Kristensen,I.H.,
            Petterson,S.A., Thesbjerg,M.N., Burton,M., Thomassen,M.,
            Wennerberg,K., Michaelsen,S.R. and Kristensen,B.W.
  TITLE     GDNF/GFRA1 signaling contributes to chemo- and radioresistance in
            glioblastoma
  JOURNAL   Sci Rep 14 (1), 17639 (2024)
   PUBMED   39085346
  REMARK    GeneRIF: GDNF/GFRA1 signaling contributes to chemo- and
            radioresistance in glioblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4171)
  AUTHORS   Keszler,G., Vekony,B., Elek,Z., Nemoda,Z., Angyal,N., Banlaki,Z.,
            Kovacs-Nagy,R., Ronai,Z. and Rethelyi,J.M.
  TITLE     MicroRNA-Mediated Suppression of Glial Cell Line-Derived
            Neurotrophic Factor Expression Is Modulated by a
            Schizophrenia-Associated Non-Coding Polymorphism
  JOURNAL   Int J Mol Sci 25 (8), 4477 (2024)
   PUBMED   38674063
  REMARK    GeneRIF: MicroRNA-Mediated Suppression of Glial Cell Line-Derived
            Neurotrophic Factor Expression Is Modulated by a
            Schizophrenia-Associated Non-Coding Polymorphism.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4171)
  AUTHORS   Alster,P., Otto-Slusarczyk,D., Szlufik,S., Duszynska-Was,K.,
            Drzewinska,A., Wiercinska-Drapalo,A., Struga,M., Kutylowski,M.,
            Friedman,A. and Madetko-Alster,N.
  TITLE     The significance of glial cell line-derived neurotrophic factor
            analysis in Progressive Supranuclear Palsy
  JOURNAL   Sci Rep 14 (1), 2805 (2024)
   PUBMED   38307947
  REMARK    GeneRIF: The significance of glial cell line-derived neurotrophic
            factor analysis in Progressive Supranuclear Palsy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4171)
  AUTHORS   Airavaara,M., Pletnikova,O., Doyle,M.E., Zhang,Y.E., Troncoso,J.C.
            and Liu,Q.R.
  TITLE     Identification of novel GDNF isoforms and cis-antisense GDNFOS gene
            and their regulation in human middle temporal gyrus of Alzheimer
            disease
  JOURNAL   J Biol Chem 286 (52), 45093-45102 (2011)
   PUBMED   22081608
  REMARK    GeneRIF: Identification of novel GDNF isoforms and cis-antisense
            GDNFOS gene and their regulation in human middle temporal gyrus of
            Alzheimer disease
REFERENCE   6  (bases 1 to 4171)
  AUTHORS   Schindelhauer,D., Schuffenhauer,S., Gasser,T., Steinkasserer,A. and
            Meitinger,T.
  TITLE     The gene coding for glial cell line derived neurotrophic factor
            (GDNF) maps to chromosome 5p12-p13.1
  JOURNAL   Genomics 28 (3), 605-607 (1995)
   PUBMED   7490108
REFERENCE   7  (bases 1 to 4171)
  AUTHORS   Oppenheim,R.W., Houenou,L.J., Johnson,J.E., Lin,L.F., Li,L.,
            Lo,A.C., Newsome,A.L., Prevette,D.M. and Wang,S.
  TITLE     Developing motor neurons rescued from programmed and
            axotomy-induced cell death by GDNF
  JOURNAL   Nature 373 (6512), 344-346 (1995)
   PUBMED   7830769
REFERENCE   8  (bases 1 to 4171)
  AUTHORS   Tomac,A., Lindqvist,E., Lin,L.F., Ogren,S.O., Young,D., Hoffer,B.J.
            and Olson,L.
  TITLE     Protection and repair of the nigrostriatal dopaminergic system by
            GDNF in vivo
  JOURNAL   Nature 373 (6512), 335-339 (1995)
   PUBMED   7830766
REFERENCE   9  (bases 1 to 4171)
  AUTHORS   Schaar,D.G., Sieber,B.A., Sherwood,A.C., Dean,D., Mendoza,G.,
            Ramakrishnan,L., Dreyfus,C.F. and Black,I.B.
  TITLE     Multiple astrocyte transcripts encode nigral trophic factors in rat
            and human
  JOURNAL   Exp Neurol 130 (2), 387-393 (1994)
   PUBMED   7867768
REFERENCE   10 (bases 1 to 4171)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008869.5, AF053748.1 and
            AY052832.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000514.3.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. The recombinant form of this protein, a
            highly conserved neurotrophic factor, was shown to promote the
            survival and differentiation of dopaminergic neurons in culture,
            and was able to prevent apoptosis of motor neurons induced by
            axotomy. This protein is a ligand for the product of the RET
            (rearranged during transfection) protooncogene. Mutations in this
            gene may be associated with Hirschsprung disease and Tourette
            syndrome. This gene encodes multiple protein isoforms that may
            undergo similar proteolytic processing. [provided by RefSeq, Aug
            2016].
            
            Transcript Variant: This variant (1) differs in the 5' UTR,
            represents use of an alternate promoter, and uses a downstream
            start codon, compared to variant 3. The resulting isoform (1) has a
            shorter N-terminus, compared to isoform 3.
            
            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.
            
            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 :: AF053748.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326524.7/ ENSP00000317145.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-361               AC008869.5         108599-108959
            362-1123            AF053748.1         1-762
            1124-1197           AY052832.1         485-558
            1198-4171           AC008869.5         132990-135963
FEATURES             Location/Qualifiers
     source          1..4171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..4171
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="glial cell derived neurotrophic factor"
                     /db_xref="GeneID:2668"
                     /db_xref="HGNC:HGNC:4232"
                     /db_xref="MIM:600837"
     exon            1..535
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /inference="alignment:Splign:2.1.0"
     exon            536..712
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /inference="alignment:Splign:2.1.0"
     CDS             562..1197
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; astrocyte-derived trophic factor; glial cell
                     line-derived neurotrophic factor"
                     /codon_start=1
                     /product="glial cell line-derived neurotrophic factor
                     isoform 1 preproprotein"
                     /protein_id="NP_000505.1"
                     /db_xref="CCDS:CCDS3922.1"
                     /db_xref="GeneID:2668"
                     /db_xref="HGNC:HGNC:4232"
                     /db_xref="MIM:600837"
                     /translation="MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAP
                     FALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPEN
                     SRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKIL
                     KNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI"
     exon            713..4171
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4150..4155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="hexamer: AATAAA"
     polyA_site      4171
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="major polyA site"
ORIGIN      
        1 agcctgcgct cctggcgccc tcatgtcttc acgggactcc ccgcgccggt tgacgtggtg
       61 tctcgttcgg atctccaggc aagacctcag ctccggcagc agcatcagac aaaccagtct
      121 cgtgctccca ggcagtgcgc ccagaggagg cgcagagcgc ggcagctgcc gctgagccgc
      181 ccgcagcgcc ccgggcccgc gcagccccag ccaagagcgc gacgcgcgca gccctgtcag
      241 ccccccaccc aaagcagcgg cggctgctcg gacctcggct tctgggggtg cgggggcccg
      301 gcgggagagt tgccggcagc cctcgccctg ttggcggcgg cggcggcggg agtcttggcc
      361 gccgcctcca gcgcgccctt gctgccccgc gcgaccccag gattgcgaac tcttgcccct
      421 gacctgttgg gcggggctcc gcgctccagc catcagcccg gatgggtctc ctggctggga
      481 cttggggcac ctggagttaa tgtccaacct agggtctgcg gagacccgat ccgaggtgcc
      541 gccgccggac gggactttaa gatgaagtta tgggatgtcg tggctgtctg cctggtgctg
      601 ctccacaccg cgtccgcctt cccgctgccc gccggtaaga ggcctcccga ggcgcccgcc
      661 gaagaccgct ccctcggccg ccgccgcgcg cccttcgcgc tgagcagtga ctcaaatatg
      721 ccagaggatt atcctgatca gttcgatgat gtcatggatt ttattcaagc caccattaaa
      781 agactgaaaa ggtcaccaga taaacaaatg gcagtgcttc ctagaagaga gcggaatcgg
      841 caggctgcag ctgccaaccc agagaattcc agaggaaaag gtcggagagg ccagaggggc
      901 aaaaaccggg gttgtgtctt aactgcaata catttaaatg tcactgactt gggtctgggc
      961 tatgaaacca aggaggaact gatttttagg tactgcagcg gctcttgcga tgcagctgag
     1021 acaacgtacg acaaaatatt gaaaaactta tccagaaata gaaggctggt gagtgacaaa
     1081 gtagggcagg catgttgcag acccatcgcc tttgatgatg acctgtcgtt tttagatgat
     1141 aacctggttt accatattct aagaaagcat tccgctaaaa ggtgtggatg tatctgactc
     1201 cggctccaga gactgctgtg tattgcattc ctgctacagt gcaaagaaag ggaccaaggt
     1261 tcccaggaaa tgtttgccca gaatggaaga tgaggaccaa ggaggcggag gaggaggaag
     1321 aagaagagga ggaggaggag gaggaggagg aggaggagga aggcagccat catgggagcc
     1381 tggtagaggg agatccagct acagacaact ggacaggaga gagagaaaac agccctctgg
     1441 attctccagg atggcagccg atgtcactag aagctcaggg ctgatgttcc tggttggcta
     1501 ttgccaccat ttcagctgat acagtccacc atcactgatt accggcgcgg ttgcggtgga
     1561 tgcacttgaa ccaaaccagt gtatctcctg tgatttgttt tcatgtgtcc gaagacacca
     1621 gggaaacaga gatcctggtg ttgttccttg ttattacgtt ttactgctga aagtaagagg
     1681 tttatttttc tgtcactcag tggagacata ccctggaaag gagaggggaa aaaaaaagca
     1741 aagatacaag agataatcac ctttgcattt gaaagttgag gcccgaggtt tactacaacc
     1801 agcatttttg ccaacggttg gtgattgatt tccatcacgg tgtgtggggt gggaagaagt
     1861 tggctaggaa ccaaaaaggc tgtgctcatg attaaacaca aacctgaagg tatttccttt
     1921 atgtccttgg aaacaggaaa cgagttgtgg ttttcgccag cattcttgta ggagagaatc
     1981 ggggaaggcc ccgaactgcc cccgggcagg gagagcccct caggcctgtt ggtttacaga
     2041 gagacagatg ttacataacc agctccgttg atgcgtggtc accagtgacc agagaagcta
     2101 ctcgatgcaa tgcatctgtt tcagatacag aaatatagag aagatattta ttgaaattta
     2161 agttattgtt atttattacc gttcactaat gaatttctct tttttccctt atttattaaa
     2221 gtttcttttc aaaggtgcca aagtatatgt gctcgcaaaa tgcaaagaaa ggtgacaaaa
     2281 ggaaatttga attgggaaca agggtccatg cttttcaaag tattaaaaag ttttttgcca
     2341 ggcaaaaatc acttacttta cctttttaag aaaatttgtc attaattttc cccagatttc
     2401 agcatttttc ccaattttta tttgtggagc atctcaggca agcccccttt cctggagcag
     2461 cgtgcagaga ccactggcac ttgactttat ttcttccttg ctccattgct gaacagaaat
     2521 gtcgtgggct ccacttcctg ttgtctttaa gctcttagtc ccctccacgt atacctatct
     2581 gtactatgca taaccatatg tagaaaaggt tcagttcctt ttagtaggta gtcctggatt
     2641 taatgctgac ctaaaagtaa tgtcgacaat gctgtcaggt agctgccgtt ctaccgactc
     2701 cctccatccc tgcccaccca ctgccctccc gagaatatgc tggctgccca gtgcagcccg
     2761 ggagacacag gggccttcca gaggtagggt ctaccaggtc ctgtacaacc cctgggctgt
     2821 caccgggggt caacagctgc tgctcctata tacccaaaca cctgacagct ccctggggag
     2881 cagatggctg agaagggtgc tgaggaagcc atattgggac cagccacagc cacacacatg
     2941 gagcctcata cttaggagcg tgctgccttt aaatgaaggt ggtcggggcc agtgcagcgg
     3001 ctcacaccca taatcccaac actttggaaa gccaaggtgg gaggatctct tgaacccagg
     3061 agtttgagac cagcttgggc aacataggga gaccctgtct ctacagaaac tttaaaaatt
     3121 aggcaggcat gatggtgcac acctgtggtc ccagctactc aagaggctga aggaggatca
     3181 cttgagtcca gaaggtcgag gctgcagtga gctgtgatca tgccactgca ctccagccta
     3241 agtgacagtg cggtaccctg tctcaaaaaa aaaaaaaaaa aaaaaaagag gttggagcag
     3301 gaggaagcat aggggcggga acagccacct cctccatgcc ctagattgtg aatttatcgg
     3361 gcagccaaca catgtatgac acactaggcc ctgtattaca gcttgttacg catttcataa
     3421 aagggatttt cattaaggag ataatctatt actacctacc ttagtggcta ctagtataaa
     3481 actatgacag atttagcaat taaatgaaat actggcctcc atcaaataat catagtaaca
     3541 agaagcagca gttaccagac atctgatccc cttcccccaa aatacccaaa ttcttcatgg
     3601 ttctgccctt ctctgtcctt tctgctcccc ttgctcgcct gggaaatgga ggaaaggcct
     3661 tccctctcac actgtcttgg gatcttgctg agaattcaga ctgctcgaaa cagtgacaaa
     3721 ccccagccat ccagtcattc gtggagcaca atttggatgt ggccccaggg gcatctgtcc
     3781 cattcagaga accttggcag tgcgatggcc actgttccca ggcttcaacc tcagtgaccc
     3841 cccccaacaa ctccccatgg agagtccctg cccaaaaaag ctgtaggatc caaggggtgt
     3901 caatagctcg ttcccggcat cacctacaca ccacaagcag gttttaatgg aagcaagttg
     3961 ctccaccaaa tccacaaaag ggtaaagttt gtgatttttc tttatcattg cgatcaccat
     4021 ctgataccgt aaggagtgca cttgtttgga agttctgact tctctgatct gtcttggtcg
     4081 tttgtgttat aaaaccaaag ttctctacag actttatttt tgtacaatat cattttgtaa
     4141 ctttttacaa ataaaaactc atttctattg c
//
