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P39905

- GDNF_HUMAN

UniProt

P39905 - GDNF_HUMAN

Protein

Glial cell line-derived neurotrophic factor

Gene

GDNF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    Functioni

    Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.1 Publication

    GO - Molecular functioni

    1. protein homodimerization activity Source: UniProtKB
    2. receptor binding Source: ProtInc

    GO - Biological processi

    1. adult locomotory behavior Source: BHF-UCL
    2. axon guidance Source: Reactome
    3. branching involved in ureteric bud morphogenesis Source: UniProtKB
    4. enteric nervous system development Source: UniProtKB
    5. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
    6. metanephros development Source: UniProtKB
    7. mRNA stabilization Source: BHF-UCL
    8. negative regulation of apoptotic process Source: ProtInc
    9. negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: UniProtKB
    10. negative regulation of neuron apoptotic process Source: UniProtKB
    11. nervous system development Source: ProtInc
    12. neural crest cell migration Source: MGI
    13. neuron projection development Source: MGI
    14. organ induction Source: Ensembl
    15. peristalsis Source: UniProtKB
    16. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    17. positive regulation of dopamine secretion Source: BHF-UCL
    18. positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
    19. positive regulation of monooxygenase activity Source: BHF-UCL
    20. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    21. positive regulation of ureteric bud formation Source: UniProtKB
    22. postganglionic parasympathetic nervous system development Source: UniProtKB
    23. postsynaptic membrane organization Source: Ensembl
    24. regulation of dopamine uptake involved in synaptic transmission Source: UniProtKB
    25. regulation of morphogenesis of a branching structure Source: UniProtKB
    26. signal transduction Source: ProtInc
    27. sympathetic nervous system development Source: UniProtKB
    28. ureteric bud formation Source: Ensembl

    Keywords - Molecular functioni

    Growth factor

    Enzyme and pathway databases

    ReactomeiREACT_18312. NCAM1 interactions.
    SignaLinkiP39905.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glial cell line-derived neurotrophic factor
    Short name:
    hGDNF
    Alternative name(s):
    Astrocyte-derived trophic factor
    Short name:
    ATF
    Gene namesi
    Name:GDNF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4232. GDNF.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hirschsprung disease 3 (HSCR3) [MIM:613711]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.4 Publications
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211P → S in HSCR3; unknown pathological significance. 1 Publication
    VAR_009494
    Natural varianti93 – 931R → W in HSCR3 and CCHS; associated to a RET mutation; unknown pathological significance. 2 Publications
    Corresponds to variant rs36119840 [ dbSNP | Ensembl ].
    VAR_009495
    Natural varianti150 – 1501D → N in HSCR3; unknown pathological significance. 1 Publication
    Corresponds to variant rs76466003 [ dbSNP | Ensembl ].
    VAR_009496
    Natural varianti154 – 1541T → S in HSCR3; sporadic form. 1 Publication
    VAR_009497
    Natural varianti211 – 2111I → M in HSCR3. 1 Publication
    VAR_018152
    Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931R → W in HSCR3 and CCHS; associated to a RET mutation; unknown pathological significance. 2 Publications
    Corresponds to variant rs36119840 [ dbSNP | Ensembl ].
    VAR_009495

    Keywords - Diseasei

    Disease mutation, Hirschsprung disease

    Organism-specific databases

    MIMi209880. phenotype.
    613711. phenotype.
    Orphaneti388. Hirschsprung disease.
    661. Ondine syndrome.
    PharmGKBiPA28644.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919Sequence AnalysisAdd
    BLAST
    Propeptidei20 – 7556By similarityPRO_0000034004Add
    BLAST
    Chaini78 – 211134Glial cell line-derived neurotrophic factorPRO_0000034005Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi118 ↔ 179
    Glycosylationi126 – 1261N-linked (GlcNAc...)1 Publication
    Disulfide bondi145 ↔ 208
    Disulfide bondi149 ↔ 210
    Glycosylationi162 – 1621N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi178 – 178Interchain

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP39905.
    PRIDEiP39905.

    Expressioni

    Tissue specificityi

    In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest expression of isoform 3 is found in pancreatic islets. Isoform 5 is expressed at very low levels in putamen, nucleus accumbens, prefrontal cortex, amygdala, hypothalamus and intestine. Isoform 3 is up-regulated in the middle temporal gyrus of Alzheimer disease patients while isoform 2 shows no change.2 Publications

    Inductioni

    By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2.1 Publication

    Gene expression databases

    BgeeiP39905.
    GenevestigatoriP39905.

    Organism-specific databases

    HPAiCAB005210.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.3 Publications

    Protein-protein interaction databases

    BioGridi108936. 3 interactions.
    DIPiDIP-59051N.

    Structurei

    Secondary structure

    1
    211
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni114 – 1174
    Beta strandi119 – 1268
    Helixi127 – 1304
    Beta strandi139 – 1479
    Helixi155 – 16511
    Beta strandi168 – 1736
    Beta strandi178 – 1847
    Beta strandi188 – 1914
    Beta strandi197 – 2004
    Beta strandi204 – 2118

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2V5EX-ray2.35B111-211[»]
    3FUBX-ray2.35B/D78-211[»]
    ProteinModelPortaliP39905.
    SMRiP39905. Positions 109-211.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP39905.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TGF-beta family. GDNF subfamily.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG40754.
    HOVERGENiHBG106680.
    InParanoidiP39905.
    KOiK05452.
    OMAiIMSSEVQ.
    OrthoDBiEOG7BS4BR.
    PhylomeDBiP39905.
    TreeFamiTF332366.

    Family and domain databases

    Gene3Di2.10.90.10. 1 hit.
    InterProiIPR029034. Cystine-knot_cytokine.
    IPR016649. GDNF.
    IPR001839. TGF-b_C.
    [Graphical view]
    PfamiPF00019. TGF_beta. 1 hit.
    [Graphical view]
    PIRSFiPIRSF016238. GDNF. 1 hit.
    SMARTiSM00204. TGFB. 1 hit.
    [Graphical view]
    SUPFAMiSSF57501. SSF57501. 1 hit.
    PROSITEiPS51362. TGF_BETA_2. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P39905-1) [UniParc]FASTAAdd to Basket

    Also known as: Ex1_4L

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKLWDVVAVC LVLLHTASAF PLPAGKRPPE APAEDRSLGR RRAPFALSSD    50
    SNMPEDYPDQ FDDVMDFIQA TIKRLKRSPD KQMAVLPRRE RNRQAAAANP 100
    ENSRGKGRRG QRGKNRGCVL TAIHLNVTDL GLGYETKEEL IFRYCSGSCD 150
    AAETTYDKIL KNLSRNRRLV SDKVGQACCR PIAFDDDLSF LDDNLVYHIL 200
    RKHSAKRCGC I 211
    Length:211
    Mass (Da):23,720
    Last modified:February 1, 1995 - v1
    Checksum:iA0D1EBF77FC82691
    GO
    Isoform 2 (identifier: P39905-2) [UniParc]FASTAAdd to Basket

    Also known as: ATF-1, Ex1_4S, Ex3_4S, HFK2-GDNF

    The sequence of this isoform differs from the canonical sequence as follows:
         25-51: GKRPPEAPAEDRSLGRRRAPFALSSDS → A

    Show »
    Length:185
    Mass (Da):20,885
    Checksum:i1988C50DA5EA1B10
    GO
    Isoform 3 (identifier: P39905-3) [UniParc]FASTAAdd to Basket

    Also known as: Ex2_4L, HFK3-GDNF

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MQSLPNSNGAAAGRDFKM

    Show »
    Length:228
    Mass (Da):25,466
    Checksum:i5BAAAC69FEDDBA4C
    GO
    Isoform 4 (identifier: P39905-4) [UniParc]FASTAAdd to Basket

    Also known as: HFK4-GDNF

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MQSLPNSNGAAAGRDFKM
         25-51: GKRPPEAPAEDRSLGRRRAPFALSSDS → A

    Show »
    Length:202
    Mass (Da):22,631
    Checksum:i2CAFBC675D40CF2F
    GO
    Isoform 5 (identifier: P39905-5) [UniParc]FASTAAdd to Basket

    Also known as: Ex4S_5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-52: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:159
    Mass (Da):18,123
    Checksum:i97CFDCE97459E34B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211P → S in HSCR3; unknown pathological significance. 1 Publication
    VAR_009494
    Natural varianti93 – 931R → W in HSCR3 and CCHS; associated to a RET mutation; unknown pathological significance. 2 Publications
    Corresponds to variant rs36119840 [ dbSNP | Ensembl ].
    VAR_009495
    Natural varianti150 – 1501D → N in HSCR3; unknown pathological significance. 1 Publication
    Corresponds to variant rs76466003 [ dbSNP | Ensembl ].
    VAR_009496
    Natural varianti154 – 1541T → S in HSCR3; sporadic form. 1 Publication
    VAR_009497
    Natural varianti211 – 2111I → M in HSCR3. 1 Publication
    VAR_018152

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5252Missing in isoform 5. CuratedVSP_042298Add
    BLAST
    Alternative sequencei1 – 11M → MQSLPNSNGAAAGRDFKM in isoform 3 and isoform 4. 1 PublicationVSP_026368
    Alternative sequencei25 – 5127GKRPP…LSSDS → A in isoform 2 and isoform 4. 3 PublicationsVSP_006420Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L19063, L19062 Genomic DNA. Translation: AAA67910.1.
    AY052832 mRNA. Translation: AAL11017.1.
    CR541923 mRNA. Translation: CAG46721.1.
    AC008869 Genomic DNA. No translation available.
    CH471119 Genomic DNA. Translation: EAW55963.1.
    BC069119 mRNA. Translation: AAH69119.1.
    BC069369 mRNA. Translation: AAH69369.1.
    BC128108 mRNA. Translation: AAI28109.1.
    BC128109 mRNA. Translation: AAI28110.1.
    AF053748 mRNA. Translation: AAD43139.1.
    AJ001896 Genomic DNA. Translation: CAA05074.1.
    AJ001897 mRNA. Translation: CAA05075.1.
    AJ001898 mRNA. Translation: CAA05076.1.
    AJ001899 mRNA. Translation: CAA05077.1.
    AJ001900 mRNA. Translation: CAA05078.1.
    AF063586 Genomic DNA. Translation: AAC98782.1.
    CCDSiCCDS3922.1. [P39905-1]
    CCDS3923.1. [P39905-2]
    CCDS54845.1. [P39905-3]
    CCDS54846.1. [P39905-4]
    PIRiB37499.
    RefSeqiNP_000505.1. NM_000514.3. [P39905-1]
    NP_001177397.1. NM_001190468.1. [P39905-3]
    NP_001177398.1. NM_001190469.1. [P39905-4]
    NP_001265027.1. NM_001278098.1. [P39905-5]
    NP_954701.1. NM_199231.2. [P39905-2]
    UniGeneiHs.248114.

    Genome annotation databases

    EnsembliENST00000326524; ENSP00000317145; ENSG00000168621. [P39905-1]
    ENST00000344622; ENSP00000339703; ENSG00000168621. [P39905-2]
    ENST00000381826; ENSP00000371248; ENSG00000168621. [P39905-4]
    ENST00000427982; ENSP00000409007; ENSG00000168621. [P39905-3]
    ENST00000502572; ENSP00000423557; ENSG00000168621.
    ENST00000510177; ENSP00000424592; ENSG00000168621.
    ENST00000515058; ENSP00000425928; ENSG00000168621. [P39905-2]
    GeneIDi2668.
    KEGGihsa:2668.
    UCSCiuc011cpd.2. human. [P39905-1]
    uc011cpe.2. human. [P39905-2]
    uc011cpg.2. human. [P39905-3]
    uc011cph.2. human. [P39905-4]

    Polymorphism databases

    DMDMi729567.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    R&D Systems' cytokine mini-reviews: GDNF

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L19063 , L19062 Genomic DNA. Translation: AAA67910.1 .
    AY052832 mRNA. Translation: AAL11017.1 .
    CR541923 mRNA. Translation: CAG46721.1 .
    AC008869 Genomic DNA. No translation available.
    CH471119 Genomic DNA. Translation: EAW55963.1 .
    BC069119 mRNA. Translation: AAH69119.1 .
    BC069369 mRNA. Translation: AAH69369.1 .
    BC128108 mRNA. Translation: AAI28109.1 .
    BC128109 mRNA. Translation: AAI28110.1 .
    AF053748 mRNA. Translation: AAD43139.1 .
    AJ001896 Genomic DNA. Translation: CAA05074.1 .
    AJ001897 mRNA. Translation: CAA05075.1 .
    AJ001898 mRNA. Translation: CAA05076.1 .
    AJ001899 mRNA. Translation: CAA05077.1 .
    AJ001900 mRNA. Translation: CAA05078.1 .
    AF063586 Genomic DNA. Translation: AAC98782.1 .
    CCDSi CCDS3922.1. [P39905-1 ]
    CCDS3923.1. [P39905-2 ]
    CCDS54845.1. [P39905-3 ]
    CCDS54846.1. [P39905-4 ]
    PIRi B37499.
    RefSeqi NP_000505.1. NM_000514.3. [P39905-1 ]
    NP_001177397.1. NM_001190468.1. [P39905-3 ]
    NP_001177398.1. NM_001190469.1. [P39905-4 ]
    NP_001265027.1. NM_001278098.1. [P39905-5 ]
    NP_954701.1. NM_199231.2. [P39905-2 ]
    UniGenei Hs.248114.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2V5E X-ray 2.35 B 111-211 [» ]
    3FUB X-ray 2.35 B/D 78-211 [» ]
    ProteinModelPortali P39905.
    SMRi P39905. Positions 109-211.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108936. 3 interactions.
    DIPi DIP-59051N.

    Polymorphism databases

    DMDMi 729567.

    Proteomic databases

    PaxDbi P39905.
    PRIDEi P39905.

    Protocols and materials databases

    DNASUi 2668.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000326524 ; ENSP00000317145 ; ENSG00000168621 . [P39905-1 ]
    ENST00000344622 ; ENSP00000339703 ; ENSG00000168621 . [P39905-2 ]
    ENST00000381826 ; ENSP00000371248 ; ENSG00000168621 . [P39905-4 ]
    ENST00000427982 ; ENSP00000409007 ; ENSG00000168621 . [P39905-3 ]
    ENST00000502572 ; ENSP00000423557 ; ENSG00000168621 .
    ENST00000510177 ; ENSP00000424592 ; ENSG00000168621 .
    ENST00000515058 ; ENSP00000425928 ; ENSG00000168621 . [P39905-2 ]
    GeneIDi 2668.
    KEGGi hsa:2668.
    UCSCi uc011cpd.2. human. [P39905-1 ]
    uc011cpe.2. human. [P39905-2 ]
    uc011cpg.2. human. [P39905-3 ]
    uc011cph.2. human. [P39905-4 ]

    Organism-specific databases

    CTDi 2668.
    GeneCardsi GC05M037812.
    GeneReviewsi GDNF.
    HGNCi HGNC:4232. GDNF.
    HPAi CAB005210.
    MIMi 209880. phenotype.
    600837. gene.
    613711. phenotype.
    neXtProti NX_P39905.
    Orphaneti 388. Hirschsprung disease.
    661. Ondine syndrome.
    PharmGKBi PA28644.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40754.
    HOVERGENi HBG106680.
    InParanoidi P39905.
    KOi K05452.
    OMAi IMSSEVQ.
    OrthoDBi EOG7BS4BR.
    PhylomeDBi P39905.
    TreeFami TF332366.

    Enzyme and pathway databases

    Reactomei REACT_18312. NCAM1 interactions.
    SignaLinki P39905.

    Miscellaneous databases

    EvolutionaryTracei P39905.
    GeneWikii Glial_cell_line-derived_neurotrophic_factor.
    GenomeRNAii 2668.
    NextBioi 10524.
    PROi P39905.
    SOURCEi Search...

    Gene expression databases

    Bgeei P39905.
    Genevestigatori P39905.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    IPR016649. GDNF.
    IPR001839. TGF-b_C.
    [Graphical view ]
    Pfami PF00019. TGF_beta. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF016238. GDNF. 1 hit.
    SMARTi SM00204. TGFB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57501. SSF57501. 1 hit.
    PROSITEi PS51362. TGF_BETA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons."
      Lin L.-F.H., Doherty D.H., Lile J.D., Bektesh S., Collins F.
      Science 260:1130-1132(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, HOMODIMERIZATION, DISULFIDE BONDS.
    2. "Multiple astrocyte transcripts encode nigral trophic factors in rat and human."
      Schaar D.G., Sieber B.-A., Sherwood A.C., Dean D., Mendoza G., Ramakrishnan L., Dreyfus C.F., Black I.B.
      Exp. Neurol. 130:387-393(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
    3. Zhang B., Feng Z., Zhou Y., Peng X., Yuan J., Qiang B.
      Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    8. "Characterization of a promoter for the human glial cell line-derived neurotrophic factor gene."
      Baecker P.A., Lee W.H., Verity A.N., Eglen R.M., Johnson R.M.
      Brain Res. Mol. Brain Res. 69:209-222(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-187 (ISOFORM 1).
      Tissue: Fetal kidney.
    9. "The human GDNF gene promoter."
      Suter-Crazzolara C., Baecker P.A., Lee W.H., Johnson R.M., Unsicker K.
      Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-88 (ISOFORM 2), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-77, NUCLEOTIDE SEQUENCE [MRNA] OF 1-59 (ISOFORMS 3 AND 4).
      Tissue: Brain and Kidney.
    10. "Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products."
      Grimm L., Holinski-Feder E., Teodoridis J., Scheffer B., Schindelhauer D., Meitinger T., Ueffing M.
      Hum. Mol. Genet. 7:1873-1886(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50, SUBCELLULAR LOCATION, INDUCTION.
    11. "Glial cell line-derived neurotrophic factor: selective reduction of the intermolecular disulfide linkage and characterization of its disulfide structure."
      Haniu M., Hui J., Young Y., Le J., Katta V., Lee R., Shimamoto G., Rohde M.F.
      Biochemistry 35:16799-16805(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 87-122; 141-153; 173-184 AND 196-211, HOMODIMERIZATION, DISULFIDE BONDS.
    12. "Identification of novel GDNF isoforms and cis-antisense GDNFOS gene and their regulation in human middle temporal gyrus of Alzheimer disease."
      Airavaara M., Pletnikova O., Doyle M.E., Zhang Y.E., Troncoso J.C., Liu Q.R.
      J. Biol. Chem. 286:45093-45102(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3 AND 5), TISSUE SPECIFICITY.
    13. "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
      Hofstra R.M.W., Osinga J., Buys C.H.C.M.
      Eur. J. Hum. Genet. 5:180-185(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    14. "Comparison of GFL-GFRalpha complexes: further evidence relating GFL bend angle to RET signalling."
      Parkash V., Goldman A.
      Acta Crystallogr. F 65:551-558(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 78-211, GLYCOSYLATION AT ASN-126, DISULFIDE BONDS.
    15. "De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease."
      Ivanchuk S.M., Myers S.M., Eng C., Mulligan L.M.
      Hum. Mol. Genet. 5:2023-2026(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HSCR3 SER-154.
    16. "Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient."
      Angrist M., Bolk S., Halushka M., Lapchak P.A., Chakravarti A.
      Nat. Genet. 14:341-344(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HSCR3 TRP-93.
    17. "Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease."
      Salomon R., Attie T., Pelet A., Bidaud C., Eng C., Amiel J., Sarnacki S., Goulet O., Ricour C., Nihoul-Fekete C., Munnich A., Lyonnet S.
      Nat. Genet. 14:345-347(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HSCR3 SER-21 AND ASN-150.
    18. Cited for: VARIANT CCHS TRP-93.
    19. Cited for: VARIANT HSCR3 MET-211.

    Entry informationi

    Entry nameiGDNF_HUMAN
    AccessioniPrimary (citable) accession number: P39905
    Secondary accession number(s): B7WPK7
    , O95448, O95449, O95986, Q6FH33, Q96L44, Q9UD32, Q9UD33, Q9UMV2, Q9UP67, Q9UP97
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 153 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3