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P39905

- GDNF_HUMAN

UniProt

P39905 - GDNF_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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. 12 interactions.
DIPiDIP-59051N.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2V5EX-ray2.35B111-211[»]
3FUBX-ray2.35B/D78-211[»]
4UX8electron microscopy24.00D/F78-211[»]
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.
GeneTreeiENSGT00520000055559.
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

        10         20         30         40         50
MKLWDVVAVC LVLLHTASAF PLPAGKRPPE APAEDRSLGR RRAPFALSSD
60 70 80 90 100
SNMPEDYPDQ FDDVMDFIQA TIKRLKRSPD KQMAVLPRRE RNRQAAAANP
110 120 130 140 150
ENSRGKGRRG QRGKNRGCVL TAIHLNVTDL GLGYETKEEL IFRYCSGSCD
160 170 180 190 200
AAETTYDKIL KNLSRNRRLV SDKVGQACCR PIAFDDDLSF LDDNLVYHIL
210
RKHSAKRCGC I
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:
EMBLi
GenBanki
DDBJi
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]
CCDS75237.1. [P39905-5]
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]
ENST00000620847; ENSP00000478722; ENSG00000168621. [P39905-5]
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:
EMBLi
GenBanki
DDBJi
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 ]
CCDS75237.1. [P39905-5 ]
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:
PDBei
RCSB PDBi
PDBji
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 [» ]
4UX8 electron microscopy 24.00 D/F 78-211 [» ]
ProteinModelPortali P39905.
SMRi P39905. Positions 109-211.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108936. 12 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 ]
ENST00000620847 ; ENSP00000478722 ; ENSG00000168621 . [P39905-5 ]
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.
GeneTreei ENSGT00520000055559.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 155 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

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