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Glial cell line-derived neurotrophic factor (hGDNF) (Astrocyte-derived trophic factor) (ATF)

 GDNF_HUMAN              Reviewed;         211 AA.
P39905; B7WPK7; O95448; O95449; O95986; Q6FH33; Q96L44; Q9UD32;
Q9UD33; Q9UMV2; Q9UP67; Q9UP97;
01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
01-FEB-1995, sequence version 1.
25-OCT-2017, entry version 181.
RecName: Full=Glial cell line-derived neurotrophic factor;
Short=hGDNF;
AltName: Full=Astrocyte-derived trophic factor;
Short=ATF;
Flags: Precursor;
Name=GDNF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, HOMODIMERIZATION, AND
DISULFIDE BONDS.
PubMed=8493557; DOI=10.1126/science.8493557;
Lin L.-F.H., Doherty D.H., Lile J.D., Bektesh S., Collins F.;
"GDNF: a glial cell line-derived neurotrophic factor for midbrain
dopaminergic neurons.";
Science 260:1130-1132(1993).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
PubMed=7867768; DOI=10.1006/exnr.1994.1218;
Schaar D.G., Sieber B.-A., Sherwood A.C., Dean D., Mendoza G.,
Ramakrishnan L., Dreyfus C.F., Black I.B.;
"Multiple astrocyte transcripts encode nigral trophic factors in rat
and human.";
Exp. Neurol. 130:387-393(1994).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Zhang B., Feng Z., Zhou Y., Peng X., Yuan J., Qiang B.;
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
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.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-187 (ISOFORM 1).
TISSUE=Fetal kidney;
PubMed=10366742; DOI=10.1016/S0169-328X(99)00106-0;
Baecker P.A., Lee W.H., Verity A.N., Eglen R.M., Johnson R.M.;
"Characterization of a promoter for the human glial cell line-derived
neurotrophic factor gene.";
Brain Res. Mol. Brain Res. 69:209-222(1999).
[9]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-88 (ISOFORM 2), NUCLEOTIDE SEQUENCE
[GENOMIC DNA] OF 1-77, AND NUCLEOTIDE SEQUENCE [MRNA] OF 1-59
(ISOFORMS 3 AND 4).
TISSUE=Brain, and Kidney;
Suter-Crazzolara C., Baecker P.A., Lee W.H., Johnson R.M.,
Unsicker K.;
"The human GDNF gene promoter.";
Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases.
[10]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50, SUBCELLULAR LOCATION, AND
INDUCTION.
PubMed=9811930; DOI=10.1093/hmg/7.12.1873;
Grimm L., Holinski-Feder E., Teodoridis J., Scheffer B.,
Schindelhauer D., Meitinger T., Ueffing M.;
"Analysis of the human GDNF gene reveals an inducible promoter, three
exons, a triplet repeat within the 3'-UTR and alternative splice
products.";
Hum. Mol. Genet. 7:1873-1886(1998).
[11]
PROTEIN SEQUENCE OF 87-122; 141-153; 173-184 AND 196-211,
HOMODIMERIZATION, AND DISULFIDE BONDS.
PubMed=8988018; DOI=10.1021/bi9605550;
Haniu M., Hui J., Young Y., Le J., Katta V., Lee R., Shimamoto G.,
Rohde M.F.;
"Glial cell line-derived neurotrophic factor: selective reduction of
the intermolecular disulfide linkage and characterization of its
disulfide structure.";
Biochemistry 35:16799-16805(1996).
[12]
POSSIBLE INVOLVEMENT IN PCC, AND VARIANT PCC TRP-93.
PubMed=9215674; DOI=10.1093/hmg/6.7.1051;
Woodward E.R., Eng C., McMahon R., Voutilainen R., Affara N.A.,
Ponder B.A., Maher E.R.;
"Genetic predisposition to phaeochromocytoma: analysis of candidate
genes GDNF, RET and VHL.";
Hum. Mol. Genet. 6:1051-1056(1997).
[13]
ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3 AND 5), AND TISSUE SPECIFICITY.
PubMed=22081608; DOI=10.1074/jbc.M111.310250;
Airavaara M., Pletnikova O., Doyle M.E., Zhang Y.E., Troncoso J.C.,
Liu Q.R.;
"Identification of novel GDNF isoforms and cis-antisense GDNFOS gene
and their regulation in human middle temporal gyrus of Alzheimer
disease.";
J. Biol. Chem. 286:45093-45102(2011).
[14]
REVIEW ON VARIANTS.
PubMed=9359036;
Hofstra R.M.W., Osinga J., Buys C.H.C.M.;
"Mutations in Hirschsprung disease: when does a mutation contribute to
the phenotype.";
Eur. J. Hum. Genet. 5:180-185(1997).
[15]
X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 78-211, GLYCOSYLATION AT
ASN-126, AND DISULFIDE BONDS.
PubMed=19478429; DOI=10.1107/S1744309109017722;
Parkash V., Goldman A.;
"Comparison of GFL-GFRalpha complexes: further evidence relating GFL
bend angle to RET signalling.";
Acta Crystallogr. F 65:551-558(2009).
[16]
VARIANT HSCR3 SER-154.
PubMed=8968758; DOI=10.1093/hmg/5.12.2023;
Ivanchuk S.M., Myers S.M., Eng C., Mulligan L.M.;
"De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor
complex, in Hirschsprung disease.";
Hum. Mol. Genet. 5:2023-2026(1996).
[17]
VARIANT HSCR3 TRP-93.
PubMed=8896568; DOI=10.1038/ng1196-341;
Angrist M., Bolk S., Halushka M., Lapchak P.A., Chakravarti A.;
"Germline mutations in glial cell line-derived neurotrophic factor
(GDNF) and RET in a Hirschsprung disease patient.";
Nat. Genet. 14:341-344(1996).
[18]
VARIANTS HSCR3 SER-21 AND ASN-150.
PubMed=8896569; DOI=10.1038/ng1196-345;
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.;
"Germline mutations of the RET ligand GDNF are not sufficient to cause
Hirschsprung disease.";
Nat. Genet. 14:345-347(1996).
[19]
VARIANT CCHS TRP-93.
PubMed=9497256; DOI=10.1086/301759;
Amiel J., Salomon R., Attie T., Pelet A., Trang H., Mokhtari M.,
Gaultier C., Munnich A., Lyonnet S.;
"Mutations of the RET-GDNF signaling pathway in Ondine's curse.";
Am. J. Hum. Genet. 62:715-717(1998).
[20]
VARIANT HSCR3 MET-211.
PubMed=10917288; DOI=10.1053/jpsu.2000.7763;
Martucciello G., Ceccherini I., Lerone M., Jasonni V.;
"Pathogenesis of Hirschsprung's disease.";
J. Pediatr. Surg. 35:1017-1025(2000).
-!- FUNCTION: Neurotrophic factor that enhances survival and
morphological differentiation of dopaminergic neurons and
increases their high-affinity dopamine uptake.
{ECO:0000269|PubMed:8493557}.
-!- SUBUNIT: Homodimer; disulfide-linked.
{ECO:0000269|PubMed:19478429, ECO:0000269|PubMed:8493557,
ECO:0000269|PubMed:8988018}.
-!- INTERACTION:
Q6RW13:AGTRAP; NbExp=3; IntAct=EBI-10207709, EBI-741181;
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9811930}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=Ex1_4L;
IsoId=P39905-1; Sequence=Displayed;
Name=2; Synonyms=ATF-1, Ex1_4S, Ex3_4S, HFK2-GDNF;
IsoId=P39905-2; Sequence=VSP_006420;
Name=3; Synonyms=Ex2_4L, HFK3-GDNF;
IsoId=P39905-3; Sequence=VSP_026368;
Name=4; Synonyms=HFK4-GDNF;
IsoId=P39905-4; Sequence=VSP_026368, VSP_006420;
Name=5; Synonyms=Ex4S_5;
IsoId=P39905-5; Sequence=VSP_042298;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: 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. {ECO:0000269|PubMed:22081608,
ECO:0000269|PubMed:7867768}.
-!- INDUCTION: By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and
FGF2. {ECO:0000269|PubMed:9811930}.
-!- DISEASE: 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.
{ECO:0000269|PubMed:10917288, ECO:0000269|PubMed:8896568,
ECO:0000269|PubMed:8896569, ECO:0000269|PubMed:8968758}.
Note=Disease susceptibility is associated with variations
affecting the gene represented in this entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:9497256}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-
producing tumor of chromaffin tissue of the adrenal medulla or
sympathetic paraganglia. The cardinal symptom, reflecting the
increased secretion of epinephrine and norepinephrine, is
hypertension, which may be persistent or intermittent.
{ECO:0000269|PubMed:9215674}. Note=The gene represented in this
entry may act as a disease modifier.
-!- SIMILARITY: Belongs to the TGF-beta family. GDNF subfamily.
{ECO:0000305}.
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EMBL; L19063; AAA67910.1; -; Genomic_DNA.
EMBL; L19062; AAA67910.1; JOINED; Genomic_DNA.
EMBL; AY052832; AAL11017.1; -; mRNA.
EMBL; CR541923; CAG46721.1; -; mRNA.
EMBL; AC008869; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471119; EAW55963.1; -; Genomic_DNA.
EMBL; BC069119; AAH69119.1; -; mRNA.
EMBL; BC069369; AAH69369.1; -; mRNA.
EMBL; BC128108; AAI28109.1; -; mRNA.
EMBL; BC128109; AAI28110.1; -; mRNA.
EMBL; AF053748; AAD43139.1; -; mRNA.
EMBL; AJ001896; CAA05074.1; -; Genomic_DNA.
EMBL; AJ001897; CAA05075.1; -; mRNA.
EMBL; AJ001898; CAA05076.1; -; mRNA.
EMBL; AJ001899; CAA05077.1; -; mRNA.
EMBL; AJ001900; CAA05078.1; -; mRNA.
EMBL; AF063586; AAC98782.1; -; Genomic_DNA.
CCDS; CCDS3922.1; -. [P39905-1]
CCDS; CCDS3923.1; -. [P39905-2]
CCDS; CCDS54845.1; -. [P39905-3]
CCDS; CCDS54846.1; -. [P39905-4]
CCDS; CCDS75237.1; -. [P39905-5]
PIR; B37499; B37499.
RefSeq; NP_000505.1; NM_000514.3. [P39905-1]
RefSeq; NP_001177397.1; NM_001190468.1. [P39905-3]
RefSeq; NP_001177398.1; NM_001190469.1. [P39905-4]
RefSeq; NP_001265027.1; NM_001278098.1. [P39905-5]
RefSeq; NP_954701.1; NM_199231.2. [P39905-2]
RefSeq; XP_011512332.1; XM_011514030.2. [P39905-5]
RefSeq; XP_016864826.1; XM_017009337.1. [P39905-2]
UniGene; Hs.248114; -.
PDB; 2V5E; X-ray; 2.35 A; B=111-211.
PDB; 3FUB; X-ray; 2.35 A; B/D=78-211.
PDB; 4UX8; EM; 24.00 A; D/F=78-211.
PDBsum; 2V5E; -.
PDBsum; 3FUB; -.
PDBsum; 4UX8; -.
ProteinModelPortal; P39905; -.
SMR; P39905; -.
BioGrid; 108936; 13.
DIP; DIP-59051N; -.
IntAct; P39905; 4.
STRING; 9606.ENSP00000409007; -.
DrugBank; DB05066; AV411.
iPTMnet; P39905; -.
PhosphoSitePlus; P39905; -.
BioMuta; GDNF; -.
DMDM; 729567; -.
PaxDb; P39905; -.
PRIDE; P39905; -.
TopDownProteomics; P39905-3; -. [P39905-3]
DNASU; 2668; -.
Ensembl; ENST00000326524; ENSP00000317145; ENSG00000168621. [P39905-1]
Ensembl; ENST00000344622; ENSP00000339703; ENSG00000168621. [P39905-2]
Ensembl; ENST00000381826; ENSP00000371248; ENSG00000168621. [P39905-4]
Ensembl; ENST00000427982; ENSP00000409007; ENSG00000168621. [P39905-3]
Ensembl; ENST00000515058; ENSP00000425928; ENSG00000168621. [P39905-2]
Ensembl; ENST00000620847; ENSP00000478722; ENSG00000168621. [P39905-5]
GeneID; 2668; -.
KEGG; hsa:2668; -.
UCSC; uc011cpd.2; human. [P39905-1]
CTD; 2668; -.
DisGeNET; 2668; -.
EuPathDB; HostDB:ENSG00000168621.14; -.
GeneCards; GDNF; -.
GeneReviews; GDNF; -.
HGNC; HGNC:4232; GDNF.
HPA; CAB005210; -.
HPA; HPA070283; -.
MalaCards; GDNF; -.
MIM; 171300; phenotype.
MIM; 209880; phenotype.
MIM; 600837; gene.
MIM; 613711; phenotype.
neXtProt; NX_P39905; -.
OpenTargets; ENSG00000168621; -.
Orphanet; 388; Hirschsprung disease.
PharmGKB; PA28644; -.
eggNOG; ENOG410IGT5; Eukaryota.
eggNOG; ENOG4111I3D; LUCA.
GeneTree; ENSGT00520000055559; -.
HOVERGEN; HBG106680; -.
InParanoid; P39905; -.
KO; K05452; -.
OMA; AETMYDK; -.
OrthoDB; EOG091G0P1K; -.
PhylomeDB; P39905; -.
TreeFam; TF332366; -.
Reactome; R-HSA-419037; NCAM1 interactions.
Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
Reactome; R-HSA-8853659; RET signaling.
SignaLink; P39905; -.
SIGNOR; P39905; -.
EvolutionaryTrace; P39905; -.
GeneWiki; Glial_cell_line-derived_neurotrophic_factor; -.
GenomeRNAi; 2668; -.
PRO; PR:P39905; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000168621; -.
ExpressionAtlas; P39905; baseline and differential.
Genevisible; P39905; HS.
GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
GO; GO:0005088; F:Ras guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0005102; F:receptor binding; TAS:ProtInc.
GO; GO:0008344; P:adult locomotory behavior; TAS:BHF-UCL.
GO; GO:0007411; P:axon guidance; TAS:Reactome.
GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
GO; GO:0048484; P:enteric nervous system development; ISS:UniProtKB.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
GO; GO:0003337; P:mesenchymal to epithelial transition involved in metanephros morphogenesis; IEA:Ensembl.
GO; GO:0001656; P:metanephros development; ISS:UniProtKB.
GO; GO:0048255; P:mRNA stabilization; IDA:BHF-UCL.
GO; GO:0043066; P:negative regulation of apoptotic process; TAS:ProtInc.
GO; GO:2001240; P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; IDA:UniProtKB.
GO; GO:0043524; P:negative regulation of neuron apoptotic process; IDA:UniProtKB.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0001755; P:neural crest cell migration; IDA:MGI.
GO; GO:0031175; P:neuron projection development; IDA:MGI.
GO; GO:0001759; P:organ induction; IEA:Ensembl.
GO; GO:0030432; P:peristalsis; ISS:UniProtKB.
GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; IDA:UniProtKB.
GO; GO:0045597; P:positive regulation of cell differentiation; IGI:MGI.
GO; GO:0008284; P:positive regulation of cell proliferation; IDA:MGI.
GO; GO:0033603; P:positive regulation of dopamine secretion; TAS:BHF-UCL.
GO; GO:0072108; P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; IEA:Ensembl.
GO; GO:0032770; P:positive regulation of monooxygenase activity; IDA:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
GO; GO:0072107; P:positive regulation of ureteric bud formation; IDA:UniProtKB.
GO; GO:0021784; P:postganglionic parasympathetic fiber development; ISS:UniProtKB.
GO; GO:0001941; P:postsynaptic membrane organization; IEA:Ensembl.
GO; GO:0051584; P:regulation of dopamine uptake involved in synaptic transmission; IDA:UniProtKB.
GO; GO:0010468; P:regulation of gene expression; IGI:MGI.
GO; GO:0060688; P:regulation of morphogenesis of a branching structure; ISS:UniProtKB.
GO; GO:2000736; P:regulation of stem cell differentiation; TAS:ParkinsonsUK-UCL.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0048485; P:sympathetic nervous system development; ISS:UniProtKB.
GO; GO:0060676; P:ureteric bud formation; IEA:Ensembl.
Gene3D; 2.10.90.10; -; 1.
InterPro; IPR029034; Cystine-knot_cytokine.
InterPro; IPR016649; GDNF.
InterPro; IPR001839; TGF-b_C.
Pfam; PF00019; TGF_beta; 1.
PIRSF; PIRSF016238; GDNF; 1.
SMART; SM00204; TGFB; 1.
SUPFAM; SSF57501; SSF57501; 1.
PROSITE; PS51362; TGF_BETA_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing;
Cleavage on pair of basic residues; Complete proteome;
Direct protein sequencing; Disease mutation; Disulfide bond;
Glycoprotein; Growth factor; Hirschsprung disease; Polymorphism;
Reference proteome; Secreted; Signal.
SIGNAL 1 19 {ECO:0000255}.
PROPEP 20 75 {ECO:0000250}.
/FTId=PRO_0000034004.
CHAIN 78 211 Glial cell line-derived neurotrophic
factor.
/FTId=PRO_0000034005.
CARBOHYD 126 126 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19478429}.
CARBOHYD 162 162 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 118 179 {ECO:0000269|PubMed:8988018}.
DISULFID 145 208 {ECO:0000269|PubMed:8988018}.
DISULFID 149 210 {ECO:0000269|PubMed:8988018}.
DISULFID 178 178 Interchain.
VAR_SEQ 1 52 Missing (in isoform 5). {ECO:0000305}.
/FTId=VSP_042298.
VAR_SEQ 1 1 M -> MQSLPNSNGAAAGRDFKM (in isoform 3 and
isoform 4). {ECO:0000303|Ref.9}.
/FTId=VSP_026368.
VAR_SEQ 25 51 GKRPPEAPAEDRSLGRRRAPFALSSDS -> A (in
isoform 2 and isoform 4).
{ECO:0000303|PubMed:7867768,
ECO:0000303|Ref.3, ECO:0000303|Ref.9}.
/FTId=VSP_006420.
VARIANT 21 21 P -> S (in HSCR3; unknown pathological
significance; dbSNP:rs777451569).
{ECO:0000269|PubMed:8896569}.
/FTId=VAR_009494.
VARIANT 93 93 R -> W (in HSCR3, CCHS and PCC; unknown
pathological significance;
dbSNP:rs36119840).
{ECO:0000269|PubMed:8896568,
ECO:0000269|PubMed:9215674,
ECO:0000269|PubMed:9497256}.
/FTId=VAR_009495.
VARIANT 150 150 D -> N (in HSCR3; unknown pathological
significance; dbSNP:rs76466003).
{ECO:0000269|PubMed:8896569}.
/FTId=VAR_009496.
VARIANT 154 154 T -> S (in HSCR3; sporadic form;
dbSNP:rs104893891).
{ECO:0000269|PubMed:8968758}.
/FTId=VAR_009497.
VARIANT 211 211 I -> M (in HSCR3; dbSNP:rs121918536).
{ECO:0000269|PubMed:10917288}.
/FTId=VAR_018152.
TURN 114 117 {ECO:0000244|PDB:2V5E}.
STRAND 119 126 {ECO:0000244|PDB:2V5E}.
HELIX 127 130 {ECO:0000244|PDB:2V5E}.
STRAND 139 147 {ECO:0000244|PDB:2V5E}.
HELIX 155 165 {ECO:0000244|PDB:2V5E}.
STRAND 168 173 {ECO:0000244|PDB:2V5E}.
STRAND 178 184 {ECO:0000244|PDB:2V5E}.
STRAND 188 191 {ECO:0000244|PDB:2V5E}.
STRAND 197 200 {ECO:0000244|PDB:2V5E}.
STRAND 204 211 {ECO:0000244|PDB:2V5E}.
SEQUENCE 211 AA; 23720 MW; A0D1EBF77FC82691 CRC64;
MKLWDVVAVC LVLLHTASAF PLPAGKRPPE APAEDRSLGR RRAPFALSSD SNMPEDYPDQ
FDDVMDFIQA TIKRLKRSPD KQMAVLPRRE RNRQAAAANP ENSRGKGRRG QRGKNRGCVL
TAIHLNVTDL GLGYETKEEL IFRYCSGSCD AAETTYDKIL KNLSRNRRLV SDKVGQACCR
PIAFDDDLSF LDDNLVYHIL RKHSAKRCGC I


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