InnateDB Protein
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IDBP-17179.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GDNF
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Protein Name
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glial cell derived neurotrophic factor
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Synonyms
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ATF1; ATF2; HFB1-GDNF; HSCR3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000339703
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InnateDB Gene
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IDBG-17169 (GDNF)
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Protein Structure
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Function |
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake. {ECO:0000269PubMed:8493557}.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:9811930}.
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Disease Associations |
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:0000269PubMed:10917288, ECO:0000269PubMed:8896568, ECO:0000269PubMed:8896569, ECO:0000269PubMed:8968758}. Note=The disease may be caused by mutations affecting the gene represented in this entry.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:0000269PubMed:9497256}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:22081608, ECO:0000269PubMed:7867768}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0001656
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metanephros development
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GO:0001658
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branching involved in ureteric bud morphogenesis
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GO:0001755
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neural crest cell migration
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GO:0007165
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signal transduction
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GO:0007399
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nervous system development
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GO:0007411
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axon guidance
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GO:0008344
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adult locomotory behavior
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GO:0021784
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postganglionic parasympathetic nervous system development
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GO:0030432
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peristalsis
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GO:0031175
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neuron projection development
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GO:0032770
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positive regulation of monooxygenase activity
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GO:0033603
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positive regulation of dopamine secretion
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GO:0043066
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negative regulation of apoptotic process
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GO:0043524
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negative regulation of neuron apoptotic process
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048255
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mRNA stabilization
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GO:0048484
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enteric nervous system development
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GO:0048485
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sympathetic nervous system development
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GO:0051584
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regulation of dopamine uptake involved in synaptic transmission
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GO:0060688
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regulation of morphogenesis of a branching structure
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GO:0072107
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positive regulation of ureteric bud formation
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GO:0090190
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positive regulation of branching involved in ureteric bud morphogenesis
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GO:2001240
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negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
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Cellular Component |
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PDB ID |
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InterPro |
IPR001839
Transforming growth factor-beta, C-terminal
IPR029034
Cystine-knot cytokine
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PFAM |
PF00019
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PRINTS |
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PIRSF |
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SMART |
SM00204
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TIGRFAMs |
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Modification |
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SwissProt |
P39905
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PhosphoSite |
PhosphoSite-P39905
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2668
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UniGene |
Hs.609874
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RefSeq |
NP_954701
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HUGO |
HGNC:4232
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OMIM |
600837
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CCDS |
CCDS3923
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HPRD |
02906
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IMGT |
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EMBL |
AC008869
AF053748
AF063586
AJ001896
AJ001897
AJ001898
AJ001899
AJ001900
AY052832
BC069119
BC069369
BC128108
BC128109
CH471119
CR541923
L19062
L19063
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GenPept |
AAA67910
AAC98782
AAD43139
AAH69119
AAH69369
AAI28109
AAI28110
AAL11017
CAA05074
CAA05075
CAA05076
CAA05077
CAA05078
CAG46721
EAW55963
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