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This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
GPHN (Gephyrin) is a Protein Coding gene. Diseases associated with GPHN include Molybdenum Cofactor Deficiency, Complementation Group C and Hyperekplexia. Among its related pathways are Neuroscience and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 21094642 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008940 | nitrate reductase activity | IMP | 9990024 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0014069 | postsynaptic density | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Metabolism |
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3 | Neuroscience | ||
4 | Folate biosynthesis | ||
5 | GABAergic synapse |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006777 | Mo-molybdopterin cofactor biosynthetic process | IEA,IBA | 21873635 |
GO:0007529 | establishment of synaptic specificity at neuromuscular junction | IBA | 21873635 |
GO:0008152 | metabolic process | IEA | -- |
GO:0010038 | response to metal ion | IMP | 9990024 |
GO:0018315 | molybdenum incorporation into molybdenum-molybdopterin complex | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
propanoic acid | Approved, Vet_approved | Pharma | Agonist, Full agonist, Target | 0 | ||
Molybdenum | Approved | Pharma | 23 | |||
Copper | Approved, Investigational | Pharma | 249 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Adenylyl-molybdopterin |
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molybdate |
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pyrophosphate |
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14000-31-8 |
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Tungsten |
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7440-33-7 |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
ExUns: | 23 | ^ | 24 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPHN 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GPHN 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPHN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPHN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gphn 30 |
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||
Mouse (Mus musculus) |
Mammalia | Gphn 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPHN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPHN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GPHN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gphn 30 |
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||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.29239 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | gphnb 30 31 |
|
OneToOne | |
wufj59a01 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12530 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002800 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | cin 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | moc-2 31 32 |
|
OneToMany | |
moc-1 31 |
|
OneToMany | |||
lin-46 31 |
|
OneToMany | |||
Barley (Hordeum vulgare) |
Liliopsida | Hv.12358 30 |
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||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09746 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645767 | Uncertain Significance: Molybdenum cofactor deficiency, complementation group C | 66,916,000(+) | C/T | INTRON_VARIANT | |
653059 | Pathogenic: Molybdenum cofactor deficiency, complementation group C | 67,122,295(+) | C/T | NONSENSE | |
653750 | Uncertain Significance: Molybdenum cofactor deficiency, complementation group C | 67,165,159(+) | T/C | INTRON_VARIANT | |
655988 | Uncertain Significance: Molybdenum cofactor deficiency, complementation group C | 67,110,179(+) | A/C | MISSENSE_VARIANT | |
664311 | Uncertain Significance: Molybdenum cofactor deficiency, complementation group C | 67,058,675(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
molybdenum cofactor deficiency, complementation group c |
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hyperekplexia |
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hyperekplexia 1 |
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molybdenum cofactor deficiency |
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stiff-person syndrome |
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