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This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]
NUCB1 (Nucleobindin 1) is a Protein Coding gene. Diseases associated with NUCB1 include Ataxia, Sensory, 1, Autosomal Dominant and Cone-Rod Dystrophy 10. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NUCB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001965 | G-protein alpha-subunit binding | ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005085 | guanyl-nucleotide exchange factor activity | ISS | -- |
GO:0005509 | calcium ion binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 24136289 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | TAS,HDA | 16502470 |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007264 | small GTPase mediated signal transduction | ISS | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
GO:0044267 | cellular protein metabolic process | TAS | -- |
GO:0050790 | regulation of catalytic activity | IEA | -- |
GO:0072718 | response to cisplatin | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium citrate | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Calcium Phosphate | Approved | Pharma | Target, ligand | 0 | ||
Calcium phosphate dihydrate | Approved | Pharma | Target | 0 | ||
S,S-Propylthiocysteine | Experimental | Pharma | Target | 0 | ||
Thymidine-3',5'-Diphosphate | Experimental | Pharma | Target | 0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 13a | · | 13b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nucb1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nucb1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NUCB1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NUCB1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUCB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nucb1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23574 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nucb1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | NUCB1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nucb-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6711 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs200372110 | - |
p.Arg399Gln |
|||
rs35456905 | - |
p.Met338Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
ataxia, sensory, 1, autosomal dominant |
|
|
cone-rod dystrophy 10 |
|
|