InnateDB Protein
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IDBP-60466.6
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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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CABP4
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Protein Name
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calcium binding protein 4
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000324960
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InnateDB Gene
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IDBG-60464 (CABP4)
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Protein Structure
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Function |
Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:19338761}. Note=Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors. {ECO:0000250}.
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Disease Associations |
Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269PubMed:16960802}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in retina and in the inner hair cells (IHC) of the cochlea.
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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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
P57796
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PhosphoSite |
PhosphoSite-P57796
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57010
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UniGene |
Hs.734577
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RefSeq |
NP_660201
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HUGO |
HGNC:1386
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OMIM |
608965
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CCDS |
CCDS8166
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HPRD |
12344
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IMGT |
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EMBL |
AC005849
AY039217
BC033167
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GenPept |
AAH33167
AAK83462
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