Human Gene CABP4 (ENST00000325656.7) from GENCODE V44
Description: Homo sapiens calcium binding protein 4 (CABP4), transcript variant 1, mRNA. (from RefSeq NM_145200) RefSeq Summary (NM_145200): This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. Gencode Transcript: ENST00000325656.7 Gencode Gene: ENSG00000175544.14 Transcript (Including UTRs) Position: hg38 chr11:67,455,354-67,461,752 Size: 6,399 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr11:67,455,424-67,458,659 Size: 3,236 Coding Exon Count: 6
ID:CABP4_HUMAN DESCRIPTION: RecName: Full=Calcium-binding protein 4; Short=CaBP4; 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). SUBUNIT: Interacts with CACNA1F and CACNA1D (via IQ domain) in a calcium independent manner (By similarity). Interacts (via N- terminus) with UNC119 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Note=Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors (By similarity). TISSUE SPECIFICITY: Expressed in retina and in the inner hair cells (IHC) of the cochlea. PTM: Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity (By similarity). DISEASE: Defects in CABP4 are the cause of congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. SIMILARITY: Contains 4 EF-hand domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CABP4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P57796
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
