CABP4
entrez
57010
canonical
uniprot
P57796
canonical
ensembl
ENSG00000175544
resolver
ensp
ENSP00000324960
resolver
ensp
ENSP00000401555
resolver
genesymbol
CABP4
resolver
hgnc
HGNC:1386
resolver
uniprot
Q8N4Z2
resolver
uniprot
Q8WWY5
resolver
uniprot_entry
CABP4_HUMAN
resolver
uniprot_sec
Q8N4Z2
resolver
uniprot_sec
Q8WWY5
resolver
amino_acid_sequence
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH
uniprot
proteins
disease_involvement
DISEASE: Cone-rod synaptic disorder, congenital non-progressive (CRSD) [MIM:610427]: A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. {ECO:0000269|PubMed:16960802}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
30433
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
10625670
uniprot
proteins
pubmed
15452577
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16960802
uniprot
proteins
pubmed
19338761
uniprot
proteins
sequence_length
275
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19338761}. Presynapse {ECO:0000250|UniProtKB:Q8VHC5}. Note=Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors. {ECO:0000250|UniProtKB:Q8VHC5}.
uniprot
proteins