| Annotated protein: | Voltage-dependent L-type calcium channel subunit alpha-1D (Calcium channel, L type, alpha-1 polypeptide isoform 2) (Voltage-gated calcium channel subunit alpha Cav1.3). Gene symbol: CACNA1D. Taxonomy: Mus musculus (Mouse). Uniprot ID: Q99246 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ CACNA1D |
| Ontology domain: | Biological Process |
| SynGO term: | voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels (GO:0099626) |
| Synapse type(s): | Cochlear hair cell ribbon synapse |
| Annotated paper: | Platzer J, et al. "Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels" Cell. 2000 Jul 7;102(1):89-97 PMID:10929716 |
| Figure(s): | Fig 2,3,4 |
| Annotation description: | Knockout mice for the alpha1D gene were created. The loss of this calcium channel gene resulted in deafness in the mice. Recordings of Ca currents from inner hair cells shows they have lost almost all voltage-dependent Ca currents. Measurements of auditory brain stem responses show profound deficits in auditory-evoked responses in the knockout mice |
| Evidence tracking, Biological System: | Intact tissue |
| Evidence tracking, Protein Targeting: | Genetic transformation (eg; knockout, knockin, mutations) |
| Evidence tracking, Experiment Assay: | Whole-cell patch clamp Field recordings |
| Annotator(s): | Ryan J. Farrell (ORCID:0000-0003-4022-8707) Ghazaleh Ashrafi (ORCID:0000-0001-7480-0826) Camila Pulido (ORCID:0000-0002-5648-066X) Jaime de Juan-Sanz (ORCID:0000-0002-1212-5623) Timothy Ryan (ORCID:0000-0003-2533-9548) |
| Lab: | Department of Biochemistry, Weill Cornell Medicine, New York, NY 10065, USA |
| SynGO annotation ID: | 1584 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |