|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Multiple calcium channel transcripts in rat osteosarcoma cells: selective activation of alpha 1D isoform by parathyroid hormone. | Barry EL, etal., Proc Natl Acad Sci U S A 1995 Nov 21;92(24):10914-8. |
2. | Voltage-gated calcium channels. | Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947. |
3. | The gene for the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1. | Chin H, etal., Genomics 1992 Dec;14(4):1089-91. |
4. | Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. | Elbaz A, etal., Am J Hum Genet 1995 Feb;56(2):374-80. |
5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
6. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
7. | Upregulation of the CaV 1.1-ryanodine receptor complex in a rat model of critical illness myopathy. | Kraner SD, etal., Am J Physiol Regul Integr Comp Physiol. 2011 Jun;300(6):R1384-91. Epub 2011 Apr 6. |
8. | Gene Data Set | MGD Curation, June 12, 2002 |
9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
10. | Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. | Monnier N, etal., Am J Hum Genet 1997 Jun;60(6):1316-25. |
11. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
12. | Vitamin D and calcium co-therapy mitigates pre-established cadmium nephropathy by regulating renal calcium homeostatic molecules and improving anti-oxidative and anti-inflammatory activities in rat. | Obaid AA, etal., J Trace Elem Med Biol. 2023 May 24;79:127221. doi: 10.1016/j.jtemb.2023.127221. |
13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
14. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
15. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
16. | Caloric restriction prevents age-related decline in skeletal muscle dihydropyridine receptor and ryanodine receptor expression. | Renganathan M and Delbono O, FEBS Lett. 1998 Sep 4;434(3):346-50. doi: 10.1016/s0014-5793(98)01009-6. |
17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
19. | Primary structure of the receptor for calcium channel blockers from skeletal muscle. | Tanabe T, etal., Nature 1987 Jul 23-29;328(6128):313-8. |
20. | Voltage-gated Ca2+ channel mRNAs and T-type Ca2+ currents in rat gonadotropin-releasing hormone neurons. | Tanaka N, etal., J Physiol Sci. 2010 May;60(3):195-204. doi: 10.1007/s12576-010-0085-z. Epub 2010 Jan 26. |
21. | Localization of Cacna1s to ON bipolar dendritic tips requires mGluR6-related cascade elements. | Tummala SR, etal., Invest Ophthalmol Vis Sci. 2014 Mar 10;55(3):1483-92. doi: 10.1167/iovs.13-13766. |
22. | Decreased intracellular [Ca2+ ] coincides with reduced expression of Dhprα1s, RyR1, and diaphragmatic dysfunction in a rat model of sepsis. | Wang MM, etal., Muscle Nerve. 2017 Dec;56(6):1128-1136. doi: 10.1002/mus.25554. Epub 2017 Mar 23. |
23. | Molecular characterization and nephron distribution of a family of transcripts encoding the pore-forming subunit of Ca2+ channels in the kidney. | Yu AS, etal., Proc Natl Acad Sci U S A 1992 Nov 1;89(21):10494-8. |
PMID:289331 | PMID:1281468 | PMID:1663002 | PMID:2174428 | PMID:2419767 | PMID:4738109 | PMID:5041196 | PMID:6500174 | PMID:6501560 | PMID:6692971 | PMID:6692972 | PMID:6708965 |
PMID:6708966 | PMID:7286424 | PMID:7635187 | PMID:8143864 | PMID:8462749 | PMID:8943043 | PMID:9852570 | PMID:9929471 | PMID:10444070 | PMID:10929205 | PMID:10949052 | PMID:11206130 |
PMID:12954602 | PMID:14300095 | PMID:14300096 | PMID:14618389 | PMID:15536090 | PMID:16403451 | PMID:17204937 | PMID:17418573 | PMID:18718913 | PMID:23943510 |
Cacna1s (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CACNA1S (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cacna1s (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cacna1s (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CACNA1S (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CACNA1S (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cacna1s (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CACNA1S (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CACNA1S (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cacna1s (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Cacna1s
319 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH132481 |
|
||||||||||||||||||||||||||||||
RH71040 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
13 | 12 | 49 | 111 | 74 | 70 | 42 | 35 | 42 | 6 | 234 | 117 | 10 | 84 | 54 | 85 | 28 | 12 | 12 |
RefSeq Transcripts | NM_053873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB374360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L04684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M99220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U31816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000074366 ⟹ ENSRNOP00000067264 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000113109 ⟹ ENSRNOP00000094111 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000116181 ⟹ ENSRNOP00000078008 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_053873 ⟹ NP_446325 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_446325 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA40844 | (Get FASTA) | NCBI Sequence Viewer |
AAA40894 | (Get FASTA) | NCBI Sequence Viewer | |
AAA89158 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54980 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000067264 | ||
GenBank Protein | Q02485 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_446325 ⟸ NM_053873 |
- UniProtKB: | Q62817 (UniProtKB/Swiss-Prot), Q02485 (UniProtKB/Swiss-Prot), Q01553 (UniProtKB/Swiss-Prot), P70484 (UniProtKB/Swiss-Prot), B3XZL8 (UniProtKB/Swiss-Prot), M0RCE9 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000067264 ⟸ ENSRNOT00000074366 |
Ensembl Acc Id: | ENSRNOP00000078008 ⟸ ENSRNOT00000116181 |
Ensembl Acc Id: | ENSRNOP00000094111 ⟸ ENSRNOT00000113109 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q02485-F1-model_v2 | AlphaFold | Q02485 | 1-1850 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698853 | ||||||||
Promoter ID: | EPDNEW_R9377 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Cacna1s_1 | ||||||||
Description: | calcium voltage-gated channel subunit alpha1 S | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | RGD:70983 | AgrOrtholog |
BioCyc Gene | G2FUF-18184 | BioCyc |
Ensembl Genes | ENSRNOG00000046231 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENSRNOT00000074366 | ENTREZGENE |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot |
1.20.120.350 | UniProtKB/Swiss-Prot | |
6.10.250.2180 | UniProtKB/Swiss-Prot | |
6.10.250.2500 | UniProtKB/Swiss-Prot | |
InterPro | CAC1F_C | UniProtKB/Swiss-Prot |
GPHH_dom | UniProtKB/Swiss-Prot | |
Ion_trans_dom | UniProtKB/Swiss-Prot | |
VDCC_a1su_IQ | UniProtKB/Swiss-Prot | |
VDCC_alpha-1_subunit | UniProtKB/Swiss-Prot | |
VDCC_L_a1ssu | UniProtKB/Swiss-Prot | |
VDCC_L_a1su | UniProtKB/Swiss-Prot | |
VDCCAlpha1 | UniProtKB/Swiss-Prot | |
Volt_channel_dom_sf | UniProtKB/Swiss-Prot | |
KEGG Report | rno:682930 | UniProtKB/Swiss-Prot |
NCBI Gene | Cacna1s | ENTREZGENE |
PANTHER | VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 | UniProtKB/Swiss-Prot |
VOLTAGE-DEPENDENT L-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1S | UniProtKB/Swiss-Prot | |
Pfam | Ca_chan_IQ | UniProtKB/Swiss-Prot |
CAC1F_C | UniProtKB/Swiss-Prot | |
GPHH | UniProtKB/Swiss-Prot | |
Ion_trans | UniProtKB/Swiss-Prot | |
PhenoGen | Cacna1s | PhenoGen |
PRINTS | CACHANNEL | UniProtKB/Swiss-Prot |
LVDCCALPHA1 | UniProtKB/Swiss-Prot | |
LVDCCALPHA1S | UniProtKB/Swiss-Prot | |
RatGTEx | ENSRNOG00000046231 | RatGTEx |
SMART | Ca_chan_IQ | UniProtKB/Swiss-Prot |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/Swiss-Prot |
UniProt | A0A8I5Y8D5_RAT | UniProtKB/TrEMBL |
A0A8I6GL06_RAT | UniProtKB/TrEMBL | |
B3XZL8 | ENTREZGENE | |
CAC1S_RAT | UniProtKB/Swiss-Prot | |
M0RCE9 | ENTREZGENE, UniProtKB/TrEMBL | |
P70484 | ENTREZGENE | |
Q01553 | ENTREZGENE | |
Q02485 | ENTREZGENE | |
Q62817 | ENTREZGENE | |
UniProt Secondary | B3XZL8 | UniProtKB/Swiss-Prot |
P70484 | UniProtKB/Swiss-Prot | |
Q01553 | UniProtKB/Swiss-Prot | |
Q62817 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-11 | Cacna1s | calcium voltage-gated channel subunit alpha1 S | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-07-29 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | RGD1565743 | similar to dihydropyridine sensitive calcium channel | Data merged from RGD:1565743 | 737654 | PROVISIONAL |
2008-10-07 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | LOC682930 | similar to Voltage-dependent L-type calcium channel alpha-1S subunit (Voltage-gated calcium channel alpha subunit Cav1.1) (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) | Data merged from RGD:1592814 | 737654 | APPROVED |
2008-04-30 | RGD1565743 | similar to dihydropyridine sensitive calcium channel | RGD1565743_predicted | similar to dihydropyridine sensitive calcium channel (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-11-20 | LOC682930 | similar to Voltage-dependent L-type calcium channel alpha-1S subunit (Voltage-gated calcium channel alpha subunit Cav1.1) (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2006-03-07 | RGD1565743_predicted | similar to dihydropyridine sensitive calcium channel (predicted) | LOC501856 | similar to dihydropyridine sensitive calcium channel | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC501856 | similar to dihydropyridine sensitive calcium channel | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2002-07-09 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | Symbol and Name updated to reflect Human and Mouse nomenclature | 70877 | APPROVED |
Note Type | Note | Reference |
---|