Cacna1s calcium voltage-gated channel subunit alpha1 S [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cacna1sprovided by RGD
Official Full Name: calcium voltage-gated channel subunit alpha1 Sprovided by RGD
Primary source: RGD:70983
See related: Ensembl:ENSRNOG00000046231 AllianceGenome:RGD:70983
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cchl1a3; RGD1565743
Summary: Enables high voltage-gated calcium channel activity. Involved in calcium ion transport. Located in dendritic spine head and sarcolemma. Part of voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward (RPKM 1096.3) See more
Orthologs: human mouse all
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Genomic context

Location:: 13q13

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	13	NC_086031.1 (50045668..50115903)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	13	NC_051348.1 (47493949..47564194)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	13	NC_005112.4 (52889570..52964558)

Chromosome 13 - NC_086031.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Septic diaphragm contractility and expression of Cacna1s and RyR1 are significantly decreased in a sepsis model compared with controls.
Title: Decreased intracellular [Ca(2+) ] coincides with reduced expression of Dhprα1s, RyR1, and diaphragmatic dysfunction in a rat model of sepsis.
The expression levels of dihydropyridine alpha1s and RyR1 receptors (the isoforms of skeletal muscles) are significantly lower in septic rats than in control rats.
Title: Reduced DHPRα1S and RyR1 expression levels are associated with diaphragm contractile dysfunction during sepsis.
sequences in the IQ motifs of CaV1.1 and CaV1.2 strongly impact calmodulin binding and calcium-dependent inactivation
Title: Sequence differences in the IQ motifs of CaV1.1 and CaV1.2 strongly impact calmodulin binding and calcium-dependent inactivation.

Submit: New GeneRIF Correction

General gene information

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Markers

Cacna1s (e-PCR), detects polymorphism
- UniSTS:461911

Cacna1s (e-PCR), detects polymorphism
- UniSTS:259197

RH71040 (e-PCR)
- UniSTS:51906

RH132481 (e-PCR)
- UniSTS:215764

GDB:373591 (e-PCR)
- UniSTS:156909

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables high voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables high voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables high voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
enables high voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular function activator activity	ISO Inferred from Sequence Orthology more info
enables small molecule binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to caffeine	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endoplasmic reticulum organization	ISO Inferred from Sequence Orthology more info
involved_in extraocular skeletal muscle development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within extraocular skeletal muscle development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myoblast fusion	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuromuscular junction development	ISO Inferred from Sequence Orthology more info
involved_in ossification	NAS Non-traceable Author Statement more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to caloric restriction	IEP Inferred from Expression Pattern more info	PubMed
involved_in skeletal muscle adaptation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle adaptation	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle fiber development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle tissue development	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in striated muscle contraction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within striated muscle contraction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in I band	IEA Inferred from Electronic Annotation more info
located_in I band	ISO Inferred from Sequence Orthology more info
part_of L-type voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendritic spine head	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in somatodendritic compartment	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: voltage-dependent L-type calcium channel subunit alpha-1S

Names: ROB1; calcium channel, voltage-dependent, L type, alpha 1S subunit; voltage-gated calcium channel subunit alpha Cav1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_053873.1 → NP_446325.1 voltage-dependent L-type calcium channel subunit alpha-1S

See identical proteins and their annotated locations for NP_446325.1

Status: PROVISIONAL

Source sequence(s)

AB374360

UniProtKB/Swiss-Prot

B3XZL8, P70484, Q01553, Q02485, Q62817

UniProtKB/TrEMBL

M0RCE9

Related

ENSRNOP00000067264.3, ENSRNOT00000074366.3

Conserved Domains (4) summary

pfam00520
Location:1117 → 1392

Ion_trans; Ion transport protein

pfam08763
Location:1465 → 1536

Ca_chan_IQ; Voltage gated calcium channel IQ domain

pfam16885
Location:1558 → 1838

CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term

pfam16905
Location:1393 → 1463

GPHH; Voltage-dependent L-type calcium channel, IQ-associated