• Gene id: 779

Gene Summary

• Gene Symbol: CACNA1S   Gene   UCSC   Ensembl
• Aliases: CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
• Gene name: calcium voltage-gated channel subunit alpha1 S
• Alternate names: voltage-dependent L-type calcium channel subunit alpha-1S, calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis), calcium channel, voltage-dependent, L type, alpha 1S subunit, dihydropyridine receptor al,
• Gene location: 1q32.1 (201112565: 201039508)     Exons: 44     NC_000001.11
• Gene summary(Entrez): This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and mal
• OMIM: 114208

SNPs

rs780798708

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.113380945_113380946del
NC_000003.11   g.113099792_113099793del
NM_018338.3   c.2005_2006del
NM_001164496.2   c.2005_2006del
NM_001164496.1   c.2005_2006del
NP_060808.2   p.Met669fs
NP_001157968.1   p.Met669fs|SEQ=[AT/-]|GENE=CFAP44

Protein Summary

• Protein general information: Q13698  
  • Name: Voltage dependent L type calcium channel subunit alpha 1S (Calcium channel, L type, alpha 1 polypeptide, isoform 3, skeletal muscle) (Voltage gated calcium channel subunit alpha Cav1.1)
  • Length: 1873  
  • Mass: 212,350
• Sequence:

  MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLTIFANCVALAVYLPMP
  EDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRSGWNVLDFTIVFLGVFTVILEQVNVIQSHTA
  PMSSKGAGLDVKALRAFRVLRPLRLVSGVPSLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKT
  CYFIGTDIVATVENEEPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
  VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLDEDLRGYMSWITQGEV
  MDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRIFRWKCHDIVKSKVFYWLVILIVALNTLSIA
  SEHHNQPLWLTRLQDIANRVLLSLFTTEMLMKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGIS
  VLRCIRLLRIFKITKYWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
  PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIAVDNLAEAESLTSAQK
  AKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKLKIDEFESNVNEVKDPYPSADFPGDDEEDEP
  EIPLSPRPRPLAELQLKEKAVPIPEASSFFIFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRAD
  SMRNQILKHFDIGFTSVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
  VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDLSKMTEEECRGYYYVY
  KDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLLYKAIDSNAEDVGPIYNNRVEMAIFFIIYII
  LIAFFMMNIFVGFVIVTFQEQGETEYKNCELDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMF
  ALIMLNTICLGMQHYNQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
  EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTFIKSFQALPYVALLIV
  MLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEILLACSYGKLCDPESDYAPGEEY
  TCGTNFAYYYFISFYMLCAFLVINLFVAVIMDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTL
  LRRIQPPLGFGKFCPHRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
  TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLRTIEEEAAPEICRTVS
  GDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPPVMANQRPLQFAEIEMEEMESPVFLEDFPQD
  PRTNPLARANTNNANANVAYGNSNHSNSHVFSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGL
  LTQRAMPRGQAPPAPCQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
  AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQHQGSQETLIPPRL

• Structural information:
  • Interpro: IPR031649  IPR005821  IPR014873  IPR005450  IPR005446   IPR002077  IPR027359  
  • PDB: 2VAY 6B27
  • PDBsum: 2VAY 6B27
  • STRING: ENSP00000355192
• Other Databases: GeneCards:  CACNA1S  Malacards:  CACNA1S

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0006936	muscle contraction	IMP	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0030315	T-tubule	IDA	cellular component
GO:0031674	I band	IDA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0006936	muscle contraction	IMP	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030315	T-tubule	IDA	cellular component
GO:0031674	I band	IDA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0006936	muscle contraction	IMP	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0030315	T-tubule	IDA	cellular component
GO:0031674	I band	IDA	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04911	Insulin secretion
hsa04929	GnRH secretion
hsa04912	GnRH signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04924	Renin secretion
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04260	Cardiac muscle contraction
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04270	Vascular smooth muscle contraction
hsa04727	GABAergic synapse
hsa04725	Cholinergic synapse
hsa04726	Serotonergic synapse
hsa04723	Retrograde endocannabinoid signaling
hsa05010	Alzheimer disease
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05414	Dilated cardiomyopathy
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Hyperparathyroidism	GAD: 20424473
Azoospermia	MIK: 8537255
Thyrotoxic periodic paralysis	OMIM: 114208
Azoospermia	MIK: 8537255
Cryptorchidism	MIK: 28606200
Agenesis of vas deferens and seminal vesicles	MIK: 7721663

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8537255	Azoospermia				Male infertility	MHS-5 antigen
7721663	Diagnosis of agenesis of vas deferens and seminal vesicles in azoospermic men				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq