• Gene id: 776

Gene Summary

• Gene Symbol: CACNA1D   Gene   UCSC   Ensembl
• Aliases: CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
• Gene name: calcium voltage-gated channel subunit alpha1 D
• Alternate names: voltage-dependent L-type calcium channel subunit alpha-1D, calcium channel, L type, alpha-1 polypeptide, calcium channel, neuroendocrine/brain-type, alpha 1 subunit, calcium channel, voltage-dependent, L type, alpha 1D subunit, voltage-gated calcium channel a,
• Gene location: 3p21.1 (53494610: 53813732)     Exons: 53     NC_000003.12
• Gene summary(Entrez): Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c
• OMIM: 164850

SNPs

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

Protein Summary

• Protein general information: Q01668  
  • Name: 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)
  • Length: 2161  
  • Mass: 245141
  • Tissue specificity: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {E
• Sequence:

  MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAARQAKAAQTMSTSAPP
  PVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACISIVEWKPFDIFILLAIFANCVALAIYIPFP
  EDDSNSTNHNLEKVEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGN
  HSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
  CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQCITMEGWTDVLYWMND
  AMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKLREKQQLEEDLKGYLDWITQAEDIDP
  ENEEEGGEEGKRNTSMPTSETESVNTENVSGEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTF
  YWLVIVLVFLNTLTISSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
  ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGK
  FNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGGPSSSGMIVCIYFIILFICGNYILLNVFLAI
  AVDNLADAESLNTAQKEEAEEKERKKIARKESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPV
  GEEEEEEEEDEPEVPAGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
  AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDMLVVGVSLVSFGIQSS
  AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYRCTDEAKS
  NPEECRGLFILYKDGDVDSPVVRERIWQNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHR
  VEISIFFIIYIIIVAFFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
  VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFKPKGYFSDAWNTFDSL
  IVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRLFRVMRLVKLLSRGEGIRTLLWTFIKSFQAL
  PYVALLIAMLFFIYAVIGMQMFGKVAMRDNNQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPES
  DYNPGEEYTCGSNFAIVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
  KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKIKTEGNLEQANEELRA
  VIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFKKRKEQGLVGKYPAKNTTIALQAGLRTLHDI
  GPEIRRAISCDLQDDEPEETKREEEDDVFKRNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTE
  KPLFPPAGNSVCHNHHNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
  VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTWSRQNYGYYSRYPGRN
  IDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRRSSFNFECLRRQSSQEEVPSSPIFPHRTALP
  LHLMQQQIMAVAGLDSSKAQKYSPSHSTRSWATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWY
  TDEPDISYRTFTPASLTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
  SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITTL

• Structural information:
  • Interpro: IPR031688  IPR031649  IPR005821  IPR005452  IPR014873   IPR005446  IPR002077  IPR027359  
  • PDB: 3LV3
  • PDBsum: 3LV3
  • DIP: 48998
  • STRING: ENSP00000288139
• Other Databases: GeneCards:  CACNA1D  Malacards:  CACNA1D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0006816	calcium ion transport	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0005262	calcium channel activity	IMP	molecular function
GO:0005262	calcium channel activity	IMP	molecular function
GO:0045762	positive regulation of adenylate cyclase activity	ISS	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0098683	cochlear hair cell ribbon synapse	IEA	cellular component
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential	IEA	molecular function
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization	IEA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA	biological process
GO:1901379	regulation of potassium ion transmembrane transport	IEA	biological process
GO:1901016	regulation of potassium ion transmembrane transporter activity	IEA	biological process
GO:0099635	voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels	IEA	molecular function
GO:0099059	integral component of presynaptic active zone membrane	IEA	cellular component
GO:0086091	regulation of heart rate by cardiac conduction	IEA	biological process
GO:0086046	membrane depolarization during SA node cell action potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0030506	ankyrin binding	IEA	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	molecular function
GO:0051393	alpha-actinin binding	IPI	molecular function
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential	IMP	molecular function
GO:0008331	high voltage-gated calcium channel activity	IDA	contributes to
GO:0030506	ankyrin binding	ISS	molecular function
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0070509	calcium ion import	IDA	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IC	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISS	biological process
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0086046	membrane depolarization during SA node cell action potential	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:1901016	regulation of potassium ion transmembrane transporter activity	ISS	biological process
GO:1901379	regulation of potassium ion transmembrane transport	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0099703	induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099533	positive regulation of presynaptic cytosolic calcium concentration	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04010	MAPK signaling pathway
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04530	Tight junction
hsa04723	Retrograde endocannabinoid signaling
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04218	Cellular senescence
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04726	Serotonergic synapse
hsa04727	GABAergic synapse
hsa04260	Cardiac muscle contraction
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05031	Amphetamine addiction
hsa04924	Renin secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04930	Type II diabetes mellitus
hsa04973	Carbohydrate digestion and absorption

Diseases

Associated diseases	References
Primary aldosteronism	KEGG:H01603
Primary aldosteronism	KEGG:H01603
type 2 diabetes mellitus	PMID:23229155
type 2 diabetes mellitus	PMID:23229155
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq