• Gene id: 8911

Gene Summary

• Gene Symbol: CACNA1I   Gene   UCSC   Ensembl
• Aliases: Cav3.3, ca(v)3.3
• Gene name: calcium voltage-gated channel subunit alpha1 I
• Alternate names: voltage-dependent T-type calcium channel subunit alpha-1I, calcium channel, voltage-dependent, T type, alpha 1I subunit, calcium channel, voltage-dependent, alpha 1I subunit, voltage-gated calcium channel subunit alpha Cav3.3,
• Gene location: 22q13.1 (39570752: 39689736)     Exons: 37     NC_000022.11
• Gene summary(Entrez): This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein
• OMIM: 608230

Protein Summary

• Protein general information: Q9P0X4  
  • Name: Voltage dependent T type calcium channel subunit alpha 1I (Voltage gated calcium channel subunit alpha Cav3.3) (Ca(v)3.3)
  • Length: 2223  
  • Mass: 245103
  • Tissue specificity: Brain specific.
• Sequence:

  MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFFCLRQTTSPRNWCIKM
  VCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDDFIFIFFAMEMVLKMVALGIFGKKCYLGDTW
  NRLDFFIVMAGMVEYSLDLQNINLSAIRTVRVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGI
  IGVQLWAGLLRNRCFLEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDV
  YDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWVEIMYYVMDAHSFYNF
  IYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYLSSSTVASYAEPGDCYEEIFQYVCHILRKAK
  RRALGLYQALQSRRQALGPEAPAPAKPGPHAKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELC
  PQHSPLDATPHTLVQPIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDG
  ASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIEHHEQPEELTNILEIC
  NVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIVGQADGGLSVLRTFRLLRVLKLVRFMPALRR
  QLVVLMKTMDNVATFCMLLMLFIFIFSILGMHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNV
  VLYNGMASTSPWASLYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGD
  PKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRMSYDQRSLSSSRSSYY
  GPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEVAADEGPPRAAPLHTPHAHHIHHGPHLAHRH
  RHHRRTLSLDNRDSVDLAELVPAVGAHPRAAWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYT
  LCFRVRKMIDVYKPDWCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTE
  RIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLASAGGAKILGVLRVLR
  LLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIFGILGVQLFKGKFYHCLGVDTRNITNRSDCM
  AANYRWVHHKYNFDNLGQALMSLFVLASKDGWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNM
  FVGVVVENFHKCRQHQEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLN
  VVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVLLSVMGITLEEIEINA
  ALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGKLVCNDEN
  PCEGMSRHATFENFGMAFLTLFQVSTGDNWNGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVV
  VAVLMKHLDDSNKEAQEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQEN
  LWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNSDRSSSILLGDDLSLE
  DPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPENFLCEMEEIPFNPVRSWLKHDSSQAPPSPFS
  PDASSPLLPMPAEFFHPAVSASQKGPEKGTGTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSA
  GSLQTTLEDSLTLSDSPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHH
  DSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLAAPGRPHAAALAHGLA
  RSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASKRKR

• Structural information:
  • Interpro: IPR030162  IPR005821  IPR005445  IPR002077  IPR027359  
  • STRING: ENSP00000385019
• Other Databases: GeneCards:  CACNA1I  Malacards:  CACNA1I

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070509	calcium ion import	IBA	biological process
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0019228	neuronal action potential	IBA	biological process
GO:0008332	low voltage-gated calcium channel activity	IBA	molecular function
GO:0005261	cation channel activity	IBA	molecular function
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0008332	low voltage-gated calcium channel activity	IEA	molecular function
GO:0019228	neuronal action potential	IEA	biological process
GO:0070509	calcium ion import	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
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:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005245	voltage-gated calcium channel activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030431	sleep	IEA	biological process
GO:0019228	neuronal action potential	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04020	Calcium signaling pathway
hsa04934	Cushing syndrome
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Schizophrenia	PMID:29308060
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq