CACNA1I (calcium voltage-gated channel subunit alpha1 I)

Gene

• Entrez ID: 8911
• Gene name: Calcium voltage-gated channel subunit alpha1 I
• Gene symbol: CACNA1I
• Synonyms: Cav3.3, NEDSIS, ca(v)3.3
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042844	hsa-miR-324-3p	CLASH	23622248
MIRT857738	hsa-miR-3151	CLIP-seq
MIRT857739	hsa-miR-3665	CLIP-seq
MIRT857740	hsa-miR-3680	CLIP-seq
MIRT857741	hsa-miR-4261	CLIP-seq
MIRT857742	hsa-miR-4496	CLIP-seq
MIRT857743	hsa-miR-450b-3p	CLIP-seq
MIRT857744	hsa-miR-4521	CLIP-seq
MIRT857745	hsa-miR-4713-3p	CLIP-seq
MIRT857746	hsa-miR-4736	CLIP-seq
MIRT857747	hsa-miR-4798-3p	CLIP-seq
MIRT857748	hsa-miR-638	CLIP-seq
MIRT857749	hsa-miR-769-3p	CLIP-seq
MIRT857750	hsa-miR-1276	CLIP-seq
MIRT857751	hsa-miR-1291	CLIP-seq
MIRT857752	hsa-miR-137	CLIP-seq
MIRT857753	hsa-miR-150	CLIP-seq
MIRT857754	hsa-miR-154	CLIP-seq
MIRT857755	hsa-miR-24	CLIP-seq
MIRT857756	hsa-miR-2467-3p	CLIP-seq
MIRT857757	hsa-miR-3120-3p	CLIP-seq
MIRT857758	hsa-miR-3121-3p	CLIP-seq
MIRT857759	hsa-miR-346	CLIP-seq
MIRT857760	hsa-miR-3677-5p	CLIP-seq
MIRT857761	hsa-miR-3678-3p	CLIP-seq
MIRT857762	hsa-miR-3910	CLIP-seq
MIRT857763	hsa-miR-3918	CLIP-seq
MIRT857764	hsa-miR-3937	CLIP-seq
MIRT857765	hsa-miR-3943	CLIP-seq
MIRT857766	hsa-miR-4252	CLIP-seq
MIRT857767	hsa-miR-4264	CLIP-seq
MIRT857768	hsa-miR-4288	CLIP-seq
MIRT857769	hsa-miR-4311	CLIP-seq
MIRT857770	hsa-miR-4323	CLIP-seq
MIRT857771	hsa-miR-4327	CLIP-seq
MIRT857772	hsa-miR-4328	CLIP-seq
MIRT857773	hsa-miR-4417	CLIP-seq
MIRT857774	hsa-miR-4436a	CLIP-seq
MIRT857775	hsa-miR-4446-5p	CLIP-seq
MIRT857776	hsa-miR-4460	CLIP-seq
MIRT857777	hsa-miR-448	CLIP-seq
MIRT857778	hsa-miR-4509	CLIP-seq
MIRT857779	hsa-miR-4532	CLIP-seq
MIRT857780	hsa-miR-4685-5p	CLIP-seq
MIRT857781	hsa-miR-4700-3p	CLIP-seq
MIRT857782	hsa-miR-4715-3p	CLIP-seq
MIRT857783	hsa-miR-4727-3p	CLIP-seq
MIRT857784	hsa-miR-4744	CLIP-seq
MIRT857785	hsa-miR-4749-3p	CLIP-seq
MIRT857786	hsa-miR-4755-3p	CLIP-seq
MIRT857787	hsa-miR-4786-5p	CLIP-seq
MIRT857788	hsa-miR-541	CLIP-seq
MIRT857789	hsa-miR-548an	CLIP-seq
MIRT857790	hsa-miR-583	CLIP-seq
MIRT857791	hsa-miR-586	CLIP-seq
MIRT857792	hsa-miR-622	CLIP-seq
MIRT857793	hsa-miR-628-5p	CLIP-seq
MIRT857794	hsa-miR-632	CLIP-seq
MIRT857795	hsa-miR-654-5p	CLIP-seq
MIRT1546036	hsa-miR-1205	CLIP-seq
MIRT1546037	hsa-miR-1225-3p	CLIP-seq
MIRT1546038	hsa-miR-1233	CLIP-seq
MIRT1546039	hsa-miR-1909	CLIP-seq
MIRT1546040	hsa-miR-1915	CLIP-seq
MIRT857760	hsa-miR-3677-5p	CLIP-seq
MIRT857762	hsa-miR-3910	CLIP-seq
MIRT1546041	hsa-miR-4436b-3p	CLIP-seq
MIRT857776	hsa-miR-4460	CLIP-seq
MIRT1546042	hsa-miR-4688	CLIP-seq
MIRT857783	hsa-miR-4727-3p	CLIP-seq
MIRT857789	hsa-miR-548an	CLIP-seq
MIRT1954710	hsa-miR-1321	CLIP-seq
MIRT1954711	hsa-miR-141	CLIP-seq
MIRT1546040	hsa-miR-1915	CLIP-seq
MIRT1954712	hsa-miR-200a	CLIP-seq
MIRT1954713	hsa-miR-3155	CLIP-seq
MIRT1954714	hsa-miR-3155b	CLIP-seq
MIRT1954715	hsa-miR-3194-3p	CLIP-seq
MIRT857739	hsa-miR-3665	CLIP-seq
MIRT1954716	hsa-miR-3920	CLIP-seq
MIRT1954717	hsa-miR-4313	CLIP-seq
MIRT1954718	hsa-miR-4684-5p	CLIP-seq
MIRT1954719	hsa-miR-4727-5p	CLIP-seq
MIRT857746	hsa-miR-4736	CLIP-seq
MIRT1954720	hsa-miR-4739	CLIP-seq
MIRT1954721	hsa-miR-4747-5p	CLIP-seq
MIRT857786	hsa-miR-4755-3p	CLIP-seq
MIRT1954722	hsa-miR-4756-5p	CLIP-seq
MIRT1954723	hsa-miR-4768-5p	CLIP-seq
MIRT1954724	hsa-miR-4769-3p	CLIP-seq
MIRT1954725	hsa-miR-484	CLIP-seq
MIRT1954726	hsa-miR-760	CLIP-seq
MIRT1954727	hsa-miR-764	CLIP-seq
MIRT1954728	hsa-miR-873	CLIP-seq
MIRT1954729	hsa-miR-940	CLIP-seq
MIRT2192281	hsa-miR-2113	CLIP-seq
MIRT2192282	hsa-miR-2115	CLIP-seq
MIRT2192283	hsa-miR-3064-5p	CLIP-seq
MIRT1954715	hsa-miR-3194-3p	CLIP-seq
MIRT2192284	hsa-miR-3202	CLIP-seq
MIRT857739	hsa-miR-3665	CLIP-seq
MIRT857760	hsa-miR-3677-5p	CLIP-seq
MIRT857762	hsa-miR-3910	CLIP-seq
MIRT857776	hsa-miR-4460	CLIP-seq
MIRT2192285	hsa-miR-4492	CLIP-seq
MIRT2192286	hsa-miR-4498	CLIP-seq
MIRT2192287	hsa-miR-4637	CLIP-seq
MIRT857783	hsa-miR-4727-3p	CLIP-seq
MIRT857746	hsa-miR-4736	CLIP-seq
MIRT1954721	hsa-miR-4747-5p	CLIP-seq
MIRT2192288	hsa-miR-516a-3p	CLIP-seq
MIRT857789	hsa-miR-548an	CLIP-seq
MIRT2192289	hsa-miR-604	CLIP-seq
MIRT2192290	hsa-miR-647	CLIP-seq
MIRT2192291	hsa-miR-762	CLIP-seq
MIRT857760	hsa-miR-3677-5p	CLIP-seq
MIRT857762	hsa-miR-3910	CLIP-seq
MIRT857776	hsa-miR-4460	CLIP-seq
MIRT1954718	hsa-miR-4684-5p	CLIP-seq
MIRT857783	hsa-miR-4727-3p	CLIP-seq
MIRT1954723	hsa-miR-4768-5p	CLIP-seq
MIRT857789	hsa-miR-548an	CLIP-seq
MIRT2446039	hsa-miR-1976	CLIP-seq
MIRT2446040	hsa-miR-370	CLIP-seq
MIRT2446041	hsa-miR-483-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA	21873635
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	10454147
GO:0005248	Function	Voltage-gated sodium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16740636
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0007165	Process	Signal transduction	TAS	10454147
GO:0008332	Function	Low voltage-gated calcium channel activity	IBA	21873635
GO:0019228	Process	Neuronal action potential	IBA	21873635
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030431	Process	Sleep	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IBA	21873635
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086010	Process	Membrane depolarization during action potential	IBA	21873635

Other IDs

• MIM: 608230
• HGNC: 1396
• e!Ensembl: ENSG00000100346

Protein

• UniProt ID: Q9P0X4
• Protein name: Voltage-dependent T-type calcium channel subunit alpha-1I (Voltage-gated calcium channel subunit alpha Cav3.3) (Ca(v)3.3)
• Protein function: Voltage-sensitive calcium channels (VSCC) 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, gene expressio
• PDB: 7WLI, 7WLJ, 7WLK, 7WLL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	78 → 409	Ion transport protein	Family
  PF00520	Ion_trans	639 → 872	Ion transport protein	Family
  PF00520	Ion_trans	1169 → 1442	Ion transport protein	Family
  PF00520	Ion_trans	1486 → 1741	Ion transport protein	Family

• Sequence:

  MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFF
  CLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDD
  FIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTV
  RVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGIIGVQLWAGLLRNRCF
  LEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDV
  YDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWV
  EIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYL
  SSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPH
  AKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELCPQHSPLDATPHTLVQ
  PIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDG
  ASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIE
  HHEQPEELTNILEICNVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIV
  GQADGGLSVLRTFRLLRVLKLVRFMPALRRQLVVLMKTMDNVATFCMLLMLFIFIFSILG
  MHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSPWASL
  YFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGD
  PKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRM
  SYDQRSLSSSRSSYYGPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEV
  AADEGPPRAAPLHTPHAHHIHHGPHLAHRHRHHRRTLSLDNRDSVDLAELVPAVGAHPRA
  AWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYTLCFRVRKMIDVYKPD
  WCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTE
  RIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLA
  SAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIF
  GILGVQLFKGKFYHCLGVDTRNITNRSDCMAANYRWVHHKYNFDNLGQALMSLFVLASKD
  GWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQH
  QEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLN
  VVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVL
  LSVMGITLEEIEINAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVG
  NLGLLFMLLFFIYAALGVELFGKLVCNDENPCEGMSRHATFENFGMAFLTLFQVSTGDNW
  NGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVVVAVLMKHLDDSNKEA
  QEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQEN
  LWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNS
  DRSSSILLGDDLSLEDPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPEN
  FLCEMEEIPFNPVRSWLKHDSSQAPPSPFSPDASSPLLPMPAEFFHPAVSASQKGPEKGT
  GTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSAGSLQTTLEDSLTLSD
  SPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHH
  DSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLA
  APGRPHAAALAHGLARSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASK
  RKR

• Sequence length: 2223

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
GnRH secretion
Cushing syndrome

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	24709693
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764, 28540026, 29483656, 30285260, 28991256, 31268507, 31374203

Unknown
Disease name	Disease term	dbSNP ID	References
Development disorder	Child Development Disorders, Pervasive		28540026