Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	8911
Gene name	Calcium voltage-gated channel subunit alpha1 I
Gene symbol	CACNA1I
Synonyms (NCBI Gene)	Cav3.3NEDSISca(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

125 Show/Hide all (125)

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

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	10749850, 12080115
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	33704440
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	10454147
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16740636
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	10454147
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0030431	Process	Sleep	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
608230	1396	ENSG00000100346

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	1169 → 1442	Ion transport protein	Family
PF00520	Ion_trans	1486 → 1741	Ion transport protein	Family
PF00520	Ion_trans	639 → 872	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Brain specific.

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with speech impairment and with or without seizures	Pathogenic	rs2518160258, rs868110178, rs2518182063	RCV002306257 RCV002306258 RCV002306259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (27)
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antenatal intracerebral hemorrhage	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	31835028, 35764056	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026, 31835028, 33686288, 35764056	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	33704440	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNA1I-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	Disgenet	27541642, 28714951, 31785789, 33704440, 35229910	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HODGKINS LYMPHOMA	—	GWAS catalog	34216518	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	24709693	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	39358599	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	39358599	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	22883433, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203, 31740837, 31835028, 32606422, 33479212, 33686288, 34159505, 35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028, 33686288	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventriculomegaly	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RSRC1	4	["Anorexia nervosa","Nonsyndromic intellectual disability","Tourette syndrome","Obsessive-compulsive disorder"]	[]	5	["GWAS catalog (Anorexia nervosa)","Disgenet (Nonsyndromic intellectual disability)","Orphanet (Nonsyndromic intellectual disability)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
LMAN2L	4	["Anorexia nervosa","Nonsyndromic intellectual disability","Tourette syndrome","Obsessive-compulsive disorder"]	[]	5	["GWAS catalog (Anorexia nervosa)","Disgenet (Nonsyndromic intellectual disability)","Orphanet (Nonsyndromic intellectual disability)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
C8orf90	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
DGKI	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
HSPE1-MOB4	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]

CACNA1I (calcium voltage-gated channel subunit alpha1 I)

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