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Entry version 166 (22 Apr 2020)
Sequence version 1 (01 Oct 2000)
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Protein

Voltage-dependent T-type calcium channel subunit alpha-1I

Gene

CACNA1I

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei357Calcium ion selectivity and permeabilityBy similarity1
Sitei821Calcium ion selectivity and permeabilityBy similarity1
Sitei1380Calcium ion selectivity and permeabilityBy similarity1
Sitei1678Calcium ion selectivity and permeabilityBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-419037 NCAM1 interactions

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.11.7 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Voltage-dependent T-type calcium channel subunit alpha-1I
Alternative name(s):
Voltage-gated calcium channel subunit alpha Cav3.3
Short name:
Ca(v)3.3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CACNA1I
Synonyms:KIAA1120
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1396 CACNA1I

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608230 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P0X4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 78CytoplasmicSequence analysisAdd BLAST78
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei79 – 99Helical; Name=S1 of repeat ISequence analysisAdd BLAST21
Topological domaini100 – 120ExtracellularSequence analysisAdd BLAST21
Transmembranei121 – 141Helical; Name=S2 of repeat ISequence analysisAdd BLAST21
Topological domaini142 – 148CytoplasmicSequence analysis7
Transmembranei149 – 168Helical; Name=S3 of repeat ISequence analysisAdd BLAST20
Topological domaini169 – 173ExtracellularSequence analysis5
Transmembranei174 – 191Helical; Name=S4 of repeat ISequence analysisAdd BLAST18
Topological domaini192 – 211CytoplasmicSequence analysisAdd BLAST20
Transmembranei212 – 232Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini233 – 377ExtracellularSequence analysisAdd BLAST145
Transmembranei378 – 398Helical; Name=S6 of repeat ISequence analysisAdd BLAST21
Topological domaini399 – 640CytoplasmicSequence analysisAdd BLAST242
Transmembranei641 – 661Helical; Name=S1 of repeat IISequence analysisAdd BLAST21
Topological domaini662 – 676ExtracellularSequence analysisAdd BLAST15
Transmembranei677 – 697Helical; Name=S2 of repeat IISequence analysisAdd BLAST21
Topological domaini698 – 702CytoplasmicSequence analysis5
Transmembranei703 – 721Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini722 – 729ExtracellularSequence analysis8
Transmembranei730 – 753Helical; Name=S4 of repeat IISequence analysisAdd BLAST24
Topological domaini754 – 764CytoplasmicSequence analysisAdd BLAST11
Transmembranei765 – 785Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini786 – 841ExtracellularSequence analysisAdd BLAST56
Transmembranei842 – 862Helical; Name=S6 of repeat IISequence analysisAdd BLAST21
Topological domaini863 – 1166CytoplasmicSequence analysisAdd BLAST304
Transmembranei1167 – 1187Helical; Name=S1 of repeat IIISequence analysisAdd BLAST21
Topological domaini1188 – 1209ExtracellularSequence analysisAdd BLAST22
Transmembranei1210 – 1230Helical; Name=S2 of repeat IIISequence analysisAdd BLAST21
Topological domaini1231 – 1244CytoplasmicSequence analysisAdd BLAST14
Transmembranei1245 – 1265Helical; Name=S3 of repeat IIISequence analysisAdd BLAST21
Topological domaini1266 – 1272ExtracellularSequence analysis7
Transmembranei1273 – 1294Helical; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1295 – 1304CytoplasmicSequence analysis10
Transmembranei1305 – 1325Helical; Name=S5 of repeat IIISequence analysisAdd BLAST21
Topological domaini1326 – 1410ExtracellularSequence analysisAdd BLAST85
Transmembranei1411 – 1431Helical; Name=S6 of repeat IIISequence analysisAdd BLAST21
Topological domaini1432 – 1485CytoplasmicSequence analysisAdd BLAST54
Transmembranei1486 – 1506Helical; Name=S1 of repeat IVSequence analysisAdd BLAST21
Topological domaini1507 – 1522ExtracellularSequence analysisAdd BLAST16
Transmembranei1523 – 1543Helical; Name=S2 of repeat IVSequence analysisAdd BLAST21
Topological domaini1544 – 1556CytoplasmicSequence analysisAdd BLAST13
Transmembranei1557 – 1577Helical; Name=S3 of repeat IVSequence analysisAdd BLAST21
Topological domaini1578 – 1583ExtracellularSequence analysis6
Transmembranei1584 – 1607Helical; Name=S4 of repeat IVSequence analysisAdd BLAST24
Topological domaini1608 – 1621CytoplasmicSequence analysisAdd BLAST14
Transmembranei1622 – 1642Helical; Name=S5 of repeat IVSequence analysisAdd BLAST21
Topological domaini1643 – 1709ExtracellularSequence analysisAdd BLAST67
Transmembranei1710 – 1730Helical; Name=S6 of repeat IVSequence analysisAdd BLAST21
Topological domaini1731 – 2223CytoplasmicSequence analysisAdd BLAST493

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
8911

Open Targets

More...
OpenTargetsi
ENSG00000100346

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26011

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P0X4 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5558

Drug and drug target database

More...
DrugBanki
DB00381 Amlodipine
DB09231 Benidipine
DB13746 Bioallethrin
DB11148 Butamben
DB11093 Calcium Citrate
DB11348 Calcium Phosphate
DB14481 Calcium phosphate dihydrate
DB09061 Cannabidiol
DB00568 Cinnarizine
DB09235 Efonidipine
DB00153 Ergocalciferol
DB04841 Flunarizine
DB09238 Manidipine
DB14009 Medical Cannabis
DB01388 Mibefradil
DB14011 Nabiximols
DB06152 Nylidrin
DB00617 Paramethadione
DB00421 Spironolactone
DB09498 Strontium chloride Sr-89
DB09089 Trimebutine
DB00909 Zonisamide

DrugCentral

More...
DrugCentrali
Q9P0X4

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
537

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CACNA1I

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23396521

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000539571 – 2223Voltage-dependent T-type calcium channel subunit alpha-1IAdd BLAST2223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi244N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi311N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1058PhosphoserineBy similarity1
Glycosylationi1342N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1345N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P0X4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P0X4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9P0X4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P0X4

PeptideAtlas

More...
PeptideAtlasi
Q9P0X4

PRoteomics IDEntifications database

More...
PRIDEi
Q9P0X4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83622 [Q9P0X4-1]
83623 [Q9P0X4-2]
83624 [Q9P0X4-3]
83625 [Q9P0X4-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P0X4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9P0X4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100346 Expressed in primary visual cortex and 111 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P0X4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100346 Tissue enhanced (adrenal gland, brain, lymphoid tissue, thyroid gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114425, 1 interactor

Protein interaction database and analysis system

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IntActi
Q9P0X4, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000385019

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9P0X4

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9P0X4 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati66 – 401IAdd BLAST336
Repeati626 – 865IIAdd BLAST240
Repeati1157 – 1434IIIAdd BLAST278
Repeati1472 – 1733IVAdd BLAST262

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi608 – 613Poly-Glu6
Compositional biasi1775 – 1783Poly-Gly9
Compositional biasi2110 – 2120Poly-GlyAdd BLAST11
Compositional biasi2138 – 2145Poly-Pro8

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2302 Eukaryota
COG1226 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158594

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000540_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P0X4

KEGG Orthology (KO)

More...
KOi
K04856

Identification of Orthologs from Complete Genome Data

More...
OMAi
LCEMEAI

Database of Orthologous Groups

More...
OrthoDBi
172471at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P0X4

TreeFam database of animal gene trees

More...
TreeFami
TF313555

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.120.350, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030162 CACNA1I
IPR005821 Ion_trans_dom
IPR005445 VDCC_T_a1
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10037:SF209 PTHR10037:SF209, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 4 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00167 CACHANNEL
PR01629 TVDCCALPHA1

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9P0X4-1) [UniParc]FASTAAdd to basket
Also known as: Delta36b

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAESASPPSS SAAAPAAEPG VTTEQPGPRS PPSSPPGLEE PLDGADPHVP
60 70 80 90 100
HPDLAPIAFF CLRQTTSPRN WCIKMVCNPW FECVSMLVIL LNCVTLGMYQ
110 120 130 140 150
PCDDMDCLSD RCKILQVFDD FIFIFFAMEM VLKMVALGIF GKKCYLGDTW
160 170 180 190 200
NRLDFFIVMA GMVEYSLDLQ NINLSAIRTV RVLRPLKAIN RVPSMRILVN
210 220 230 240 250
LLLDTLPMLG NVLLLCFFVF FIFGIIGVQL WAGLLRNRCF LEENFTIQGD
260 270 280 290 300
VALPPYYQPE EDDEMPFICS LSGDNGIMGC HEIPPLKEQG RECCLSKDDV
310 320 330 340 350
YDFGAGRQDL NASGLCVNWN RYYNVCRTGS ANPHKGAINF DNIGYAWIVI
360 370 380 390 400
FQVITLEGWV EIMYYVMDAH SFYNFIYFIL LIIVGSFFMI NLCLVVIATQ
410 420 430 440 450
FSETKQREHR LMLEQRQRYL SSSTVASYAE PGDCYEEIFQ YVCHILRKAK
460 470 480 490 500
RRALGLYQAL QSRRQALGPE APAPAKPGPH AKEPRHYHGK TKGQGDEGRH
510 520 530 540 550
LGSRHCQTLH GPASPGNDHS GRELCPQHSP LDATPHTLVQ PIPATLASDP
560 570 580 590 600
ASCPCCQHED GRRPSGLGST DSGQEGSGSG SSAGGEDEAD GDGARSSEDG
610 620 630 640 650
ASSELGKEEE EEEQADGAVW LCGDVWRETR AKLRGIVDSK YFNRGIMMAI
660 670 680 690 700
LVNTVSMGIE HHEQPEELTN ILEICNVVFT SMFALEMILK LAAFGLFDYL
710 720 730 740 750
RNPYNIFDSI IVIISIWEIV GQADGGLSVL RTFRLLRVLK LVRFMPALRR
760 770 780 790 800
QLVVLMKTMD NVATFCMLLM LFIFIFSILG MHIFGCKFSL RTDTGDTVPD
810 820 830 840 850
RKNFDSLLWA IVTVFQILTQ EDWNVVLYNG MASTSPWASL YFVALMTFGN
860 870 880 890 900
YVLFNLLVAI LVEGFQAEGD ANRSYSDEDQ SSSNIEEFDK LQEGLDSSGD
910 920 930 940 950
PKLCPIPMTP NGHLDPSLPL GGHLGPAGAA GPAPRLSLQP DPMLVALGSR
960 970 980 990 1000
KSSVMSLGRM SYDQRSLSSS RSSYYGPWGR SAAWASRRSS WNSLKHKPPS
1010 1020 1030 1040 1050
AEHESLLSAE RGGGARVCEV AADEGPPRAA PLHTPHAHHI HHGPHLAHRH
1060 1070 1080 1090 1100
RHHRRTLSLD NRDSVDLAEL VPAVGAHPRA AWRAAGPAPG HEDCNGRMPS
1110 1120 1130 1140 1150
IAKDVFTKMG DRGDRGEDEE EIDYTLCFRV RKMIDVYKPD WCEVREDWSV
1160 1170 1180 1190 1200
YLFSPENRFR VLCQTIIAHK LFDYVVLAFI FLNCITIALE RPQIEAGSTE
1210 1220 1230 1240 1250
RIFLTVSNYI FTAIFVGEMT LKVVSLGLYF GEQAYLRSSW NVLDGFLVFV
1260 1270 1280 1290 1300
SIIDIVVSLA SAGGAKILGV LRVLRLLRTL RPLRVISRAP GLKLVVETLI
1310 1320 1330 1340 1350
SSLKPIGNIV LICCAFFIIF GILGVQLFKG KFYHCLGVDT RNITNRSDCM
1360 1370 1380 1390 1400
AANYRWVHHK YNFDNLGQAL MSLFVLASKD GWVNIMYNGL DAVAVDQQPV
1410 1420 1430 1440 1450
TNHNPWMLLY FISFLLIVSF FVLNMFVGVV VENFHKCRQH QEAEEARRRE
1460 1470 1480 1490 1500
EKRLRRLEKK RRKAQRLPYY ATYCHTRLLI HSMCTSHYLD IFITFIICLN
1510 1520 1530 1540 1550
VVTMSLEHYN QPTSLETALK YCNYMFTTVF VLEAVLKLVA FGLRRFFKDR
1560 1570 1580 1590 1600
WNQLDLAIVL LSVMGITLEE IEINAALPIN PTIIRIMRVL RIARVLKLLK
1610 1620 1630 1640 1650
MATGMRALLD TVVQALPQVG NLGLLFMLLF FIYAALGVEL FGKLVCNDEN
1660 1670 1680 1690 1700
PCEGMSRHAT FENFGMAFLT LFQVSTGDNW NGIMKDTLRD CTHDERSCLS
1710 1720 1730 1740 1750
SLQFVSPLYF VSFVLTAQFV LINVVVAVLM KHLDDSNKEA QEDAEMDAEL
1760 1770 1780 1790 1800
ELEMAHGLGP GPRLPTGSPG APGRGPGGAG GGGDTEGGLC RRCYSPAQEN
1810 1820 1830 1840 1850
LWLDSVSLII KDSLEGELTI IDNLSGSIFH HYSSPAGCKK CHHDKQEVQL
1860 1870 1880 1890 1900
AETEAFSLNS DRSSSILLGD DLSLEDPTAC PPGRKDSKGE LDPPEPMRVG
1910 1920 1930 1940 1950
DLGECFFPLS STAVSPDPEN FLCEMEEIPF NPVRSWLKHD SSQAPPSPFS
1960 1970 1980 1990 2000
PDASSPLLPM PAEFFHPAVS ASQKGPEKGT GTGTLPKIAL QGSWASLRSP
2010 2020 2030 2040 2050
RVNCTLLRQA TGSDTSLDAS PSSSAGSLQT TLEDSLTLSD SPRRALGPPA
2060 2070 2080 2090 2100
PAPGPRAGLS PAARRRLSLR GRGLFSLRGL RAHQRSHSSG GSTSPGCTHH
2110 2120 2130 2140 2150
DSMDPSDEEG RGGAGGGGAG SEHSETLSSL SLTSLFCPPP PPPAPGLTPA
2160 2170 2180 2190 2200
RKFSSTSSLA APGRPHAAAL AHGLARSPSW AADRSKDPPG RAPLPMGLGP
2210 2220
LAPPPQPLPG ELEPGDAASK RKR
Length:2,223
Mass (Da):245,103
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3CAE4D1C4289D08B
GO
Isoform 2 (identifier: Q9P0X4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2010-2223: ATGSDTSLDA...PGDAASKRKR → VPTPPRP

Show »
Length:2,016
Mass (Da):224,404
Checksum:i7721511BDA564B80
GO
Isoform 3 (identifier: Q9P0X4-3) [UniParc]FASTAAdd to basket
Also known as: Alpha1I-a

The sequence of this isoform differs from the canonical sequence as follows:
     488-523: HGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRE → Q
     2010-2223: ATGSDTSLDA...PGDAASKRKR → VPTPPRP

Show »
Length:1,981
Mass (Da):220,748
Checksum:i3AF7A61ECEBC7AEC
GO
Isoform 4 (identifier: Q9P0X4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     488-523: HGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRE → Q

Show »
Length:2,188
Mass (Da):241,448
Checksum:i87E508C40BBEFEAB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0138831040I → V1 PublicationCorresponds to variant dbSNP:rs136853Ensembl.1
Natural variantiVAR_0487451513T → M. Corresponds to variant dbSNP:rs8141262Ensembl.1
Natural variantiVAR_0138841782G → A. Corresponds to variant dbSNP:rs2294369Ensembl.1
Natural variantiVAR_0200501782G → R. Corresponds to variant dbSNP:rs2294369Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000950488 – 523HGKTK…HSGRE → Q in isoform 3 and isoform 4. 2 PublicationsAdd BLAST36
Alternative sequenceiVSP_0009512010 – 2223ATGSD…SKRKR → VPTPPRP in isoform 2 and isoform 3. 2 PublicationsAdd BLAST214

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF129133 mRNA Translation: AAD45251.1
AF142567 mRNA Translation: AAF25722.1
AF211189 mRNA Translation: AAF44626.1
AF393329 mRNA Translation: AAM67414.1
AL008716 Genomic DNA No translation available.
AL022312 Genomic DNA No translation available.
AL022319 Genomic DNA No translation available.
AB032946 mRNA Translation: BAA86434.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46710.1 [Q9P0X4-1]
CCDS46711.1 [Q9P0X4-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001003406.1, NM_001003406.1 [Q9P0X4-4]
NP_066919.2, NM_021096.3 [Q9P0X4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000401624; ENSP00000383887; ENSG00000100346 [Q9P0X4-2]
ENST00000402142; ENSP00000385019; ENSG00000100346 [Q9P0X4-1]
ENST00000404898; ENSP00000384093; ENSG00000100346 [Q9P0X4-4]
ENST00000407673; ENSP00000385680; ENSG00000100346 [Q9P0X4-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8911

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8911

UCSC genome browser

More...
UCSCi
uc003ayc.5 human [Q9P0X4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF129133 mRNA Translation: AAD45251.1
AF142567 mRNA Translation: AAF25722.1
AF211189 mRNA Translation: AAF44626.1
AF393329 mRNA Translation: AAM67414.1
AL008716 Genomic DNA No translation available.
AL022312 Genomic DNA No translation available.
AL022319 Genomic DNA No translation available.
AB032946 mRNA Translation: BAA86434.1
CCDSiCCDS46710.1 [Q9P0X4-1]
CCDS46711.1 [Q9P0X4-4]
RefSeqiNP_001003406.1, NM_001003406.1 [Q9P0X4-4]
NP_066919.2, NM_021096.3 [Q9P0X4-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi114425, 1 interactor
IntActiQ9P0X4, 3 interactors
STRINGi9606.ENSP00000385019

Chemistry databases

BindingDBiQ9P0X4
ChEMBLiCHEMBL5558
DrugBankiDB00381 Amlodipine
DB09231 Benidipine
DB13746 Bioallethrin
DB11148 Butamben
DB11093 Calcium Citrate
DB11348 Calcium Phosphate
DB14481 Calcium phosphate dihydrate
DB09061 Cannabidiol
DB00568 Cinnarizine
DB09235 Efonidipine
DB00153 Ergocalciferol
DB04841 Flunarizine
DB09238 Manidipine
DB14009 Medical Cannabis
DB01388 Mibefradil
DB14011 Nabiximols
DB06152 Nylidrin
DB00617 Paramethadione
DB00421 Spironolactone
DB09498 Strontium chloride Sr-89
DB09089 Trimebutine
DB00909 Zonisamide
DrugCentraliQ9P0X4
GuidetoPHARMACOLOGYi537

Protein family/group databases

TCDBi1.A.1.11.7 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ9P0X4
PhosphoSitePlusiQ9P0X4

Polymorphism and mutation databases

BioMutaiCACNA1I
DMDMi23396521

Proteomic databases

EPDiQ9P0X4
jPOSTiQ9P0X4
MassIVEiQ9P0X4
PaxDbiQ9P0X4
PeptideAtlasiQ9P0X4
PRIDEiQ9P0X4
ProteomicsDBi83622 [Q9P0X4-1]
83623 [Q9P0X4-2]
83624 [Q9P0X4-3]
83625 [Q9P0X4-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
26656 95 antibodies

Genome annotation databases

EnsembliENST00000401624; ENSP00000383887; ENSG00000100346 [Q9P0X4-2]
ENST00000402142; ENSP00000385019; ENSG00000100346 [Q9P0X4-1]
ENST00000404898; ENSP00000384093; ENSG00000100346 [Q9P0X4-4]
ENST00000407673; ENSP00000385680; ENSG00000100346 [Q9P0X4-3]
GeneIDi8911
KEGGihsa:8911
UCSCiuc003ayc.5 human [Q9P0X4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8911
DisGeNETi8911

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CACNA1I
HGNCiHGNC:1396 CACNA1I
HPAiENSG00000100346 Tissue enhanced (adrenal gland, brain, lymphoid tissue, thyroid gland)
MIMi608230 gene
neXtProtiNX_Q9P0X4
OpenTargetsiENSG00000100346
PharmGKBiPA26011

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2302 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000158594
HOGENOMiCLU_000540_2_0_1
InParanoidiQ9P0X4
KOiK04856
OMAiLCEMEAI
OrthoDBi172471at2759
PhylomeDBiQ9P0X4
TreeFamiTF313555

Enzyme and pathway databases

ReactomeiR-HSA-419037 NCAM1 interactions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CACNA1I human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CACNA1I

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8911
PharosiQ9P0X4 Tclin

Protein Ontology

More...
PROi
PR:Q9P0X4
RNActiQ9P0X4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100346 Expressed in primary visual cortex and 111 other tissues
GenevisibleiQ9P0X4 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR030162 CACNA1I
IPR005821 Ion_trans_dom
IPR005445 VDCC_T_a1
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF209 PTHR10037:SF209, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01629 TVDCCALPHA1

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCAC1I_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P0X4
Secondary accession number(s): B0QY12
, B0QY13, B0QY14, O95504, Q5JZ88, Q7Z6S9, Q8NFX6, Q9NZC8, Q9UH15, Q9UH30, Q9ULU9, Q9UNE6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 1, 2000
Last modified: April 22, 2020
This is version 166 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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