Q9P0X4 (CAC1I_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 104.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 2223 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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 expression, cell motility, cell division and cell death. Isoform alpha-1I 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. |
| Subunit structure | Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity. Ref.6 |
| Subcellular location | |
| Tissue specificity | Brain specific. |
| Domain | 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. |
| Post-translational modification | In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II By similarity. |
| Sequence similarities | Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily. [View classification] |
Ontologies
| Keywords | |
|---|---|
| Biological process | Calcium transport Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| Ligand | Calcium |
| Molecular function | Calcium channel Ion channel Voltage-gated channel |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | axon guidance Traceable author statement. Source: Reactome signal transductionTraceable author statement Ref.1. Source: ProtInc |
| Cellular_component | voltage-gated calcium channel complex Non-traceable author statement. Source: UniProtKB |
| Molecular_function | low voltage-gated calcium channel activity Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CATSPER1 | Q8NEC5 | 5 | EBI-1220829,EBI-744545 | |
| CATSPER2 | Q96P56 | 3 | EBI-1220829,EBI-2215024 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P0X4-1) Also known as: Delta36b; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9P0X4-2) The sequence of this isoform differs from the canonical sequence as follows: 2010-2223: ATGSDTSLDA...PGDAASKRKR → VPTPPRP | ||||||
| Isoform 3 (identifier: Q9P0X4-3) 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 | ||||||
| Isoform 4 (identifier: Q9P0X4-4) The sequence of this isoform differs from the canonical sequence as follows: 488-523: HGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRE → Q |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2223 | 2223 | Voltage-dependent T-type calcium channel subunit alpha-1I | PRO_0000053957 | |||||
Regions | |||||||||
| Topological domain | 1 – 78 | 78 | Cytoplasmic Potential | ||||||
| Transmembrane | 79 – 99 | 21 | Helical; Name=S1 of repeat I; Potential | ||||||
| Topological domain | 100 – 120 | 21 | Extracellular Potential | ||||||
| Transmembrane | 121 – 141 | 21 | Helical; Name=S2 of repeat I; Potential | ||||||
| Topological domain | 142 – 148 | 7 | Cytoplasmic Potential | ||||||
| Transmembrane | 149 – 168 | 20 | Helical; Name=S3 of repeat I; Potential | ||||||
| Topological domain | 169 – 173 | 5 | Extracellular Potential | ||||||
| Transmembrane | 174 – 191 | 18 | Helical; Name=S4 of repeat I; Potential | ||||||
| Topological domain | 192 – 211 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 212 – 232 | 21 | Helical; Name=S5 of repeat I; Potential | ||||||
| Topological domain | 233 – 377 | 145 | Extracellular Potential | ||||||
| Transmembrane | 378 – 398 | 21 | Helical; Name=S6 of repeat I; Potential | ||||||
| Topological domain | 399 – 640 | 242 | Cytoplasmic Potential | ||||||
| Transmembrane | 641 – 661 | 21 | Helical; Name=S1 of repeat II; Potential | ||||||
| Topological domain | 662 – 676 | 15 | Extracellular Potential | ||||||
| Transmembrane | 677 – 697 | 21 | Helical; Name=S2 of repeat II; Potential | ||||||
| Topological domain | 698 – 702 | 5 | Cytoplasmic Potential | ||||||
| Transmembrane | 703 – 721 | 19 | Helical; Name=S3 of repeat II; Potential | ||||||
| Topological domain | 722 – 729 | 8 | Extracellular Potential | ||||||
| Transmembrane | 730 – 753 | 24 | Helical; Name=S4 of repeat II; Potential | ||||||
| Topological domain | 754 – 764 | 11 | Cytoplasmic Potential | ||||||
| Transmembrane | 765 – 785 | 21 | Helical; Name=S5 of repeat II; Potential | ||||||
| Topological domain | 786 – 841 | 56 | Extracellular Potential | ||||||
| Transmembrane | 842 – 862 | 21 | Helical; Name=S6 of repeat II; Potential | ||||||
| Topological domain | 863 – 1166 | 304 | Cytoplasmic Potential | ||||||
| Transmembrane | 1167 – 1187 | 21 | Helical; Name=S1 of repeat III; Potential | ||||||
| Topological domain | 1188 – 1209 | 22 | Extracellular Potential | ||||||
| Transmembrane | 1210 – 1230 | 21 | Helical; Name=S2 of repeat III; Potential | ||||||
| Topological domain | 1231 – 1244 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 1245 – 1265 | 21 | Helical; Name=S3 of repeat III; Potential | ||||||
| Topological domain | 1266 – 1272 | 7 | Extracellular Potential | ||||||
| Transmembrane | 1273 – 1294 | 22 | Helical; Name=S4 of repeat III; Potential | ||||||
| Topological domain | 1295 – 1304 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 1305 – 1325 | 21 | Helical; Name=S5 of repeat III; Potential | ||||||
| Topological domain | 1326 – 1410 | 85 | Extracellular Potential | ||||||
| Transmembrane | 1411 – 1431 | 21 | Helical; Name=S6 of repeat III; Potential | ||||||
| Topological domain | 1432 – 1485 | 54 | Cytoplasmic Potential | ||||||
| Transmembrane | 1486 – 1506 | 21 | Helical; Name=S1 of repeat IV; Potential | ||||||
| Topological domain | 1507 – 1522 | 16 | Extracellular Potential | ||||||
| Transmembrane | 1523 – 1543 | 21 | Helical; Name=S2 of repeat IV; Potential | ||||||
| Topological domain | 1544 – 1556 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 1557 – 1577 | 21 | Helical; Name=S3 of repeat IV; Potential | ||||||
| Topological domain | 1578 – 1583 | 6 | Extracellular Potential | ||||||
| Transmembrane | 1584 – 1607 | 24 | Helical; Name=S4 of repeat IV; Potential | ||||||
| Topological domain | 1608 – 1621 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 1622 – 1642 | 21 | Helical; Name=S5 of repeat IV; Potential | ||||||
| Topological domain | 1643 – 1709 | 67 | Extracellular Potential | ||||||
| Transmembrane | 1710 – 1730 | 21 | Helical; Name=S6 of repeat IV; Potential | ||||||
| Topological domain | 1731 – 2223 | 493 | Cytoplasmic Potential | ||||||
| Repeat | 66 – 401 | 336 | I | ||||||
| Repeat | 626 – 865 | 240 | II | ||||||
| Repeat | 1157 – 1434 | 278 | III | ||||||
| Repeat | 1472 – 1733 | 262 | IV | ||||||
| Compositional bias | 608 – 613 | 6 | Poly-Glu | ||||||
| Compositional bias | 1775 – 1783 | 9 | Poly-Gly | ||||||
| Compositional bias | 2110 – 2120 | 11 | Poly-Gly | ||||||
| Compositional bias | 2138 – 2145 | 8 | Poly-Pro | ||||||
Sites | |||||||||
| Site | 357 | 1 | Calcium ion selectivity and permeability By similarity | ||||||
| Site | 821 | 1 | Calcium ion selectivity and permeability By similarity | ||||||
| Site | 1380 | 1 | Calcium ion selectivity and permeability By similarity | ||||||
| Site | 1678 | 1 | Calcium ion selectivity and permeability By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 173 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 244 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 311 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1342 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1345 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 488 – 523 | 36 | HGKTK…HSGRE → Q in isoform 3 and isoform 4. | VSP_000950 | |||||
| Alternative sequence | 2010 – 2223 | 214 | ATGSD…SKRKR → VPTPPRP in isoform 2 and isoform 3. | VSP_000951 | |||||
| Natural variant | 1040 | 1 | I → V. Ref.3 Corresponds to variant rs136853 [ dbSNP | Ensembl ]. | VAR_013883 | |||||
| Natural variant | 1513 | 1 | T → M. Corresponds to variant rs8141262 [ dbSNP | Ensembl ]. | VAR_048745 | |||||
| Natural variant | 1782 | 1 | G → A. Corresponds to variant rs2294369 [ dbSNP | Ensembl ]. | VAR_013884 | |||||
| Natural variant | 1782 | 1 | G → R. Corresponds to variant rs2294369 [ dbSNP | Ensembl ]. | VAR_020050 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit." Mittman S., Guo J., Emerick M.C., Agnew W.S. Neurosci. Lett. 269:121-124(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Brain. |
| [2] | "Specific properties of T-type calcium channels generated by the human alpha1I subunit." Monteil A., Chemin J., Leuranguer V., Altier C., Mennessier G., Bourinet E., Lory P., Nargeot J. J. Biol. Chem. 275:16530-16535(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Brain. |
| [3] | "Cloning and expression of the human T-type channel Ca(v)3.3: insights into prepulse facilitation." Gomora J.C., Murbartian J., Arias J.M., Lee J.-H., Perez-Reyes E. Biophys. J. 83:229-241(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT VAL-1040. Tissue: Brain. |
| [4] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1200-2223 (ISOFORM 1). Tissue: Brain. |
| [6] | "Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity." Zhang D., Chen J., Saraf A., Cassar S., Han P., Rogers J.C., Brioni J.D., Sullivan J.P., Gopalakrishnan M. J. Biol. Chem. 281:22332-22341(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CATSPER1 AND CATSPER2. |
| [7] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF129133 mRNA. Translation: AAD45251.1. AF142567 mRNA. Translation: AAF25722.1. AF211189 mRNA. Translation: AAF44626.1. AF393329 mRNA. Translation: AAM67414.1. AL008716, AL022312, AL022319 Genomic DNA. Translation: CAI17903.1. AL022312, AL008716, AL022319 Genomic DNA. Translation: CAI19180.1. AL022319, AL022312, AL008716 Genomic DNA. Translation: CAI19662.1. AL022312, AL008716, AL022319 Genomic DNA. Translation: CAQ08289.1. AL022312, AL008716, AL022319 Genomic DNA. Translation: CAQ08290.1. AL022312, AL008716, AL022319 Genomic DNA. Translation: CAQ08291.1. AL008716, AL022312, AL022319 Genomic DNA. Translation: CAQ09516.1. AL008716, AL022312, AL022319 Genomic DNA. Translation: CAQ09517.1. AL008716, AL022312, AL022319 Genomic DNA. Translation: CAQ09518.1. AL022319, AL008716, AL022312 Genomic DNA. Translation: CAQ09681.1. AL022319, AL008716, AL022312 Genomic DNA. Translation: CAQ09682.1. AL022319, AL008716, AL022312 Genomic DNA. Translation: CAQ09683.1. AB032946 mRNA. Translation: BAA86434.1. |
| IPI | IPI00152899. IPI00217484. IPI00412316. IPI00938135. |
| RefSeq | NP_001003406.1. NM_001003406.1. NP_066919.2. NM_021096.3. |
| UniGene | Hs.125116. |
3D structure databases | |
| ProteinModelPortal | Q9P0X4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P0X4. 3 interactions. |
Protein family/group databases | |
| TCDB | 1.A.1.11.7. voltage-gated ion channel (VIC) superfamily. |
PTM databases | |
| PhosphoSite | Q9P0X4. |
Polymorphism databases | |
| DMDM | 23396521. |
Proteomic databases | |
| PaxDb | Q9P0X4. |
| PRIDE | Q9P0X4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000401624; ENSP00000383887; ENSG00000100346. ENST00000402142; ENSP00000385019; ENSG00000100346. ENST00000404898; ENSP00000384093; ENSG00000100346. ENST00000407673; ENSP00000385680; ENSG00000100346. |
| GeneID | 8911. |
| KEGG | hsa:8911. |
| UCSC | uc003ayc.3. human. uc003ayd.3. human. uc003aye.3. human. uc003ayf.3. human. |
Organism-specific databases | |
| CTD | 8911. |
| GeneCards | GC22P039966. |
| HGNC | HGNC:1396. CACNA1I. |
| MIM | 608230. gene. |
| neXtProt | NX_Q9P0X4. |
| PharmGKB | PA26011. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1226. |
| HOVERGEN | HBG050764. |
| KO | K04856. |
| OrthoDB | EOG4F4S97. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
Gene expression databases | |
| ArrayExpress | Q9P0X4. |
| Bgee | Q9P0X4. |
| Genevestigator | Q9P0X4. |
Family and domain databases | |
| InterPro | IPR005821. Ion_trans_dom. IPR005445. VDCC_T_a1su. IPR002077. VDCCAlpha1. [Graphical view] |
| Pfam | PF00520. Ion_trans. 4 hits. [Graphical view] |
| PRINTS | PR00167. CACHANNEL. PR01629. TVDCCALPHA1. |
| ProtoNet | Search... |
Other | |
| BindingDB | Q9P0X4. |
| ChEMBL | CHEMBL5558. |
| ChiTaRS | CACNA1I. human. |
| DrugBank | DB04841. Flunarizine. DB00617. Paramethadione. DB00661. Verapamil. |
| GenomeRNAi | 8911. |
| NextBio | 33488. |
| SOURCE | Search... |
Entry information
| Entry name | CAC1I_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P0X4 Secondary accession number(s): B0QY12 Q9UNE6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
