Human Gene CACNA1C (ENST00000335762.9) Description and Page Index
  Description: Membrane; Multi-pass membrane protein (By similarity). (from UniProt F5H522)
RefSeq Summary (NM_001129834): This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012].
Gencode Transcript: ENST00000335762.9
Gencode Gene: ENSG00000151067.22
Transcript (Including UTRs)
   Position: hg38 chr12:2,053,298-2,691,410 Size: 638,113 Total Exon Count: 48 Strand: +
Coding Region
   Position: hg38 chr12:2,053,563-2,691,199 Size: 637,637 Coding Exon Count: 48 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:2,053,298-2,691,410)mRNA (may differ from genome)Protein (2163 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F5H522_HUMAN
DESCRIPTION: SubName: Full=Voltage-dependent L-type calcium channel subunit alpha-1C;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: CACNA1C
Diseases sorted by gene-association score: timothy syndrome* (1700), brugada syndrome 3* (1329), brugada syndrome* (563), long qt syndrome* (190), familial long qt syndrome* (151), schizotypal personality disorder (13), diabetic cataract (10), hypokalemic periodic paralysis, type 1 (10), high pressure neurological syndrome (8), right bundle branch block (7), short qt syndrome (7), mood disorder (6), jervell and lange-nielsen syndrome (5), hypertrichotic osteochondrodysplasia cantu type (5), hyperphenylalaninemia (4), long qt syndrome 6 (4), long qt syndrome 1 (3), autism spectrum disorder (2), schizophrenia (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.92 RPKM in Colon - Sigmoid
Total median expression: 171.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -85.00265-0.321 Picture PostScript Text
3' UTR -79.50211-0.377 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom
IPR014873 - VDCC_a1su_IQ
IPR005451 - VDCC_L_a1csu
IPR005446 - VDCC_L_a1su
IPR002077 - VDCCAlpha1

Pfam Domains:
PF08763 - Voltage gated calcium channel IQ domain
PF00520 - Ion transport protein

ModBase Predicted Comparative 3D Structure on F5H522
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK309111 - Homo sapiens cDNA, FLJ99152.
AF465484 - Homo sapiens jejunum L-type calcium channel alpha1C subunit mRNA, complete cds.
AK308652 - Homo sapiens cDNA, FLJ98693.
BC146846 - Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit, mRNA (cDNA clone MGC:181949 IMAGE:9056774), complete cds.
AB209016 - Homo sapiens mRNA for Voltage-dependent L-type calcium channel alpha-1C subunit variant protein.
AJ224873 - Homo sapiens (HLCC105) mRNA for voltage-dependent L-type calcium channel alpha-1C subunit (splice variant).
AY830711 - Homo sapiens clone HLCC125 voltage-dependent L-type calcium channel alpha-1C subunit splice variant mRNA, complete cds, alternatively spliced.
AY830712 - Homo sapiens clone HLCC127 voltage-dependent L-type calcium channel alpha-1C subunit splice variant mRNA, complete cds, alternatively spliced.
AY830713 - Homo sapiens clone HLCC126 voltage-dependent L-type calcium channel alpha-1C subunit splice variant mRNA, complete cds, alternatively spliced.
Z34809 - H.sapiens (HLCC69) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34810 - H.sapiens (HLCC70) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34811 - H.sapiens (HLCC71) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34812 - H.sapiens (HLCC73) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34813 - H.sapiens (HLCC74) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34814 - H.sapiens (HLCC76) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34815 - H.sapiens (HLCC77) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34816 - H.sapiens (HLCC78) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34817 - H.sapiens (HLCC86) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34818 - H.sapiens (HLCC87) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34819 - H.sapiens (HLCC88) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34820 - H.sapiens (HLCC89) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34821 - H.sapiens (HLCC90) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z34822 - H.sapiens (HLCC85) mRNA for voltage-dependent L-type Ca channel alpha 1 subunit (splice variant).
Z74996 - H.sapiens mRNA for voltage-dependent L-type calcium channel, alpha 1C subunit (splice variant).
L04569 - Homo sapiens (clone hHT-1) L-type voltage-dependent calcium channel a1 subunit (hHT) mRNA, complete cds.
L29529 - Homo sapiens (clone HHT-1 variant harboring HH-05) cardiac L-type voltage dependent calcium channel alpha 1 subunit (CACNL1A1) mRNA, complete cds.
L29534 - Homo sapiens cardiac L-type voltage-dependent calcium channel a1 subunit (CACNL1A1) mRNA, complete cds.
L29536 - Homo sapiens calcium channel L-type alpha 1 subunit (CACNL1A1) mRNA, complete cds.
Z26295 - H.sapiens mRNA for L-type calcium channel isoform 1, neuronal subform (partial).
M57971 - Human cardiac L-type calcium channel (CCHL1A1) mRNA, partial cds.
M57972 - Human cardiac muscle L-type calcium channel alpha-1 (CCHL1A1) mRNA, partial cds.
A22922 - H.sapiens mRNA fragment (p1247-9.1.1.2).
A22930 - H.sapiens mRNA fragment (pR9112-10.1.1.1).
JD191987 - Sequence 173011 from Patent EP1572962.
JD151667 - Sequence 132691 from Patent EP1572962.
JD287250 - Sequence 268274 from Patent EP1572962.
AY562396 - Homo sapiens voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10* (CACNA1C) mRNA, partial cds, alternatively spliced.
AY562395 - Homo sapiens voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 9* (CACNA1C) mRNA, partial cds, alternatively spliced.
AJ536834 - Homo sapiens partial mRNA for voltage-dependent L-type calcium channel alpha 1C subunit (CACNA1C gene), long splice variant.
AJ537510 - Homo sapiens partial mRNA for voltage-dependent L-type calcium channel alpha 1C subunit (CACNA1C gene), normal splice variant.
AK302698 - Homo sapiens cDNA FLJ50301 complete cds, highly similar to Voltage-dependent L-type calcium channel subunit alpha-1C.
AK098681 - Homo sapiens cDNA FLJ25815 fis, clone TST07482.
A22934 - H.sapiens mRNA fragment (pR9112-2.1.1.1).
A22928 - H.sapiens mRNA fragment (pR9112-4.1.1.1).
Z26294 - H.sapiens mRNA for L-type calcium channel isoform 1, neuronal subform (partial).
AF070589 - Homo sapiens clones 24595 and 24808 calcium channel L-type alpha 1 subunit mRNA, partial cds.
JD143058 - Sequence 124082 from Patent EP1572962.
JD566524 - Sequence 547548 from Patent EP1572962.
JD520637 - Sequence 501661 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04020 - Calcium signaling pathway
hsa04260 - Cardiac muscle contraction
hsa04270 - Vascular smooth muscle contraction
hsa04720 - Long-term potentiation
hsa04912 - GnRH signaling pathway
hsa04930 - Type II diabetes mellitus
hsa05010 - Alzheimer's disease
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

-  Other Names for This Gene
  Alternate Gene Symbols: AF465484, F5H522, F5H522_HUMAN, uc001qkv.1, uc001qkv.2
UCSC ID: uc001qkv.2
RefSeq Accession: NM_001129834
Protein: F5H522 CCDS: CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CACNA1C:
brugada (Brugada Syndrome)
rws (Long QT Syndrome)
timothy (Timothy Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.