Human Gene CACNA1G (ENST00000358244.9) from GENCODE V44
  Description: Homo sapiens calcium voltage-gated channel subunit alpha1 G (CACNA1G), transcript variant 14, mRNA. (from RefSeq NM_198376)
RefSeq Summary (NM_198376): Voltage-sensitive calcium channels 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 gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011].
Gencode Transcript: ENST00000358244.9
Gencode Gene: ENSG00000006283.18
Transcript (Including UTRs)
   Position: hg38 chr17:50,561,460-50,627,265 Size: 65,806 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg38 chr17:50,561,460-50,626,751 Size: 65,292 Coding Exon Count: 35 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:50,561,460-50,627,265)mRNA (may differ from genome)Protein (2171 aa)
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-  Comments and Description Text from UniProtKB
  ID: CAC1G_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent T-type calcium channel subunit alpha-1G; AltName: Full=Cav3.1c; AltName: Full=NBR13; AltName: Full=Voltage-gated calcium channel subunit alpha Cav3.1;
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. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by 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.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression.
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.
DOMAIN: The linker region between repeat III and IV probably play a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane, this by interfering/restricting its lateral diffusion.
PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.

-  Primer design for this transcript
 

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CACNA1G
Diseases sorted by gene-association score: spinocerebellar ataxia 42* (1579), central pain syndrome (17), childhood absence epilepsy (6), osteogenesis imperfecta, type i (3), colorectal cancer (3)
* = 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: 14.30 RPKM in Brain - Cerebellum
Total median expression: 70.15 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
3' UTR -154.90514-0.301 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
IPR005445 - VDCC_T_a1su
IPR002077 - VDCCAlpha1

Pfam Domains:
PF00520 - Ion transport protein

ModBase Predicted Comparative 3D Structure on O43497
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-  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:0005248 voltage-gated sodium channel activity
GO:0005262 calcium channel activity
GO:0008332 low voltage-gated calcium channel activity
GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential
GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential
GO:0097110 scaffold protein binding

Biological Process:
GO:0001508 action potential
GO:0002027 regulation of heart rate
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007268 chemical synaptic transmission
GO:0010045 response to nickel cation
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0055085 transmembrane transport
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086010 membrane depolarization during action potential
GO:0086015 SA node cell action potential
GO:0086016 AV node cell action potential
GO:0086018 SA node cell to atrial cardiac muscle cell signalling
GO:0086027 AV node cell to bundle of His cell signaling
GO:0086045 membrane depolarization during AV node cell action potential
GO:0086046 membrane depolarization during SA node cell action potential
GO:0086091 regulation of heart rate by cardiac conduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC110995 - Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit, mRNA (cDNA clone MGC:117234 IMAGE:5502027), complete cds.
AF124351 - Homo sapiens T-type calcium channel alpha 1G (CACNA1G) mRNA, partial cds.
AF190860 - Homo sapiens low voltage-activated T-type calcium channel alpha 1G splice variant CavT.1a (CACNA1G) mRNA, complete cds.
AF126965 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit b isoform (CACNA1G) mRNA, complete cds.
AF126966 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit a isoform (CACNA1G) mRNA, complete cds.
AB012043 - Homo sapiens mRNA for NBR13, complete cds.
KJ534993 - Homo sapiens clone CACNA1G_iso-B_fetal-F10 voltage-dependent T-type calcium channel alpha 1G subunit isoform B (CACNA1G) mRNA, complete cds, alternatively spliced.
KJ535064 - Homo sapiens clone CACNA1G_iso-A_fetal-F15 voltage-dependent T-type calcium channel alpha 1G subunit isoform A (CACNA1G) mRNA, complete cds, alternatively spliced.
AF227744 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform ae (CACNA1G) mRNA, complete cds.
AF227745 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform aef (CACNA1G) mRNA, complete cds.
AF227746 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform af (CACNA1G) mRNA, complete cds.
AF227747 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform bc (CACNA1G) mRNA, complete cds.
AF227748 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform bcd (CACNA1G) mRNA, complete cds.
AF227749 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform bce (CACNA1G) mRNA, complete cds.
AF227750 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform bcef (CACNA1G) mRNA, complete cds.
AF227751 - Homo sapiens voltage-dependent calcium channel alpha 1G subunit isoform be (CACNA1G) mRNA, complete cds.
DQ494449 - Homo sapiens T calcium channel alpha 1G subunit variant 17 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494450 - Homo sapiens T calcium channel alpha 1G subunit variant 25 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494451 - Homo sapiens T calcium channel alpha 1G subunit variant 33 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494452 - Homo sapiens T calcium channel alpha 1G subunit variant 49 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494453 - Homo sapiens T calcium channel alpha 1G subunit variant 57 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494454 - Homo sapiens T calcium channel alpha 1G subunit variant 88 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494455 - Homo sapiens T calcium channel alpha 1G subunit variant 89 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494456 - Homo sapiens T calcium channel alpha 1G subunit variant 93 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494457 - Homo sapiens T calcium channel alpha 1G subunit variant 137 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494458 - Homo sapiens T calcium channel alpha 1G subunit variant 145 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494459 - Homo sapiens T calcium channel alpha 1G subunit variant 153 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494460 - Homo sapiens T calcium channel alpha 1G subunit variant 157 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494461 - Homo sapiens T calcium channel alpha 1G subunit variant 169 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494462 - Homo sapiens T calcium channel alpha 1G subunit variant 177 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494463 - Homo sapiens T calcium channel alpha 1G subunit variant 184 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494464 - Homo sapiens T calcium channel alpha 1G subunit variant 185 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494465 - Homo sapiens T calcium channel alpha 1G subunit variant 189 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494466 - Homo sapiens T calcium channel alpha 1G subunit variant 209 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494467 - Homo sapiens T calcium channel alpha 1G subunit variant 216 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494468 - Homo sapiens T calcium channel alpha 1G subunit variant 217 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494469 - Homo sapiens T calcium channel alpha 1G subunit variant 221 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494470 - Homo sapiens T calcium channel alpha 1G subunit variant 223 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494471 - Homo sapiens T calcium channel alpha 1G subunit variant 249 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494472 - Homo sapiens T calcium channel alpha 1G subunit variant 313 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494473 - Homo sapiens T calcium channel alpha 1G subunit variant 409 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494474 - Homo sapiens T calcium channel alpha 1G subunit variant 441 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494475 - Homo sapiens T calcium channel alpha 1G subunit variant 441-d81 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494476 - Homo sapiens T calcium channel alpha 1G subunit variant 473 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494477 - Homo sapiens T calcium channel alpha 1G subunit variant 473-d75 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494478 - Homo sapiens T calcium channel alpha 1G subunit variant 473-d81 (CACNA1G) mRNA, complete cds, alternatively spliced.
DQ494479 - Homo sapiens T calcium channel alpha 1G subunit variant 477 (CACNA1G) mRNA, complete cds, alternatively spliced.
AF134985 - Homo sapiens T calcium channel alpha1G subunit (CACNA1G) mRNA, complete cds.
AF134986 - Homo sapiens T calcium channel alpha1G subunit (CACNA1G) mRNA, complete cds.
AB032949 - Homo sapiens mRNA for KIAA1123 protein, partial cds.
AK296513 - Homo sapiens cDNA FLJ51880 complete cds, highly similar to Homo sapiens calcium channel, voltage-dependent, alpha 1G subunit, transcript variant 11, mRNA.
LF212429 - JP 2014500723-A/19932: Polycomb-Associated Non-Coding RNAs.
MA448006 - JP 2018138019-A/19932: Polycomb-Associated Non-Coding RNAs.
LF209261 - JP 2014500723-A/16764: Polycomb-Associated Non-Coding RNAs.
MA444838 - JP 2018138019-A/16764: Polycomb-Associated Non-Coding RNAs.
AH007322 - Homo sapiens chromosome 17 T-type calcium channel alpha1G (CACNA1G) mRNA, partial cds.
JD386778 - Sequence 367802 from Patent EP1572962.
JD114231 - Sequence 95255 from Patent EP1572962.
JD110617 - Sequence 91641 from Patent EP1572962.
JD464688 - Sequence 445712 from Patent EP1572962.
JD150402 - Sequence 131426 from Patent EP1572962.
JD038065 - Sequence 19089 from Patent EP1572962.
JD038359 - Sequence 19383 from Patent EP1572962.
JD104550 - Sequence 85574 from Patent EP1572962.
JD553345 - Sequence 534369 from Patent EP1572962.
JD179898 - Sequence 160922 from Patent EP1572962.
JD129389 - Sequence 110413 from Patent EP1572962.
JD176771 - Sequence 157795 from Patent EP1572962.
JD451353 - Sequence 432377 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04020 - Calcium signaling pathway
hsa04930 - Type II diabetes mellitus

Reactome (by CSHL, EBI, and GO)

Protein O43497 (Reactome details) participates in the following event(s):

R-HSA-525833 NCAM1 interacts with T- and L-type VDCC
R-HSA-419037 NCAM1 interactions
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CAC1G_HUMAN, ENST00000358244.1, ENST00000358244.2, ENST00000358244.3, ENST00000358244.4, ENST00000358244.5, ENST00000358244.6, ENST00000358244.7, ENST00000358244.8, KIAA1123, NM_198376, O43497, O43498, O94770, Q9NYU4, Q9NYU5, Q9NYU6, Q9NYU7, Q9NYU8, Q9NYU9, Q9NYV0, Q9NYV1, Q9UHN9, Q9UHP0, Q9ULU6, Q9UNG7, Q9Y5T2, Q9Y5T3, uc002irj.1, uc002irj.2, uc002irj.3
UCSC ID: ENST00000358244.9
RefSeq Accession: NM_198376
Protein: O43497 (aka CAC1G_HUMAN or CCAG_HUMAN)
CCDS: CCDS45733.1, CCDS45735.1, CCDS45736.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS58566.1, CCDS58567.1, CCDS58571.1, CCDS58573.1, CCDS58575.1, CCDS58576.1

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