CACNA1H

GENE INFORMATION

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Gene name

CACNA1H (HGNC Symbol)

Synonyms

Cav3.2

Description

calcium channel, voltage-dependent, T type, alpha 1H subunit (HGNC Symbol)

Entrez gene summary

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Chromosome

16 (Chromosome progress)

Cytoband

p13.3

Chromosome location (bp)

1203241 - 1271771

Ensembl

ENSG00000196557 (version 73.37)

Entrez gene

8912

UniProt

O95180 (UniProt - Evidence at protein level)

neXtProt

NX_O95180

Antibodypedia

CACNA1H antibodies
 

PROTEIN VIEW

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CACNA1H-001
 
CACNA1H-002
 
CACNA1H-003
 
CACNA1H-004
 
CACNA1H-005
 
CACNA1H-006
 
CACNA1H-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNA1H-001 ENSP00000334198
ENST00000348261
O95180
Show all »
Show » Show » 2353 259.2 No >9
CACNA1H-002 ENSP00000455840
ENST00000565831
O95180
Show all »
Show » Show » 2347 258.5 No >9
CACNA1H-003 ENSP00000457555
ENST00000564231
Show » Show » 1084 119.5 No >9
CACNA1H-004 ENSP00000454990
ENST00000569107
Show » Show » 1100 120.9 No >9
CACNA1H-005 ENSP00000454581
ENST00000562079
Show » Show » 1078 118.9 No >9
CACNA1H-006 ENSP00000455512
ENST00000564927
Show » Show » 897 98.5 No 6
CACNA1H-201 ENSP00000351401
ENST00000358590
O95180
Show all »
Show » Show » 2347 258.5 No >9