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CACNA1D

GENERAL INFORMATION

Gene name

 CACNA1D

Gene description

 Calcium channel, voltage-dependent, L type, alpha 1D subunit

Protein class

 Cancer-related genes
Disease related genes
FDA approved drug targets
Plasma proteins
Predicted membrane proteins
Voltage-gated ion channels

Predicted localization

 Membrane

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (pituitary gland)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression at variable levels in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA020215
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland)

GENE INFORMATION

Gene name

 CACNA1D (HGNC Symbol)

Synonyms

 CACH3, CACN4, CACNL1A2, Cav1.3, CCHL1A2

Description

 Calcium channel, voltage-dependent, L type, alpha 1D subunit (HGNC Symbol)

Entrez gene summary

 Voltage-dependent 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Chromosome

 3

Cytoband

 p21.1

Chromosome location (bp)

 53494656 - 53813733

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000157388 (version 83.38)

Entrez gene

 776

UniProt

 Q01668 (UniProt - Evidence at protein level)

neXtProt

 NX_Q01668

Antibodypedia

 CACNA1D antibodies

PROTEIN BROWSER
CACNA1D-001
CACNA1D-002
CACNA1D-003
CACNA1D-004
CACNA1D-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CACNA1D-001
ENSP00000288139
ENST00000288139
Q01668 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1D
Show all
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006112 [energy reserve metabolic process]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007188 [adenylate cyclase-modulating G-protein coupled receptor signaling pathway]
GO:0007411 [axon guidance]
GO:0007605 [sensory perception of sound]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0030018 [Z disc]
GO:0030506 [ankyrin binding]
GO:0034220 [ion transmembrane transport]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050796 [regulation of insulin secretion]
GO:0051393 [alpha-actinin binding]
GO:0051928 [positive regulation of calcium ion transport]
GO:0055085 [transmembrane transport]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086007 [voltage-gated calcium channel activity involved in cardiac muscle cell action potential]
GO:0086012 [membrane depolarization during cardiac muscle cell action potential]
GO:0086046 [membrane depolarization during SA node cell action potential]
GO:0086059 [voltage-gated calcium channel activity involved SA node cell action potential]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:1901016 [regulation of potassium ion transmembrane transporter activity]
GO:1901379 [regulation of potassium ion transmembrane transport]
Show all
 2181 aa
247.6 kDa 		No >9
CACNA1D-002
ENSP00000409174
ENST00000422281
Q01668 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1D
Show all
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006112 [energy reserve metabolic process]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007188 [adenylate cyclase-modulating G-protein coupled receptor signaling pathway]
GO:0007411 [axon guidance]
GO:0007605 [sensory perception of sound]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0030018 [Z disc]
GO:0030506 [ankyrin binding]
GO:0034220 [ion transmembrane transport]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050796 [regulation of insulin secretion]
GO:0051393 [alpha-actinin binding]
GO:0051928 [positive regulation of calcium ion transport]
GO:0055085 [transmembrane transport]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086007 [voltage-gated calcium channel activity involved in cardiac muscle cell action potential]
GO:0086012 [membrane depolarization during cardiac muscle cell action potential]
GO:0086046 [membrane depolarization during SA node cell action potential]
GO:0086059 [voltage-gated calcium channel activity involved SA node cell action potential]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:1901016 [regulation of potassium ion transmembrane transporter activity]
GO:1901379 [regulation of potassium ion transmembrane transport]
Show all
 2137 aa
242.4 kDa 		No >9
CACNA1D-003
ENSP00000288133
ENST00000350061
Q01668 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1D
Show all
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006112 [energy reserve metabolic process]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007188 [adenylate cyclase-modulating G-protein coupled receptor signaling pathway]
GO:0007411 [axon guidance]
GO:0007605 [sensory perception of sound]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0030018 [Z disc]
GO:0030506 [ankyrin binding]
GO:0034220 [ion transmembrane transport]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050796 [regulation of insulin secretion]
GO:0051393 [alpha-actinin binding]
GO:0051928 [positive regulation of calcium ion transport]
GO:0055085 [transmembrane transport]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086007 [voltage-gated calcium channel activity involved in cardiac muscle cell action potential]
GO:0086012 [membrane depolarization during cardiac muscle cell action potential]
GO:0086046 [membrane depolarization during SA node cell action potential]
GO:0086059 [voltage-gated calcium channel activity involved SA node cell action potential]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:1901016 [regulation of potassium ion transmembrane transporter activity]
GO:1901379 [regulation of potassium ion transmembrane transport]
Show all
 2161 aa
245.1 kDa 		No >9
CACNA1D-004
ENSP00000418014
ENST00000481478
Q59GD8 [Direct mapping]
Calcium channel, voltage-dependent, L type, alpha 1D subunit variant; Voltage-dependent L-type calcium channel subunit alpha-1D
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 1854 aa
211.5 kDa 		No >9
CACNA1D-007
ENSP00000418045
ENST00000481085
H7C4S8 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1D
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 264 aa
30.3 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.