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CACNA1D Gene

protein-coding GIFtS: 59

GC03P053504

calcium channel, voltage-dependent, L type, alpha 1D subunit
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CCHL1A2, CACNL1A2)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
calcium channel, voltage-dependent, L type, alpha 1D subunit¹ ²		calcium channel, neuroendocrine/brain-type, alpha 1 subunit²
CACN4¹ ² ³		OTTHUMP00000212733²
CACH3¹ ² ³		voltage-gated calcium channel alpha subunit Cav1.3²
CACNL1A2² ³ ⁵		calcium channel, L type, alpha-1 polypeptide²
CCHL1A2² ³ ⁵		voltage-gated calcium channel alpha 1 subunit²
Cav1.3¹ ²		voltage-dependent L-type calcium channel subunit alpha-1D²
Voltage-gated calcium channel subunit alpha Cav1.3² ³		Calcium channel, L type, alpha-1 polypeptide, isoform 2³

External Ids:	HGNC: 1391¹	Entrez Gene: 776²	Ensembl: ENSG00000157388⁷	UniProtKB: Q01668³

Export aliases for CACNA1D gene to outside databases

Previous GC identifers: GC03P052645 GC03P052780 GC03P053383 GC03P053486

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668

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-1D gives rise to L-type

calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are

blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).

They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)

summary for CACNA1D:

Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium

influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,

neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct

subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and

gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of

voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.

Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated

dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1D (Cav1.3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNA1D gene promoter:
         CREB   deltaCREB   MRF-2   CUTL1   MEF-2A   RORalpha2   FOXO4   FOXC1   XBP-1   FAC1
         Other transcription factors

Search SABiosciences Chromatin IP Primers for CACNA1D

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CACNA1D

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p14.3 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p14.3

CACNA1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1D gene location

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P053504: view genomic region (about GC identifiers)

Start:	53,528,683 bp from pter
End:	53,846,492 bp from pter
Size:	317,810 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.11 NT_022517.18

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 (See protein sequence)

Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1D

Size: 2161 amino acids; 245141 Da

Subunit: Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta

subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1

subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The

auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via

IQ domain) with CABP1 and CABP4 in a calcium independent manner (By similarity). Interacts with RIMBP2 (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q13916 Q13931 Q9UDC3

Alternative splicing: 2 isoforms: Q01668-1 Q01668-2 (Additional isoforms seem to exist)

Explore the universe of human proteins at neXtProt for CACNA1D: NX_Q01668

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000711.1 NP_001122311.1 NP_001122312.1

ENSEMBL proteins:

ENSP00000288139 ENSP00000409174 ENSP00000418045 ENSP00000418014 ENSP00000288133

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for CACNA1D
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005891	voltage-gated calcium channel complex	IDA	11160515
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	--	--

About this table

CACNA1D for ontologies About GeneDecksing

Antibodies for CACNA1D:

	Millipore Mono- and Polyclonal Antibodies for the study of CACNA1D
	Sigma-Aldrich Antibodies for CACNA1D
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for CACNA1D
	Novus Biologicals Antibody for CACNA1D
	Browse antibodies at Epitomics

Assays for CACNA1D:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CACNA1D
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CACNA1D for domains About GeneDecksing

5 InterPro domains/families:

IPR005446 VDCC_L_a1su

IPR014873 VDCC_a1su_IQ

IPR005821 Ion_trans

IPR002077 VDCCAlpha1

IPR005452 LVDCC_a1dsu

Graphical View of Domain Structure for InterPro Entry Q01668

ProtoNet protein and cluster: Q01668

3 Blocks protein families:

IPB002077 Calcium channel signature

IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature

IPB005452 Voltage-dependent L-type calcium channel alpha-1D subunit signature

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668

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

Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668

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-1D gives rise to L-type

calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are

blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).

They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CACNA1D Sigma-Aldrich shRNA Panels and shRNA for CACNA1D
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CACNA1D OriGene shRNA RFP (see all 3): CACNA1D OriGene basic RS shRNA (see all 3): CACNA1D OriGene siRNA (see all 3): CACNA1D
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CACNA1D

miRNA:		Sigma-Aldrich microRNA Mimics for CACNA1D Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CACNA1D
		7 SABiosciences Assays for microRNAs that regulate CACNA1D:
		hsa-miR-135b hsa-miR-371-3p hsa-miR-489 hsa-miR-519e hsa-miR-1827 hsa-miR-515-3p hsa-miR-135a

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: CACNA1D OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CACNA1D OriGene untagged cDNA clones in CMV expression vector (see all 3): CACNA1D OriGene 3'-UTR clone (see all 3): CACNA1D Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CACNA1D
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for CACNA1D

Genatlas biochemistry entry for CACNA1D:

transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1D subunit,175kDa,dihydropyridine (DHP)

sensitive,isoform 2,neuroendocrine/brain

5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005216	ion channel activity	--	--
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005245	voltage-gated calcium channel activity	IDA	11160515
GO:0005509	calcium ion binding	--	--
GO:0005515	protein binding	--	--

About this table

CACNA1D for ontologies About GeneDecksing

Animal Models: 8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cacna1d):

behavior/neurological	cardiovascular system	endocrine/exocrine gland	growth/size	hearing/vestibular/ear
homeostasis/metabolism	lethality-prenatal/perinatal	nervous system

CACNA1D for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

CACNA1D for pathways About GeneDecksing

3 Millipore Pathways for CACNA1D

	Synaptic transmission- ion currents
	Transcription CREB pathway
	Calcium channels

5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for CACNA1D (see all 6)

	Cardiac β-adrenergic Signaling
	Cellular Effects of Sildenafil (Viagra)
	Maturity Onset Diabetes of Young (MODY) Signaling
	Nitric Oxide Signaling in the Cardiovascular System
	Amyotrophic Lateral Sclerosis Signaling

5/11 Kegg Pathways (Kegg details for CACNA1D) (see all 11):

	hsa04010 MAPK signaling pathway
	hsa04020 Calcium signaling pathway
	hsa04260 Cardiac muscle contraction
	hsa04270 Vascular smooth muscle contraction
	hsa04912 GnRH signaling pathway

SABiosciences Custom Pathway-Focused PCR Arrays for CACNA1D

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CACNA1D

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CACNA1D

5/36 Interacting proteins for CACNA1D (ENSP00000288139³) via UniProtKB, MINT, and/or STRING (see all 36)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CACNB4	ENSP00000201943³	STRING: ENSP00000343563 STRING: ENSP00000201943
CACNA1B	ENSP00000277549³	STRING: ENSP00000277549
CACNA1C	ENSP00000266376³	STRING: ENSP00000266376
CACNA1E	ENSP00000356545³	STRING: ENSP00000356545
CACNA1F	ENSP00000365441³	STRING: ENSP00000365441

About this table

5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006811	ion transport	IEA	--
GO:0006816	calcium ion transport	IDA	11160515
GO:0007188	G-protein signaling, coupled to cAMP nucleotide second messenger	--	--
GO:0007411	axon guidance	TAS	--

About this table

CACNA1D for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

CACNA1D for compounds About GeneDecksing

Sigma-Aldrich Small Molecules for CACNA1D:

Small Molecule - Blocker

Browse drugs & compounds from Enzo Life Sciences

Compounds for CACNA1D available from Tocris Bioscience

Compound	Action	CAS number
FPL 64176	Potent activator of Ca2+ channels (L-type)	[120934-96-5]
Nimodipine	Ca2+ channel blocker (L-type)	[66085-59-4]
(S)-(-)-Bay K 8644	Ca2+-channel activator (L-type)	[98625-26-4]
(�)-Bay K 8644	Ca2+-channel activator (L-type)	[71145-03-4]
Isradipine	Ca2+ channel blocker (L-type)	[75695-93-1]

About this table

2 Novoseek chemical compound relationships for CACNA1D gene

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	54.1	24	1664412 (2), 7760845 (2), 8392192 (1), 1316766 (1) (see all 18)
sodium	7.58	1	15072700 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CACNA1D Sigma-Aldrich shRNA Panels and shRNA for CACNA1D
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CACNA1D OriGene shRNA RFP (see all 3): CACNA1D OriGene basic RS shRNA (see all 3): CACNA1D OriGene siRNA (see all 3): CACNA1D
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CACNA1D

miRNA:		Sigma-Aldrich microRNA Mimics for CACNA1D Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CACNA1D
		7 SABiosciences Assays for microRNAs that regulate CACNA1D:
		hsa-miR-135b hsa-miR-371-3p hsa-miR-489 hsa-miR-519e hsa-miR-1827 hsa-miR-515-3p hsa-miR-135a

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: CACNA1D OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CACNA1D OriGene untagged cDNA clones in CMV expression vector (see all 3): CACNA1D OriGene 3'-UTR Clone (see all 3): CACNA1D Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CACNA1D

Primers:		OriGene genome-wide validated SYBR primer pairs: CACNA1D Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CACNA1D: PPH01379A

REFSEQ mRNAs for CACNA1D gene (3 alternative transcripts):

NM_000720.2 NM_001128839.1 NM_001128840.1

Additional cDNA sequence:

AB209171.1 AK294397.1 AK294585.1 EU363339.1 M76558.1 M83566.1

4 DOTS entries:

DT.92419568 DT.112598 DT.40313005 DT.70100900

24/125 AceView cDNA sequences (see all 125):

AA701888 AI361691 BE672659 BQ016847 R46658 AI914244 CA389011 AA703120

BI758971 BE550599 M83566 C21063 AA885585 AA861160 NM_000720 BE049630

AI908115 AI079271 CD609469 CD609473 CD609467 CK826208 AA437099 BX114568

highest scoring ESTs for CACNA1D:

M76558 BE550599 BF754485 BI015409 BI769856 BQ016847 BQ549084 BQ549571 CD609462 CD609463

Unigene Cluster for CACNA1D:

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

Hs.476358 [show with all ESTs]

Unigene Representative Sequence: NM_000720

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1D

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40a	·	40b	^	41	^	42	^	43	^	44a	·	44b	^	45	^	46	^	47
SP1:
SP2:																																	-
SP3:

About this scheme

ECgene alternative splicing isoforms for CACNA1D
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000288139(uc003dgu.3 uc003dgv.3 uc003dgy.3 uc003dgw.3 uc011bes.1)

ENST00000422281 ENST00000481085 ENST00000464429 ENST00000481478 ENST00000498251

ENST00000350061(uc003dgx.1)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CACNA1D expression in normal and diseased human tissues

¹ / ² / ³

7 probe-sets matching CACNA1D gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39275_at²^{, 3}	U95-A	1	1.00	1.00	0.94	0.42	M76558	1.00	1.00	1.00	1
39276_g_at²^{, 3}	U95-A	1	1.00	1.00	0.79	1.24	M76558	1.00	1.00	1.00	1
91968_at²^{, 3}	U95-E	1	0.75	1.00	0.95	1.40	AI955764	0.60	1.00	0.82	1
207998_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000720	0.60	1.00	0.82	1
210108_at²^{, 3}	U133-A	1	0.82	1.00	--	--	BE550599	0.80	1.00	0.91	1
207998_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210108_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--

About this table

CACNA1D for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

CACNA1D gene electronic northern expression

About these images

CGAP SAGE TAG: GGTCCTAATA

SOURCE GeneReport for Unigene cluster: Hs.476358

Expression variation in blood from EXPOLDB for CACNA1D

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668

Tissue specificity: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex,

hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No

expression in skeletal muscle

Primers:		OriGene genome-wide validated SYBR primer pairs: CACNA1D Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CACNA1D: PPH01379A

SABiosciences Custom PCR Arrays for CACNA1D

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CACNA1D gene from 5/11 species (see all 11)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CACNA1D¹	--	calcium channel, voltage-dependent, L type, alpha 1D more	93.35(n) 97.2(a)	484724 XM_844338.1 XP_849431.1
chimpanzee (Pan troglodytes)	CACNA1D¹	--	calcium channel, voltage-dependent, L type, alpha 1D more	97.86(n) 97.57(a)	460447 XM_001173076.1 XP_001173076.1
cow (Bos taurus)	CACNA1D¹	--	calcium channel, voltage-dependent, L type, alpha 1D more	92.63(n) 97.48(a)	408013 XM_865676.2 XP_870769.1
rat (Rattus norvegicus)	Cacna1d¹	--	calcium channel, voltage-dependent, L type, alpha 1D more	91.04(n) 97.18(a)	29716 NM_017298.1 NP_058994.1
mouse (Mus musculus)	Cacna1d^{1 , 5}	14 (18.43 cM)⁵	calcium channel, voltage-dependent, L type, alpha 1D more^{1, 5}	91.25(n)¹ 97.34(a)¹	12289¹ NM_001083616.1¹ NP_001077085.1¹ AB086123⁵ AI020210⁵ (see all 20)

About this table Species with no ortholog for CACNA1D

ENSEMBL Gene Tree for CACNA1D (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CACNA1D gene

CACNA1A² CACNA1C² CACNA1F² CACNA1S² CACNA1E² CACNA1B²

CACNA1D for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668

Polymorphism: A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine,

has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM)

SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs184323^1,2	--	53528670(-)	`cgctcC/Tgcgcc`	3	--	ng5¹		0	--	--	--	--
rs219847^1,2	C,F,O,A,H,	53533827(-)	`CACAAT/CAGTCT`	3	--	int¹		16		NS EA NA WA	2558
rs312479^1,2	C,	53529013(-)	`GATTTT/AAAAAA`	3	--	ng5¹ ese³ trp³		1		NA	2
rs312480^1,2	C,F,	53529140(-)	`cgttgG/AggCGG`	3	--	ut5¹ ese³		7		NS EA NA	424
rs312481^1,2	C,F,O,A,H,	53551902(-)	`AGAATC/TATTTG`	3	--	int¹		23		NS EA NA WA	2944
rs312484^1,2	C,F,A,	53527289(-)	`GAGACT/CGGAGA`	3	--	ng5¹		8		MN NA EA WA	402
rs312485^1,2	C,A,	53541364(-)	`gctacC/Tatgcc`	3	--	int¹		7		MN NA WA	196
rs312486^1,2	C,F,A,H,	53545454(-)	`CTGCTG/CTGAAT`	3	--	int¹		16		NS EA NA WA	992
rs312487^1,2	C,F,O,A,H,	53545622(-)	`GTCGTA/GCCCTG`	3	--	int¹		26		EA NA NS WA	2376
rs709317^1,2	C,F,O,A,H,	53609610(-)	`CAATGC/TTGTGC`	3	--	int¹		31		NS EA NA WA	3180

About this table

HapMap Linkage Disequilibrium images for CACNA1D (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CACNA1D: --

QIAGEN SeqTarget long-range PCR primers for resequencing CACNA1D

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CACNA1D for disorders About GeneDecksing

OMIM: 114206

1 Novoseek disease relationship for CACNA1D gene

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulinoma	48.5	2	8529524 (1), 7760845 (1)

About this table

Genetic Association Database (GAD): CACNA1D
Human Genome Epidemiology (HuGE) Navigator: CACNA1D (5 documents)

Export disorders and mutations for CACNA1D gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/47 PubMed articles for CACNA1D gene, integrated from 7 sources (see all 47):
(articles sorted by number of sources associating them with CACNA1D)

The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PubMed id 7557998)^{1, 2, 7} Yamada Y.... Seino Y. (1995)
A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. (PubMed id 1664412)^{1, 3, 7} Chin H.M....McBride O.W. (1991)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients. (PubMed id 11424233)^{1, 4} Yamada Y....Seino Y. (2001)
Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PubMed id 1309651)^{1, 2} Williams M.E.... Harpold M.M. (1992)
Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells. (PubMed id 1309948)^{1, 2} Seino S....Bell G.I. (1992)
Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers. (PubMed id 19225208)^{1, 7} Kamide K....Kawano Y. (2009)
L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)¹ Yokoyama K....Hosoya T. (2010)
Transepithelial calcium transport in prolactin-expose d intestine-like Caco-2 monolayer after combinatorial knockdown of TRPV5, TRPV6 and Ca(v)1.3. (PubMed id 19885716)¹ Nakkrasae L.I....Charoenphandhu N. (2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 776	HGNC: 1391	AceView: CACNA1D	Ensembl:ENSG00000157388	euGenes: HUgn776
ECgene: CACNA1D	Kegg: 776	H-InvDB: CACNA1D

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Intellectual Property for CACNA1D gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for CACNA1D gene:
Search GeneIP for patents involving CACNA1D

GeneCards and IP:
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