CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CACNA1Gprovided by HGNC
Official Full Name: calcium channel, voltage-dependent, T type, alpha 1G subunitprovided by HGNC
Primary source: HGNC:1394
See related: Ensembl:ENSG00000006283; HPRD:04961; MIM:604065; Vega:OTTHUMG00000162180
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NBR13; Cav3.1; Ca(V)T.1
Summary: 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]

Genomic context

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Location :: 17q22

Sequence :: Chromosome: 17; NC_000017.10 (48638429..48704835)

See CACNA1G in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Ca(V)3.1 channels represent a likely pathway for Fe(2) entry into cells.
Title: Fe²⁺ block and permeation of CaV3.1 (α1G) T-type calcium channels: candidate mechanism for non-transferrin-mediated Fe²⁺ influx.
Cd(2) carried sizable inward currents through Ca(v)3.1 channels (210 +/- 20 pA at -60 mV with 2 mM Cd(2)).
Title: Cd²⁺ block and permeation of CaV3.1 (α1G) T-type calcium channels: candidate mechanism for Cd²⁺ influx.
The abnormal mRNA expressions of T-type channel alpha1H and alpha1G may be one of the causes of declined semen quality and infertility in varicocele patients.
Title: [Decreased mRNA expressions of T-type channel alpha1H and alpha1G in the sperm of varicocele patients and their implication].
Augmentation of CaV3.1 currents by Ras-ERK activation is associated with enhanced trafficking of channels to the plasma membrane.
Title: ZnT-1 enhances the activity and surface expression of T-type calcium channels through activation of Ras-ERK signaling.
Cav3.1 channels may contribute to the repression of tumor proliferation and the promotion of apoptosis mediated via Cav3.1-specific calcium signals
Title: T-type voltage-activated calcium channel Cav3.1, but not Cav3.2, is involved in the inhibition of proliferation and apoptosis in MCF-7 human breast cancer cells.
Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
Title: Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
The function of T-type Ca(2+) channels is important for the proliferation of human ovarian cancer cells.
Title: Blockade of T-type Ca(2+) channels inhibits human ovarian cancer cell proliferation.
establishing CACNA1G as a novel candidate gene for autism, these alleles do not contribute a sufficient genetic effect to explain the observed linkage, indicating that there is substantial genetic heterogeneity despite the clear linkage signal
Title: High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.
Results reveal an intracellular WPb-independent P-selectin pool in pulmonary capillary endothelium, where the regulated P-selectin surface expression is triggered by Ca(2+) transients evoked through activation of the alpha(1G) T-type channel.
Title: Alpha1G T-type calcium channel selectively regulates P-selectin surface expression in pulmonary capillary endothelium.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

Submit: New GeneRIF Correction See all (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
O43497	Q9NRR5	UBQLN4		HPRD	PubMed
BioGRID:114427	BioGRID:121223	UBQLN4		BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Axon guidance, organism-specific biosystem (from REACTOME)
Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
Calcium signaling pathway, organism-specific biosystem (from KEGG)
Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
Calcium signaling pathway, conserved biosystem (from KEGG)
Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
Circadian entrainment, organism-specific biosystem (from KEGG)
Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
Circadian entrainment, conserved biosystem (from KEGG)
Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
MAPK signaling pathway, organism-specific biosystem (from KEGG)
MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
MAPK signaling pathway, conserved biosystem (from KEGG)
MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
NCAM1 interactions, organism-specific biosystem (from REACTOME)
NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
Nicotine Activity on Chromaffin Cells, organism-specific biosystem (from WikiPathways)
Nicotine Activity on Chromaffin Cells, organism-specific biosystemNicotine is an alkaloid found in tobacco plants. It is a substance that acts as a stimulant in humans and is one of the main factors responsible for tobacco dependence. When nicotine enters the body,...
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
Regulation of Wnt-mediated beta catenin signaling and target gene transcription
Type II diabetes mellitus, organism-specific biosystem (from KEGG)
Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
Type II diabetes mellitus, conserved biosystem (from KEGG)
Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...

General gene information

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Markers

D17S747 (e-PCR)
- UniSTS:59409

CACNA1G-1 (e-PCR)
- UniSTS:510336

RH78047 (e-PCR)
- UniSTS:32401

RH93018 (e-PCR)
- UniSTS:92634

Homology

Homologs of the CACNA1G gene: The CACNA1G gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
low voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info
scaffold protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
calcium ion import	IDA Inferred from Direct Assay more info
regulation of atrial cardiac muscle cell membrane depolarization	IEA Inferred from Electronic Annotation more info
regulation of heart rate	IEA Inferred from Electronic Annotation more info
regulation of membrane potential	IDA Inferred from Direct Assay more info
response to nickel cation	IEA Inferred from Electronic Annotation more info
synaptic transmission	IEA Inferred from Electronic Annotation more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
voltage-gated calcium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: voltage-dependent T-type calcium channel subunit alpha-1G

Names: voltage-dependent T-type calcium channel subunit alpha-1G; cav3.1c; voltage-gated calcium channel subunit alpha Cav3.1; voltage-dependent calcium channel alpha 1G subunit, isoform 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032024.1 RefSeqGene

Range

5001..71407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256324.1 → NP_001243253.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 16

Status: REVIEWED

Description

Transcript Variant: This variant (16) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (16) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227751, BC110995, DQ494460, R43876

Consensus CDS

CCDS58568.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R07

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000423155, OTTHUMP00000221594, ENST00000515411, OTTHUMT00000367938

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 398

Ion_trans; Ion transport protein

pfam08016
Location:1630 – 1833
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_001256325.1 → NP_001243254.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 17

Status: REVIEWED

Description

Transcript Variant: This variant (17) has an additional segment in the central region and lacks two consecutive exons in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (17) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494471, R43876

Consensus CDS

CCDS58569.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ6

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000423317, OTTHUMP00000221573, ENST00000514079, OTTHUMT00000367907

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 396

Ion_trans; Ion transport protein

pfam08016
Location:1655 – 1858
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_001256326.1 → NP_001243255.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 18

Status: REVIEWED

Description

Transcript Variant: This variant (18) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (18) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494479, R43876

Consensus CDS

CCDS58574.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QY8

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000426172, OTTHUMP00000221564, ENST00000513689, OTTHUMT00000367897

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 403

Ion_trans; Ion transport protein

pfam08016
Location:1603 – 1806
Blast Score: 128

PKD_channel; Polycystin cation channel
NM_001256327.1 → NP_001243256.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 19

Status: REVIEWED

Description

Transcript Variant: This variant (19) lacks an internal segment and two consecutive exons in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (19) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227749, BC110995, DQ494461, R43876

Consensus CDS

CCDS58565.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R06

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000423045, OTTHUMP00000221565, ENST00000507609, OTTHUMT00000367898

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 396

Ion_trans; Ion transport protein

pfam08016
Location:1648 – 1844
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_001256328.1 → NP_001243257.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 20

Status: REVIEWED

Description

Transcript Variant: This variant (20) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (20) lacks three internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227751, BC110995, DQ494457, R43876

Consensus CDS

CCDS58567.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R10

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000425698, OTTHUMP00000221570, ENST00000514181, OTTHUMT00000367903

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1630 – 1826
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_001256329.1 → NP_001243258.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 21

Status: REVIEWED

Description

Transcript Variant: This variant (21) lacks an internal segment and two consecutive exons in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (21) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494474, R43876

Consensus CDS

CCDS58572.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ3

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000427238, OTTHUMP00000221513, ENST00000503485, OTTHUMT00000367766

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 402

Ion_trans; Ion transport protein

pfam08016
Location:1614 – 1817
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256330.1 → NP_001243259.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 22

Status: REVIEWED

Description

Transcript Variant: This variant (22) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (22) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494476, R43876

Consensus CDS

CCDS58575.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ1

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000425451, OTTHUMP00000221510, ENST00000513964, OTTHUMT00000367763

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 403

Ion_trans; Ion transport protein

pfam08016
Location:1603 – 1806
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256331.1 → NP_001243260.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 23

Status: REVIEWED

Description

Transcript Variant: This variant (23) lacks a segment and three exons in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (23) lacks three internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494473, R43876

Consensus CDS

CCDS58573.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ4

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000426814, OTTHUMP00000221512, ENST00000510366, OTTHUMT00000367765

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 402

Ion_trans; Ion transport protein

pfam08016
Location:1596 – 1799
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256332.1 → NP_001243261.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 24

Status: REVIEWED

Description

Transcript Variant: This variant (24) lacks a segment and three exons in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (24) lacks three internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF126965, BC110995, DQ494472, R43876

Consensus CDS

CCDS58576.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ5

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000422407, OTTHUMP00000221511, ENST00000514717, OTTHUMT00000367764

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 400

Ion_trans; Ion transport protein

pfam08016
Location:1591 – 1794
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256333.1 → NP_001243262.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 25

Status: REVIEWED

Description

Transcript Variant: This variant (25) lacks two consecutive exons and a segment in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (25) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227749, BC110995, DQ494463, R43876

Consensus CDS

CCDS58566.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R04

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000422268, OTTHUMP00000221592, ENST00000505165, OTTHUMT00000367936

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 391

Ion_trans; Ion transport protein

pfam08016
Location:1648 – 1851
Blast Score: 125

PKD_channel; Polycystin cation channel
NM_001256334.1 → NP_001243263.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 26

Status: REVIEWED

Description

Transcript Variant: This variant (26) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (26) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494467, R43876

Consensus CDS

CCDS58571.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R00

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000421518, OTTHUMP00000221575, ENST00000507896, OTTHUMT00000367909

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 392

Ion_trans; Ion transport protein

pfam08016
Location:1637 – 1840
Blast Score: 125

PKD_channel; Polycystin cation channel
NM_001256359.1 → NP_001243288.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 27

Status: REVIEWED

Description

Transcript Variant: This variant (27) lacks an internal segment and two consecutive exons in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (27) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494475, R43876

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ2

UniProtKB/TrEMBL

Q2TAC4

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 401

Ion_trans; Ion transport protein

pfam08016
Location:1621 – 1824
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256360.1 → NP_001243289.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 28

Status: REVIEWED

Description

Transcript Variant: This variant (28) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (28) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494477, R43876

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ0

UniProtKB/TrEMBL

Q2TAC4

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 402

Ion_trans; Ion transport protein

pfam08016
Location:1612 – 1815
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_001256361.1 → NP_001243290.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 29

Status: REVIEWED

Description

Transcript Variant: This variant (29) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (29) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494478, R43876

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QY9

UniProtKB/TrEMBL

Q2TAC4

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 402

Ion_trans; Ion transport protein

pfam08016
Location:1610 – 1813
Blast Score: 127

PKD_channel; Polycystin cation channel
NM_018896.4 → NP_061496.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC004590, AF134986, AF227750, BC110995, R43876

Consensus CDS

CCDS45730.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000352011, OTTHUMP00000221562, ENST00000359106, OTTHUMT00000367895

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1648 – 1851
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198376.2 → NP_938190.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 14

Status: REVIEWED

Description

Transcript Variant: This variant (14) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (14) is shorter than isoform 1.

Source sequence(s)

AC004590, AF124351, AF134985, BC110995, R43876

Consensus CDS

CCDS45736.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R13

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000350979, OTTHUMP00000221574, ENST00000358244, OTTHUMT00000367908

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 391

Ion_trans; Ion transport protein

pfam08016
Location:1614 – 1817
Blast Score: 124

PKD_channel; Polycystin cation channel
NM_198377.2 → NP_938191.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon but has an alternate segment in the coding region and maintains the reading frame, compared to variant 1. The resulting isoform (2) is shorter and has a distinct internal segment, compared to isoform 1.

Source sequence(s)

AC004590, AF227745, BC110995, DQ494470, R43876

Consensus CDS

CCDS58570.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ7

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000420918, OTTHUMP00000221518, ENST00000507336, OTTHUMT00000367772

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 398

Ion_trans; Ion transport protein

pfam08016
Location:1637 – 1840
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198378.2 → NP_938192.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (9) has a distinct and smaller segment and lacks an internal segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AC004590, AF227744, BC110995, R43876

Consensus CDS

CCDS54143.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ9

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000426261, OTTHUMP00000221509, ENST00000512389, OTTHUMT00000367762

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1637 – 1840
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198379.2 → NP_938193.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (7) lacks two internal segments and has a distinct and smaller segment, compared to isoform 1.

Source sequence(s)

AC004590, AF227746, BC110995, R43876

Consensus CDS

CCDS54146.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R11

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000427173, OTTHUMP00000221567, ENST00000510115, OTTHUMT00000367900

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1614 – 1817
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198380.2 → NP_938194.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (5) has a distinct and smaller segment and also lacks an internal segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AC004590, AF227745, BC110995, R43876

Consensus CDS

CCDS54142.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19QZ8

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000426232, OTTHUMP00000221572, ENST00000515765, OTTHUMT00000367906

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 398

Ion_trans; Ion transport protein

pfam08016
Location:1637 – 1840
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198382.2 → NP_938196.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 11

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks three exons in the coding region, compared to variant 1. The resulting isoform (11) lacks a segment in the central region and a segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AC004590, AF227747, BC110995, R43876

Consensus CDS

CCDS54144.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000353990, OTTHUMP00000221515, ENST00000360761, OTTHUMT00000367769

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 395

Ion_trans; Ion transport protein

pfam08016
Location:1625 – 1828
Blast Score: 125

PKD_channel; Polycystin cation channel
NM_198383.2 → NP_938197.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (6) lacks a segment in the central region and a segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AC004590, AF227748, BC110995, R43876

Consensus CDS

CCDS45737.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000425522, OTTHUMP00000221591, ENST00000502264, OTTHUMT00000367935

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 395

Ion_trans; Ion transport protein

pfam08016
Location:1625 – 1828
Blast Score: 125

PKD_channel; Polycystin cation channel
NM_198384.2 → NP_938198.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks two consecutive exons in the 3' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (8) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC004590, AF227749, BC110995, R43876

Consensus CDS

CCDS45732.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R03

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000426098, OTTHUMP00000221569, ENST00000515165, OTTHUMT00000367902

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 396

Ion_trans; Ion transport protein

pfam08016
Location:1648 – 1851
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198385.2 → NP_938199.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.

Source sequence(s)

AC004590, AF227750, BC110995, R43876

Consensus CDS

CCDS45731.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R02

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000423112, OTTHUMP00000221516, ENST00000507510, OTTHUMT00000367770

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1648 – 1851
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198386.2 → NP_938200.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks three exons in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (10) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF227751, BC110995, R43876

Consensus CDS

CCDS45733.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R08

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000414388, OTTHUMP00000221514, ENST00000429973, OTTHUMT00000367768

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1630 – 1833
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198387.2 → NP_938201.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (12) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (12) is shorter than isoform 1.

Source sequence(s)

AC004590, AF126966, BC110995, R43876

Consensus CDS

CCDS45735.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R12

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000339302, OTTHUMP00000221560, ENST00000352832, OTTHUMT00000367893

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 396

Ion_trans; Ion transport protein

pfam08016
Location:1614 – 1817
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198388.2 → NP_938202.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (13) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (13) lacks three internal segments, compared to isoform 1.

Source sequence(s)

AC004590, AF126965, BC110995, R43876

Consensus CDS

CCDS54145.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q19R17

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000409759, OTTHUMP00000221568, ENST00000442258, OTTHUMT00000367901

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 396

Ion_trans; Ion transport protein

pfam08016
Location:1607 – 1810
Blast Score: 126

PKD_channel; Polycystin cation channel
NM_198396.2 → NP_938406.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment and has a distinct and smaller segment, compared to isoform 1.

Source sequence(s)

AC004590, AF134986, AF227746, BC110995, R43876

Consensus CDS

CCDS45734.1

UniProtKB/Swiss-Prot

O43497

UniProtKB/TrEMBL

Q2TAC4

Related

ENSP00000347078, ENST00000354983

Conserved Domains (2) summary

pfam00520
Location:777 – 963
Blast Score: 397

Ion_trans; Ion transport protein

pfam08016
Location:1614 – 1817
Blast Score: 126

PKD_channel; Polycystin cation channel

RNA

NR_046054.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (30) lacks an internal segment, which results in a frameshift and early translation termination, and two consecutive exons, compared to variant 1. This variant is a nonsense-mediated mRNA decay candidate and represents a non-coding transcript.

Source sequence(s)

AC004590, AF227749, BC110995, DQ494462, R43876
NR_046055.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (31) has multiple differences, one of which results in a frameshift and early translation termination, compared to variant 1. This variant is a nonsense-mediated mRNA decay candidate and represents a non-coding transcript.

Source sequence(s)

AC004590, AF227744, BC110995, DQ494466, R43876
NR_046056.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (32) lacks three exons and an internal segment which results in a frameshift and early translation termination, compared to variant 1. This variant is a nonsense-mediated mRNA decay candidate and represents a non-coding transcript.

Source sequence(s)

AC004590, AF227751, BC110995, DQ494458, R43876
NR_046057.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (33) lacks three exons and an internal segment which results in a frameshift and early translation termination, compared to variant 1. This variant is a nonsense-mediated mRNA decay candidate and represents a non-coding transcript.

Source sequence(s)

AC004590, AF227747, BC110995, DQ494452, R43876
NR_046058.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (34) lacks four exons and an internal segment which results in a frameshift and early translation termination, compared to variant 1. This variant is a nonsense-mediated mRNA decay candidate and represents a non-coding transcript.

Source sequence(s)

AC004590, AF126965, BC110995, DQ494449, R43876

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

48638429..48704835

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

44006381..44072836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

49652262..49718773

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198397.1: Suppressed sequence

Description

NM_198397.1: This RefSeq was permanently suppressed because it is based on an incompletely processed and 3' partial transcript.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01041240.1 (177180..181672)	None
genomic	ABBA01041241.1	None
genomic	ABBA01041242.1	None
genomic	ABBA01041243.1	None
genomic	AC004590.1 (76190..94114)	None
genomic	AC021491.16	None
genomic	AMYH01008473.1 (96284..100523)	None
genomic	AMYH01008474.1	None
genomic	AMYH01008475.1	None
genomic	CH471109.2	EAW94596.1
		EAW94597.1
		EAW94598.1
		EAW94599.1
		EAW94600.1
		EAW94601.1
genomic	FB571393.1	CAR95114.1
genomic	FB571395.1	CAR95115.1
genomic	FB571397.1	CAR95116.1
genomic	FB571399.1	CAR95117.1
genomic	FB571401.1	CAR95118.1
genomic	FB571403.1	CAR95119.1
genomic	FB571405.1	CAR95120.1
genomic	FB571407.1	CAR95121.1
genomic	FB571409.1	CAR95122.1
genomic	FB571411.1	CAR95123.1
genomic	FB571413.1	CAR95124.1
genomic	FB571415.1	CAR95125.1
genomic	FB571417.1	CAR95126.1
genomic	FB571419.1	CAR95127.1
genomic	FB571421.1	CAR95128.1
mRNA	AB012043.1	BAA36409.1
mRNA	AB032949.2	BAA86437.2
mRNA	AF029228.1	AAD12731.1
mRNA	AF029229.1	AAD12732.1
mRNA	AF124351.1	AAD34352.1
mRNA	AF126965.1	AAD29400.1
mRNA	AF126966.1	AAD29401.1
mRNA	AF134985.1	AAF19346.1
mRNA	AF134986.1	AAF19347.1
mRNA	AF190860.1	AAF35287.1
mRNA	AF227744.1	AAF37689.1
mRNA	AF227745.1	AAF37690.1
mRNA	AF227746.1	AAF37691.1
mRNA	AF227747.1	AAF37692.1
mRNA	AF227748.1	AAF37693.1
mRNA	AF227749.1	AAF37694.1
mRNA	AF227750.1	AAF37695.1
mRNA	AF227751.1	AAF37696.1
mRNA	AK296513.1	BAG59145.1
mRNA	BC110995.1	AAI10996.1
mRNA	DQ494449.1	ABF69900.1
mRNA	DQ494450.1	ABF69901.1
mRNA	DQ494451.1	ABF69902.1
mRNA	DQ494452.1	ABF69903.1
mRNA	DQ494453.1	ABF69904.1
mRNA	DQ494454.1	ABF69905.1
mRNA	DQ494455.1	ABF69906.1
mRNA	DQ494456.1	ABF69907.1
mRNA	DQ494457.1	ABF69908.1
mRNA	DQ494458.1	ABF69909.1
mRNA	DQ494459.1	ABF69910.1
mRNA	DQ494460.1	ABF69911.1
mRNA	DQ494461.1	ABF69912.1
mRNA	DQ494462.1	ABF69913.1
mRNA	DQ494463.1	ABF69914.1
mRNA	DQ494464.1	ABF69915.1
mRNA	DQ494465.1	ABF69916.1
mRNA	DQ494466.1	ABF69917.1
mRNA	DQ494467.1	ABF69918.1
mRNA	DQ494468.1	ABF69919.1
mRNA	DQ494469.1	ABF69920.1
mRNA	DQ494470.1	ABF69921.1
mRNA	DQ494471.1	ABF69922.1
mRNA	DQ494472.1	ABF69923.1
mRNA	DQ494473.1	ABF69924.1
mRNA	DQ494474.1	ABF69925.1
mRNA	DQ494475.1	ABF69926.1
mRNA	DQ494476.1	ABF69927.1
mRNA	DQ494477.1	ABF69928.1
mRNA	DQ494478.1	ABF69929.1
mRNA	DQ494479.1	ABF69930.1
mRNA	R43876.1	None