CACNA1G calcium voltage-gated channel subunit alpha1 G [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNA1Gprovided by HGNC
Official Full Name: calcium voltage-gated channel subunit alpha1 Gprovided by HGNC
Primary source: HGNC:HGNC:1394
See related: Ensembl:ENSG00000006283 MIM:604065; AllianceGenome:HGNC:1394
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; SCA42; Cav3.1; SCA42ND; 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]
Expression: Biased expression in brain (RPKM 2.7), endometrium (RPKM 1.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50560715..50627474)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51427851..51494639)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48638076..48704835)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
Title: Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
CaV3.2 (CACNA1H) in Primary Aldosteronism.
Title: Ca(V)3.2 (CACNA1H) in Primary Aldosteronism.
The relationship of promoter methylation of calcium voltage-gated channel alpha 1 and interleukin-16 to primary osteoarthritis.
Title: The relationship of promoter methylation of calcium voltage-gated channel alpha 1 and interleukin-16 to primary osteoarthritis.
The T-type Calcium Channel Cav3.1 in Y79 Retinoblastoma Cells is Regulated by the Epidermal Growth Factor Receptor via the MAPK Signaling Pathway.
Title: The T-type Calcium Channel Cav3.1 in Y79 Retinoblastoma Cells is Regulated by the Epidermal Growth Factor Receptor via the MAPK Signaling Pathway.
Downregulation of Cav3.1 T-type Calcium Channel Expression in Age-related Hearing Loss Model.
Title: Downregulation of Cav3.1 T-type Calcium Channel Expression in Age-related Hearing Loss Model.
Overexpression of T-type calcium channel Cav3.1 in oral squamous cell carcinoma: association with proliferation and anti-apoptotic activity.
Title: Overexpression of T-type calcium channel Cav3.1 in oral squamous cell carcinoma: association with proliferation and anti-apoptotic activity.
CaV3.1 channel pore pseudo-symmetry revealed by selectivity filter mutations in its domains I/II.
Title: Ca(V)3.1 channel pore pseudo-symmetry revealed by selectivity filter mutations in its domains I/II.
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Title: De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Title: Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Deterministic model of Cav3.1 Ca(2+) channel and a proposed sequence of its conformations.
Title: Deterministic model of Ca(v)3.1 Ca(2+) channel and a proposed sequence of its conformations.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MedGen: C4748120 OMIM: 618087 GeneReviews: Not available	Compare labs
Spinocerebellar ataxia type 42 MedGen: C4225205 OMIM: 616795 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables high voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables low voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated calcium channel activity involved SA node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
enables voltage-gated calcium channel activity involved in AV node cell action potential	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in AV node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in AV node cell to bundle of His cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in SA node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in SA node cell to atrial cardiac muscle cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell action potential involved in contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization during AV node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane depolarization during SA node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of atrial cardiac muscle cell membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate by cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nickel cation	IEA Inferred from Electronic Annotation more info
involved_in sinoatrial node development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

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

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

4648..71407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256324.2 → NP_001243253.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 16

See identical proteins and their annotated locations for NP_001243253.1

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, AC021491, AF227751, BC110995, DQ494460, R43876

Consensus CDS

CCDS58568.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000423155.1, ENST00000515411.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256325.2 → NP_001243254.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 17

See identical proteins and their annotated locations for NP_001243254.1

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, AC021491, AF227744, BC110995, DQ494471, R43876

Consensus CDS

CCDS58569.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000423317.1, ENST00000514079.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256326.2 → NP_001243255.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 18

See identical proteins and their annotated locations for NP_001243255.1

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, AC021491, AF227744, BC110995, DQ494479, R43876

Consensus CDS

CCDS58574.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000426172.2, ENST00000513689.6

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256327.2 → NP_001243256.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 19

See identical proteins and their annotated locations for NP_001243256.1

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, AC021491, AF227749, BC110995, DQ494461, R43876

Consensus CDS

CCDS58565.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000423045.1, ENST00000507609.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256328.2 → NP_001243257.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 20

See identical proteins and their annotated locations for NP_001243257.1

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, AC021491, AF227751, BC110995, DQ494457, R43876

Consensus CDS

CCDS58567.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000425698.1, ENST00000514181.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256329.2 → NP_001243258.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 21

See identical proteins and their annotated locations for NP_001243258.1

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, AC021491, AF227744, BC110995, DQ494474, R43876

Consensus CDS

CCDS58572.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000427238.1, ENST00000503485.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256330.2 → NP_001243259.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 22

See identical proteins and their annotated locations for NP_001243259.1

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, AC021491, AF227744, BC110995, DQ494476, R43876

Consensus CDS

CCDS58575.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000425451.1, ENST00000513964.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256331.2 → NP_001243260.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 23

See identical proteins and their annotated locations for NP_001243260.1

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, AC021491, AF227744, BC110995, DQ494473, R43876

Consensus CDS

CCDS58573.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000426814.1, ENST00000510366.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256332.2 → NP_001243261.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 24

See identical proteins and their annotated locations for NP_001243261.1

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, AC021491, AF126965, BC110995, DQ494472, R43876

Consensus CDS

CCDS58576.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000422407.1, ENST00000514717.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256333.2 → NP_001243262.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 25

See identical proteins and their annotated locations for NP_001243262.1

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, AC021491, AF227749, BC110995, DQ494463, R43876

Consensus CDS

CCDS58566.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000422268.1, ENST00000505165.5

Conserved Domains (2) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein

pfam15552
Location:2028 → 2113

DUF4657; Domain of unknown function (DUF4657)
NM_001256334.2 → NP_001243263.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 26

See identical proteins and their annotated locations for NP_001243263.1

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, AC021491, AF227744, BC110995, DQ494467, R43876

Consensus CDS

CCDS58571.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000421518.1, ENST00000507896.5

Conserved Domains (2) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein

pfam15552
Location:2017 → 2102

DUF4657; Domain of unknown function (DUF4657)
NM_001256359.2 → NP_001243288.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 27

See identical proteins and their annotated locations for NP_001243288.1

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, AC021491, AF227744, BC110995, DQ494475, R43876

UniProtKB/Swiss-Prot

O43497

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256360.2 → NP_001243289.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 28

See identical proteins and their annotated locations for NP_001243289.1

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, AC021491, AF227744, BC110995, DQ494477, R43876

UniProtKB/Swiss-Prot

O43497

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_001256361.2 → NP_001243290.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 29

See identical proteins and their annotated locations for NP_001243290.1

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, AC021491, AF227744, BC110995, DQ494478, R43876

UniProtKB/Swiss-Prot

O43497

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_018896.5 → NP_061496.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 1

See identical proteins and their annotated locations for NP_061496.2

Status: REVIEWED

Description

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

Source sequence(s)

AC004590, AC021491, AF134986, AF227750, BC110995, R43876

Consensus CDS

CCDS45730.1

UniProtKB/Swiss-Prot

D6RA64, E7EPR0, O43497, O43498, O94770, Q19QY8, Q19QY9, Q19QZ0, Q19QZ1, Q19QZ2, Q19QZ3, Q19QZ4, Q19QZ5, Q19QZ6, Q19QZ7, Q19QZ8, Q19QZ9, Q19R00, Q19R01, Q19R02, Q19R03, Q19R04, Q19R05, Q19R06, Q19R07, Q19R08, Q19R09, Q19R10, Q19R11, Q19R12, Q19R13, Q19R15, Q19R16, Q19R17, Q19R18, Q2TAC4, Q9NYU4, Q9NYU5, Q9NYU6, Q9NYU7, Q9NYU8, Q9NYU9, Q9NYV0, Q9NYV1, Q9UHN9, Q9UHP0, Q9ULU6, Q9UNG7, Q9Y5T2, Q9Y5T3

Related

ENSP00000352011.5, ENST00000359106.10

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198376.3 → NP_938190.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 14

See identical proteins and their annotated locations for NP_938190.1

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, AC021491, AF124351, AF134985, BC110995, R43876

Consensus CDS

CCDS45736.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000350979.5, ENST00000358244.9

Conserved Domains (2) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein

pfam15552
Location:1994 → 2079

DUF4657; Domain of unknown function (DUF4657)
NM_198377.3 → NP_938191.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 2

See identical proteins and their annotated locations for NP_938191.2

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, AC021491, AF227745, BC110995, DQ494470, R43876

Consensus CDS

CCDS58570.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000420918.1, ENST00000507336.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198378.3 → NP_938192.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 9

See identical proteins and their annotated locations for NP_938192.1

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, AC021491, AF227744, BC110995, R43876

Consensus CDS

CCDS54143.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000426261.1, ENST00000512389.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198379.3 → NP_938193.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 7

See identical proteins and their annotated locations for NP_938193.1

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, AC021491, AF227746, BC110995, R43876

Consensus CDS

CCDS54146.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000427173.1, ENST00000510115.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198380.3 → NP_938194.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 5

See identical proteins and their annotated locations for NP_938194.1

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, AC021491, AF227745, BC110995, R43876

Consensus CDS

CCDS54142.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000426232.1, ENST00000515765.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198382.3 → NP_938196.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 11

See identical proteins and their annotated locations for NP_938196.1

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, AC021491, AF227747, BC110995, R43876

Consensus CDS

CCDS54144.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000353990.4, ENST00000360761.8

Conserved Domains (2) summary

PHA03247
Location:1857 → 2240

PHA03247; large tegument protein UL36; Provisional

pfam00520
Location:742 → 968

Ion_trans; Ion transport protein
NM_198383.3 → NP_938197.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 6

See identical proteins and their annotated locations for NP_938197.1

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, AC021491, AF227748, BC110995, R43876

Consensus CDS

CCDS45737.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000425522.1, ENST00000502264.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198384.3 → NP_938198.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 8

See identical proteins and their annotated locations for NP_938198.1

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, AC021491, AF227749, BC110995, R43876

Consensus CDS

CCDS45732.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000426098.1, ENST00000515165.5

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198385.3 → NP_938199.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 4

See identical proteins and their annotated locations for NP_938199.1

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, AC021491, AF227750, BC110995, R43876

Consensus CDS

CCDS45731.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000423112.2, ENST00000507510.6

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198386.3 → NP_938200.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 10

See identical proteins and their annotated locations for NP_938200.1

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, AC021491, AF227751, BC110995, R43876

Consensus CDS

CCDS45733.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000414388.2, ENST00000429973.6

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198387.3 → NP_938201.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 12

See identical proteins and their annotated locations for NP_938201.1

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, AC021491, AF126966, BC110995, R43876

Consensus CDS

CCDS45735.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000339302.5, ENST00000352832.9

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198388.3 → NP_938202.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 13

See identical proteins and their annotated locations for NP_938202.1

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, AC021491, AF126965, BC110995, R43876

Consensus CDS

CCDS54145.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000409759.2, ENST00000442258.6

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
NM_198396.3 → NP_938406.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 3

See identical proteins and their annotated locations for NP_938406.1

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, AC021491, AF134986, AF227746, BC110995, R43876

Consensus CDS

CCDS45734.1

UniProtKB/Swiss-Prot

O43497

Related

ENSP00000347078.4, ENST00000354983.8

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein

RNA

NR_046054.2 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, AC021491, AF227749, BC110995, DQ494462, R43876

Related

ENST00000506406.5
NR_046055.2 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, AC021491, AF227744, BC110995, DQ494466, R43876

Related

ENST00000504076.5
NR_046056.2 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, AC021491, AF227751, BC110995, DQ494458, R43876

Related

ENST00000511765.5
NR_046057.2 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, AC021491, AF227747, BC110995, DQ494452, R43876

Related

ENST00000503436.5
NR_046058.2 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, AC021491, AF126965, BC110995, DQ494449, R43876

Related

ENST00000503607.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

50560715..50627474

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722160.5 → XP_006722223.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform X1

Conserved Domains (1) summary

pfam00520
Location:760 → 968

Ion_trans; Ion transport protein
XM_006722161.5 → XP_006722224.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform X2

Conserved Domains (1) summary

pfam00520
Location:743 → 951

Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

51427851..51494639

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317681.1 → XP_054173656.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform X1
XM_054317682.1 → XP_054173657.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform X2

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.