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

    Gene ID: 8913, updated on 18-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CACNA1G in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48620417-48620917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8704 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48626222-48626443 Neighboring gene epsin 3 Neighboring gene CACNA1G antisense RNA 1 Neighboring gene spermatogenesis associated 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48639035-48639624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48646614-48647600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48670255-48671063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48673674-48674174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48686338-48686945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48702910-48703682 Neighboring gene uncharacterized LOC101927253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411 Neighboring gene ATP binding cassette subfamily C member 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 Neighboring gene Sharpr-MPRA regulatory region 5804 Neighboring gene ABCC3 (B) eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 2031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ankyrin repeat domain 40

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117234

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_032024.1 RefSeqGene

      Range
      4648..71407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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)
    11. 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)
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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)
    17. 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
    18. 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
    19. 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
    20. 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
    21. 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
    22. 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
    23. 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
    24. 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
    25. 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
    26. 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
    27. 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
    28. 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

    1. 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
    2. 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
    3. 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
    4. 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
    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50560715..50627474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
    2. 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

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51427851..51494639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. 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

    1. 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.