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2025-05-12 01:27:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000727 1327 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens calcium channel, voltage-dependent, gamma subunit 1
(CACNG1), mRNA.
ACCESSION NM_000727
VERSION NM_000727.3 GI:313482780
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1327)
AUTHORS Chen,R.S., Deng,T.C., Garcia,T., Sellers,Z.M. and Best,P.M.
TITLE Calcium channel gamma subunits: a functionally diverse protein
family
JOURNAL Cell Biochem. Biophys. 47 (2), 178-186 (2007)
PUBMED 17652770
REMARK Review article
REFERENCE 2 (bases 1 to 1327)
AUTHORS Chu,P.J., Robertson,H.M. and Best,P.M.
TITLE Calcium channel gamma subunits provide insights into the evolution
of this gene family
JOURNAL Gene 280 (1-2), 37-48 (2001)
PUBMED 11738816
REFERENCE 3 (bases 1 to 1327)
AUTHORS Burgess,D.L., Gefrides,L.A., Foreman,P.J. and Noebels,J.L.
TITLE A cluster of three novel Ca2+ channel gamma subunit genes on
chromosome 19q13.4: evolution and expression profile of the gamma
subunit gene family
JOURNAL Genomics 71 (3), 339-350 (2001)
PUBMED 11170751
REFERENCE 4 (bases 1 to 1327)
AUTHORS Burgess,D.L., Davis,C.F., Gefrides,L.A. and Noebels,J.L.
TITLE Identification of three novel Ca(2+) channel gamma subunit genes
reveals molecular diversification by tandem and chromosome
duplication
JOURNAL Genome Res. 9 (12), 1204-1213 (1999)
PUBMED 10613843
REFERENCE 5 (bases 1 to 1327)
AUTHORS Wagner,T., Tommerup,N., Wirth,J., Leffers,H., Zimmer,J., Back,E.,
Weissenbach,J. and Scherer,G.
TITLE A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3
JOURNAL Cytogenet. Cell Genet. 76 (3-4), 172-175 (1997)
PUBMED 9186513
REFERENCE 6 (bases 1 to 1327)
AUTHORS Olckers,A., Jedlicka,A.E., Powers,P.A., Hogan,K., Gregg,R.G. and
Levitt,R.C.
TITLE G to A polymorphism in the CACNLG gene
JOURNAL Hum. Mol. Genet. 2 (12), 2198 (1993)
PUBMED 8111396
REFERENCE 7 (bases 1 to 1327)
AUTHORS Powers,P.A., Liu,S., Hogan,K. and Gregg,R.G.
TITLE Molecular characterization of the gene encoding the gamma subunit
of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+
channel (CACNLG), cDNA sequence, gene structure, and chromosomal
location
JOURNAL J. Biol. Chem. 268 (13), 9275-9279 (1993)
PUBMED 8387489
REFERENCE 8 (bases 1 to 1327)
AUTHORS Iles,D.E., Segers,B., Weghuis,D.O., Suikerbuijk,R. and Wieringa,B.
TITLE Localization of the gamma-subunit of the skeletal muscle L-type
voltage-dependent calcium channel gene (CACNLG) to human chromosome
band 17q24 by in situ hybridization and identification of a
polymorphic repetitive DNA sequence at the gene locus
JOURNAL Cytogenet. Cell Genet. 64 (3-4), 227-230 (1993)
PUBMED 8404045
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA898357.1, BC113486.1,
AF086300.1 and AC005544.1.
On Dec 3, 2010 this sequence version replaced gi:22027542.
Summary: Voltage-dependent calcium channels are composed of five
subunits. The protein encoded by this gene represents one of these
subunits, gamma, and is one of two known gamma subunit proteins.
This particular gamma subunit is part of skeletal muscle
1,4-dihydropyridine-sensitive calcium channels and is an integral
membrane protein that plays a role in excitation-contraction
coupling. This gene is part of a functionally diverse eight-member
protein subfamily of the PMP-22/EMP/MP20 family and is located in a
cluster with two family members that function as transmembrane AMPA
receptor regulatory proteins (TARPs). [provided by RefSeq, Dec
2010].
##Evidence-Data-START##
Transcript exon combination :: L07738.1, BC113486.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025087 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-65 DA898357.1 1-65
66-852 BC113486.1 1-787
853-1011 AF086300.1 257-415
1012-1012 AC005544.1 85160-85160 c
1013-1327 AF086300.1 417-731
FEATURES Location/Qualifiers
source 1..1327
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q24"
gene 1..1327
/gene="CACNG1"
/gene_synonym="CACNLG"
/note="calcium channel, voltage-dependent, gamma subunit
1"
/db_xref="GeneID:786"
/db_xref="HGNC:1405"
/db_xref="HPRD:00249"
/db_xref="MIM:114209"
exon 1..354
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="alignment:Splign:1.39.8"
STS 66..852
/gene="CACNG1"
/gene_synonym="CACNLG"
/db_xref="UniSTS:484296"
variation 69
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace=""
/replace="c"
/db_xref="dbSNP:35542901"
misc_feature 72..74
/gene="CACNG1"
/gene_synonym="CACNLG"
/note="upstream in-frame stop codon"
STS 76..844
/gene="CACNG1"
/gene_synonym="CACNLG"
/db_xref="UniSTS:481708"
variation 79
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:368365252"
variation 85
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:375981836"
variation 89
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:139967780"
variation 93
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:374628258"
variation 110
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:377715475"
variation 111
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:371173127"
variation 118
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:202072611"
variation 122
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:369850574"
CDS 126..794
/gene="CACNG1"
/gene_synonym="CACNLG"
/note="neuronal dihydropyridine-sensitive calcium channel
gamma subunit; L-type calcium channel gamma polypeptide;
dihydropyridine-sensitive L-type, skeletal muscle calcium
channel subunit gamma"
/codon_start=1
/product="voltage-dependent calcium channel gamma-1
subunit"
/protein_id="NP_000718.1"
/db_xref="GI:4502539"
/db_xref="CCDS:CCDS11668.1"
/db_xref="GeneID:786"
/db_xref="HGNC:1405"
/db_xref="HPRD:00249"
/db_xref="MIM:114209"
/translation="
MSQTKMLKVRVTLFCILAGIVLAMTAVVTDHWAVLSPHMEHHNTTCEAAHFGLWRICTKRIPMDDSKTCGPITLPGEKNCSYFRHFNPGESSEIFEFTTQKEYSISAAAIAIFSLGFIILGSLCVLLSLGKKRDYLLRPASMFYAFAGLCILVSVEVMRQSVKRMIDSEDTVWIEYYYSWSFACACAAFILLFLGGLALLLFSLPRMPRNPWESCMDAEPEH
"
misc_feature 156..212
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
transmembrane region"
misc_feature 174..665
/gene="CACNG1"
/gene_synonym="CACNLG"
/note="PMP-22/EMP/MP20/Claudin tight junction; Region:
Claudin_2; pfam13903"
/db_xref="CDD:206074"
misc_feature 438..512
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
transmembrane region"
misc_feature 543..590
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
transmembrane region"
misc_feature 663..737
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
transmembrane region"
variation 153
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:144718253"
variation 154
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:200166315"
variation 170
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:138597553"
variation 185
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:200565506"
variation 192
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:370512622"
variation 196
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:374725823"
variation 212
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:141232994"
variation 224
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:150777707"
variation 233
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:138069395"
variation 250
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:200630535"
variation 257
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:367858834"
variation 263
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:140686694"
variation 264..265
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace=""
/replace="c"
/db_xref="dbSNP:34848220"
variation 269
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:144676810"
variation 280
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="g"
/db_xref="dbSNP:199612249"
variation 286
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:202046182"
variation 289
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:200686073"
variation 315..316
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace=""
/replace="g"
/db_xref="dbSNP:35983508"
variation 317
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:200115411"
variation 339
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:139913144"
exon 355..429
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="alignment:Splign:1.39.8"
variation 379
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:202020889"
variation 390
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:371843031"
variation 401
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:376099391"
exon 430..567
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="alignment:Splign:1.39.8"
variation 431
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:374291670"
variation 449
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:200335785"
variation 456
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:376840748"
variation 488
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:143842742"
variation 498
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:147258815"
variation 506
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:140836897"
variation 513
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:142384274"
variation 545
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:151308706"
variation 563
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:112631391"
variation 564
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:139399934"
exon 568..1320
/gene="CACNG1"
/gene_synonym="CACNLG"
/inference="alignment:Splign:1.39.8"
variation 587
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:114830174"
variation 608
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:201378629"
variation 615
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:143055819"
variation 616
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:140761602"
variation 639
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:368486677"
variation 640
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:112255499"
variation 652
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:144606776"
variation 678
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:146687061"
variation 686
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:148854871"
variation 687
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:372713806"
variation 702
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:372395180"
variation 709
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:377293425"
variation 711
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:1799938"
variation 726
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:148046092"
variation 741
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:374071089"
variation 742
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="g"
/db_xref="dbSNP:148226819"
variation 750
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:371885900"
variation 763
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:146071095"
variation 786
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:138929263"
variation 803
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:9912133"
variation 812
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:115573053"
variation 813
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:201720862"
STS 822..1148
/gene="CACNG1"
/gene_synonym="CACNLG"
/standard_name="SHGC-12505"
/db_xref="UniSTS:50748"
variation 827
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="t"
/db_xref="dbSNP:141132419"
variation 839
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:202044777"
variation 840
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:375091485"
variation 990
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:111645684"
variation 999
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="g"
/db_xref="dbSNP:76510674"
variation 1011
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:833"
variation 1012
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:2684"
variation 1078..1079
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace=""
/replace="a"
/db_xref="dbSNP:374936894"
variation 1080..1085
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace=""
/replace="tgtccc"
/db_xref="dbSNP:368003478"
variation 1087
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="t"
/db_xref="dbSNP:374852027"
STS 1163..1296
/gene="CACNG1"
/gene_synonym="CACNLG"
/standard_name="RH17604"
/db_xref="UniSTS:55591"
variation 1170
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:375880771"
variation 1256
/gene="CACNG1"
/gene_synonym="CACNLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:369152142"
polyA_signal 1301..1306
/gene="CACNG1"
/gene_synonym="CACNLG"
polyA_site 1320
/gene="CACNG1"
/gene_synonym="CACNLG"
ORIGIN
acactaaacttagtggccactcccagctcgacaaccactgccaccccccaagctcggcttgtcacctgccctaggagacgcagccgccggaccctgcccagggcacccacgcctcggcgaccaccatgtcccagaccaaaatgctgaaggtccgcgtgaccctcttctgcatcctggcaggcatcgtgctggccatgacagccgtggtaaccgaccactgggctgtgctgagcccccacatggagcaccacaacactacctgcgaggcggcccacttcggcctctggcggatttgtaccaagcgcatccccatggacgacagcaagacctgcgggcccatcaccctgcccggggagaagaactgttcctacttcaggcattttaaccccggcgagagctcggagatcttcgaattcaccactcagaaggagtacagcatctcggcagccgccatcgccatcttcagccttggcttcatcatcctgggcagcctctgtgtcctcctgtccctcgggaagaagagggactatctgctgcgacccgcgtccatgttctatgcctttgcaggtctctgcatcctcgtctcggtggaggtcatgcggcagtcggtgaagcgcatgattgacagtgaggacaccgtctggatcgagtactattactcctggtcctttgcctgcgcctgtgccgccttcatcctcctctttctcggcggtctcgccctcctgctgttctccctgcctcgaatgccccggaacccatgggagtcctgcatggatgctgagcccgagcactaaccctcctgcggccctagcgaccctcaggcttcttccccaggaagcggggtcttggcctggaaccttccagagaggaggcgggagcaattttagccccaccctgctcccatctgcccccctgcaacagtcgcaggctgcttcctctctctgagttcctctgggctgccgcaggctcccctgggaatagagcaagacgtgagtcctaacctggccacagttgggggaggcagagccagcaggtggacaggtgtttgcaggggcccaacttcccctggagctcagaggtgtccccactgtaccagcctctgataagctgcctccagttgtcctttatgaacattgcagggacaacctgtgtttgccagctgggtgttccgtgtaaatagccagcctgtctctttctcggtgataaaacacaccctctctggtgagcccagcgtcccctccttggcttccaggagccctgggaagcatttttaactgggtagaatctgactgtggcttgaaataaaaagctctcagaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:786 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: IEA
GeneID:786 -> Biological process: GO:0006810 [transport] evidence: TAS
GeneID:786 -> Biological process: GO:0006936 [muscle contraction] evidence: TAS
GeneID:786 -> Biological process: GO:0070296 [sarcoplasmic reticulum calcium ion transport] evidence: IEA
GeneID:786 -> Cellular component: GO:0005891 [voltage-gated calcium channel complex] evidence: IEA
by
@meso_cacase at
DBCLS
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