 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
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Analyze GeneStrainQTL List |
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GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway AnnotationsReferences - curated| 1. | Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | González B, etal., Addict Biol. 2016 May;21(3):589-602. doi: 10.1111/adb.12249. Epub 2015 Apr 14. |
| 4. | Pipeline to import KEGG annotations from KEGG into RGD |
| 5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | RGD automated import pipeline for gene-chemical interactions |
| 7. | Wen XJ, etal., Acta Pharmacol Sin. 2006 Dec;27(12):1547-52. doi: 10.1111/j.1745-7254.2006.00461.x. |
References - uncurated| PubMed | 10454147 10574461 10591208 10749850 11927664 12080115 12477932 15174051 15254077 16382099 16740636 16939858 17535809 18591418 21873635 22883433 23382691 23488970 24709693 25454347 26488564 27756899 28165634 28330839 28725167 28846697 28972185 29308060 29474447 |
Genomics
Comparative Map Data| CACNA1I (Homo sapiens - human) |
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| Cacna1i (Mus musculus - house mouse) |
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| Cacna1i (Rattus norvegicus - Norway rat) |
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| Cacna1i (Chinchilla lanigera - long-tailed chinchilla) |
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| CACNA1I (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CACNA1I (Canis lupus familiaris - dog) |
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| Cacna1i (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CACNA1I (Sus scrofa - pig) |
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Position Markers| RH75338 |
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| G49248 |
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| D22S578 |
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| G65376 |
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| G65375 |
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| D22S645 |
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| G10206 |
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| contig_249751 |
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miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_052947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001003406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_021096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB032946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF129133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF142567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF211189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF393329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL008716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL022312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL022319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC042972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF457459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| N52765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001003406 ⟹ NP_001003406 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATGGCTGAGAGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCAhide sequence |
| RefSeq Acc Id: | NM_021096 ⟹ NP_066919 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATGGCTGAGAGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCAhide sequence |
| RefSeq Acc Id: | XM_017029035 ⟹ XP_016884524 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCAAGATCATGTGTCAAAACAAACAAAAAATTCCAAATCAGCCAAACAAACCAATCCTGGTTChide sequence |
| RefSeq Acc Id: | XM_017029036 ⟹ XP_016884525 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCAAGATCATGTGTCAAAACAAACAAAAAATTCCAAATCAGCCAAACAAACCAATCCTGGTTCThide sequence |
| RefSeq Acc Id: | XM_017029037 ⟹ XP_016884526 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCAAGATCATGTGTCAAAACAAACAAAAAATTCCAAATCAGCCAAACAAACCAATCCTGGTTChide sequence |
Protein Sequences| Protein RefSeqs | NP_001003406 | (Get FASTA) | NCBI Sequence Viewer |
| NP_066919 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884524 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884525 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884526 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD45251 | (Get FASTA) | NCBI Sequence Viewer |
| AAF25722 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF44626 | (Get FASTA) | NCBI Sequence Viewer | |
| AAM67414 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA86434 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60345 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60346 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60347 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60348 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60349 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60350 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW60351 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9P0X4 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_066919 ⟸ NM_021096 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9P0X4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFFCLRQhide sequence |
| RefSeq Acc Id: | NP_001003406 ⟸ NM_001003406 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q9P0X4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFFCLRQhide sequence |
| RefSeq Acc Id: | XP_016884526 ⟸ XM_017029037 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MGQWGDGGMVRTPTCQGHTARVGVQRGSTAALWPDRVSIPHPNAPQPEELTNILEICNVVFTSMhide sequence |
| RefSeq Acc Id: | XP_016884524 ⟸ XM_017029035 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MGQWGDGGMVRTPTCQGHTARVGVQRGSTAALWPDRVSIPHPNAPQPEELTNILEICNVVFTSMhide sequence |
| RefSeq Acc Id: | XP_016884525 ⟸ XM_017029036 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MGQWGDGGMVRTPTCQGHTARVGVQRGSTAALWPDRVSIPHPNAPQPEELTNILEICNVVFTSMhide sequence |
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 | copy number gain | Global developmental delay [RCV000051684]|See cases [RCV000051684] | Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
| GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051685]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051685]|See cases [RCV000051685] | Chr22:37721797..40860953 [GRCh38] Chr22:38117804..41256957 [GRCh37] Chr22:36447750..39586903 [NCBI36] Chr22:22q13.1-13.2 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 | copy number gain | Failure to thrive [RCV000051682]|See cases [RCV000051682] | Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
| NM_001003406.1(CACNA1I):c.2372T>C (p.Val791Ala) | single nucleotide variant | Malignant melanoma [RCV000072974] | Chr22:39659725 [GRCh38] Chr22:40055730 [GRCh37] Chr22:38385676 [NCBI36] Chr22:22q13.1 |
not provided |
| NM_001003406.1(CACNA1I):c.236+2480G>A | single nucleotide variant | Lung cancer [RCV000102067] | Chr22:39573468 [GRCh38] Chr22:39969473 [GRCh37] Chr22:22q13.1 |
uncertain significance |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| Single allele | deletion | Normal pregnancy [RCV000161907] | Chr22:39653405..39669317 [GRCh38] Chr22:40049410..40065322 [GRCh37] Chr22:22q13.1 |
not provided |
| NM_021096.4(CACNA1I):c.3917T>C (p.Ile1306Thr) | single nucleotide variant | not specified [RCV000238868] | Chr22:39665563 [GRCh38] Chr22:40061568 [GRCh37] Chr22:22q13.1 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 | copy number gain | See cases [RCV000240469] | Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:1396 | AgrOrtholog |
| COSMIC | CACNA1I | COSMIC |
| Ensembl Genes | ENSG00000100346 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000383887 | UniProtKB/Swiss-Prot |
| ENSP00000384093 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000385019 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000385680 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000401624 | UniProtKB/Swiss-Prot |
| ENST00000402142 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000404898 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000407673 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.20.120.350 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000100346 | GTEx |
| HGNC ID | HGNC:1396 | ENTREZGENE |
| Human Proteome Map | CACNA1I | Human Proteome Map |
| InterPro | CACNA1I | UniProtKB/Swiss-Prot |
| Ion_trans_dom | UniProtKB/Swiss-Prot | |
| VDCC_T_a1 | UniProtKB/Swiss-Prot | |
| VDCCAlpha1 | UniProtKB/Swiss-Prot | |
| Volt_channel_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:8911 | UniProtKB/Swiss-Prot |
| NCBI Gene | 8911 | ENTREZGENE |
| OMIM | 608230 | OMIM |
| PANTHER | PTHR10037:SF209 | UniProtKB/Swiss-Prot |
| Pfam | Ion_trans | UniProtKB/Swiss-Prot |
| PharmGKB | PA26011 | PharmGKB |
| PRINTS | CACHANNEL | UniProtKB/Swiss-Prot |
| TVDCCALPHA1 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.125116 | ENTREZGENE |
| UniProt | CAC1I_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
| UniProt Secondary | B0QY12 | UniProtKB/Swiss-Prot |
| B0QY13 | UniProtKB/Swiss-Prot | |
| B0QY14 | UniProtKB/Swiss-Prot | |
| O95504 | UniProtKB/Swiss-Prot | |
| Q5JZ88 | UniProtKB/Swiss-Prot | |
| Q7Z6S9 | UniProtKB/Swiss-Prot | |
| Q8NFX6 | UniProtKB/Swiss-Prot | |
| Q9NZC8 | UniProtKB/Swiss-Prot | |
| Q9UH15 | UniProtKB/Swiss-Prot | |
| Q9UH30 | UniProtKB/Swiss-Prot | |
| Q9ULU9 | UniProtKB/Swiss-Prot | |
| Q9UNE6 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-10 | CACNA1I | calcium voltage-gated channel subunit alpha1 I | calcium channel, voltage-dependent, T type, alpha 1I subunit | Symbol and/or name change | 5135510 | APPROVED |
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| More on CACNA1I | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 68996 |
| Created: | 2001-11-06 |
| Species: | Homo sapiens |
| Last Modified: | 2019-10-16 |
| Status: | ACTIVE |
