| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel subunit alpha1 H |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:46:00 | Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma. | 31983310 |
| 2021-02-06 13:58:00 | Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism. | 32785697 |
| 2021-02-06 13:52:00 | A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity. | 32143681 |
| 2020-07-18 11:03:00 | The present work shows that the exacerbated expression of Cdk5 in a preclinical model of neuropathic pain increases the functional expression of CaV3.2 channels | 31744861 |
| 2020-06-06 11:30:00 | Five children with CACNA1H gene mutations exhibited phenotypes consisting of generalized, focal, and multifocal epilepsy ranging in severity from mild to severe intractable epilepsy. The spectrum of CACNA1H mutations can involve other organ systems (immunologic and gastrointestinal) in addition to epilepsy, developmental delay, and autism. | 30686625 |
| Type | IDs |
|---|---|
| Synonymous | CACNA1HB, Cav3.2, ECA6, EIG6, HALD4 |
| Gene |
UniProtKB-ID:
CAC1H_HUMAN,
A0A1W2PQW2_HUMAN,
B3KQH9_HUMAN
UniprotKB:
O95180,
A0A1W2PQW2,
B3KQH9
UniParc:
UPI000387B25D,
UPI000015D902,
UPI00001FF9BA,
UPI000012727B
EMBL:
AK074965,
AF073931,
AF051946,
AL031703,
AF223562,
AE006466,
AC120498,
AF223563,
AJ420779
Ensembl:
ENSG00000196557
KO:
hsa:8912
|
| Nucleutide sequences |
EMBL-CDS:
AAF60163.1,
AAK61268.1,
AAC67239.3,
AAF60162.1,
AAD17668.1,
CAC42094.1,
CAD12646.1,
BAG52041.1
Ensembl_TRS:
ENST00000348261,
ENST00000565831,
ENST00000358590,
ENST00000639478
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000334198,
ENSP00000351401,
ENSP00000455840,
ENSP00000491945
RefSeq:
XP_006721030.1,
XP_006721027.1,
XP_006721026.1,
XP_005255709.1,
XP_006721031.1,
XP_016879309.1,
XP_016879308.1,
XP_006721028.1,
NP_001005407.1,
XP_016879310.1,
XP_011521026.1,
NP_066921.2,
XP_011521029.1
|
| Others |
UniRef100:
UniRef100_B3KQH9,
UniRef100_A0A1W2PQW2,
UniRef100_O95180
UniRef90:
UniRef90_A0A1W2PQW2,
UniRef90_O95180,
UniRef90_H3BNT0
UniRef50:
UniRef50_A0A663MQ88,
UniRef50_H3BNT0,
UniRef50_O95180
UniGene:
Hs.459642
CCDS:
CCDS45375.1,
CCDS45376.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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