| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel subunit alpha1 A |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:23:00 | An elongated tract of polyQ in the carboxylterminus of human alpha1A calcium channel induces cell apoptosis by nuclear translocation. | 32626992 |
| 2021-02-20 13:33:00 | Association of A Novel Splice Site Mutation in P/Q-Type with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia. | 32471306 |
| 2020-06-06 13:35:00 | These novel findings have important implications for understanding the role of AnkB and Cav2.1 in the regulation of neuronal function in health and disease. | 31477143 |
| 2020-05-09 11:14:00 | Cognitive disabilities and academic difficulties are common in children with CACNA1A mutations associated with episodic syndromes. | 31115040 |
| 2020-03-28 11:52:00 | Findings shed light on the critical role of alpha1ACT in facilitating neuronal development in both mice and humans and support a rationale for gene therapies for calcium-channel-associated cerebellar disorders. | 30922876 |
| Type | IDs |
|---|---|
| Synonymous | APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6 |
| Gene |
UniProtKB-ID:
CAC1A_HUMAN,
A0A087WW63_HUMAN,
B5TYJ1_HUMAN,
Q9NS89_HUMAN
UniprotKB:
O00555,
A0A087WW63,
B5TYJ1,
Q9NS89
UniParc:
UPI000007038F,
UPI000180EA34,
UPI000016A4C4,
UPI000002A592,
UPI000002A593,
UPI0000141565,
UPI000002A591,
UPI0000232DCB,
UPI000152B4F1
EMBL:
AC008540,
U79668,
AC005305,
FJ040507,
U79667,
AC026805,
AB035727,
U79663,
X99897,
AC098781,
AC124224,
U06702,
U79665,
KF456505,
U79666,
AB035726,
AC005513,
S76537,
Z80115,
AF004884,
U79664,
AC093062,
AC011446,
AF004883,
AC022436,
Z80114
Ensembl:
ENSG00000141837
KO:
hsa:773
|
| Nucleutide sequences |
EMBL-CDS:
CAA68172.1,
AAB33068.1,
AAB49675.1,
AAB49674.1,
AAB49678.1,
AAB61613.1,
BAA94766.2,
AAB61612.1,
AAC26839.1,
AAB64179.1,
AAB49677.1,
AAB49676.1,
ACH89974.1,
BAA94765.1
Ensembl_TRS:
ENST00000360228,
ENST00000637276,
ENST00000638009,
ENST00000637432,
ENST00000638029,
ENST00000614285,
ENST00000636549
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000353362,
ENSP00000489913,
ENSP00000489777,
ENSP00000490617,
ENSP00000479983,
ENSP00000489829,
ENSP00000490578
RefSeq:
NP_001120694.1,
NP_075461.2,
NP_001167551.1,
NP_001120693.1,
NP_000059.3
|
| Others |
UniRef100:
UniRef100_A0A590UJK2,
UniRef100_A0A087WW63,
UniRef100_Q9NS89,
UniRef100_O00555
UniRef90:
UniRef90_O00555,
UniRef90_Q9NS89,
UniRef90_A0A087WW63,
UniRef90_A0A452EY22
UniRef50:
UniRef50_G1M2L5,
UniRef50_O00555
UniGene:
Hs.501632
CCDS:
CCDS82301.1,
CCDS45998.1,
CCDS45999.1
|
| {{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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||||
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