Description
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) [Source:HGNC Symbol;Acc:6218]
Gene Synonyms
AEMK, EA1, HBK1, HUK1, KV1.1, Kv1.1, MBK1, MK1, RBK1
Location
Chromosome 12: 5,019,071-5,040,527 forward strand.
GRCh37:CM000674.1
About this gene
This gene has 3 transcripts (splice variants), 246 orthologues, 31 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000382545.3 | KCNA1-001 | 7976 | 495aa | ENSP00000371985.3 | Protein coding | CCDS8535 | Q09470 | NM_000217.2 | Ensembl Canonical, GENCODE Basic, |
| ENST00000543874.2 | KCNA1-003 | 567 | No protein | - | Processed transcript | - | - | - | |
| ENST00000541095.1 | KCNA1-002 | 481 | No protein | - | Processed transcript | - | - | - |

