QuickView for KCNA1 (gene)

Gene Symbol:

KCNA1 Homo sapiens

Full name:

potassium voltage-gated channel subfamily A member 1

Synonyms:

AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1, potassium voltage-gated channel subfamily A member 1, potassium channel, voltage gated shaker related subfamily A, member 1, potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia), voltage-gated K(+) channel HuKI, voltage-gated potassium channel HBK1, voltage-gated potassium channel subunit Kv1.1

Genomic Location:

Chr 12: 4889334-4897683

Description:

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-...

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This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  FOXO1_02 ,  GATTGGY_NFY_Q6_01 ,  RTAAACA_FREAC2_01 ,  ZIC1_01 ,  EFC_Q6 ,  SRF_Q6 ,  NGFIC_01 ,  SRY_01 ,  CDPCR3HD_01 ,  CAGGTA_AREB6_01 ,  RREB1_01 ,  RRAGTTGT_UNKNOWN ,  YGCANTGCR_UNKNOWN ,  CDPCR1_01 ,  GGGCGGR_SP1_Q6 ,  TGCTGAY_UNKNOWN ,  SRF_Q4 ,  E2F1_Q3_01 ,  AP2_Q3 ,  TTGTTT_FOXO4_01 ,  ZIC2_01 ,  E2F1_Q3 ,  SRF_Q5_01 ,  SMAD_Q6 ,  E2F_Q3 ,  CRX_Q4 ,  CEBPGAMMA_Q6 ,  GGGTGGRR_PAX4_03 ,  TCF11_01

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Cytogenetic Map:

12p13.32

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