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|---|---|
| Accession Number: | Q09470 |
| Protein Name: | Potassium voltage-gated channel subfamily A member 1 |
| Length: | 495 |
| Molecular Weight: | 56466.00 |
| Species: | [9606] |
| Number of TMSs: | 6 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | |
Cross database links:
| RefSeq: | NP_000208.2 |
|---|---|
| Entrez Gene ID: | 3736 |
| Pfam: | PF00520 PF02214 |
| OMIM: |
160120 phenotype 176260 gene |
| KEGG: | hsa:3736 |
Gene Ontology
GO:0044224
C:juxtaparanode region of axon
GO:0008076
C:voltage-gated potassium channel complex
GO:0005251
F:delayed rectifier potassium channel activity
GO:0015079
F:potassium ion transmembrane transporter act...
GO:0006813
P:potassium ion transport
GO:0007268
P:synaptic transmission
GO:0055085
P:transmembrane transport
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References (15)[1] “The finished DNA sequence of human chromosome 12.” Scherer S.E.et.al. 16541075 [2] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [3] “Cloning and characterization of a cDNA encoding a human brain potassium channel.” Freeman S.N.et.al. 2128063 [4] “Nervous system targets of RNA editing identified by comparative genomics.” Hoopengardner B.et.al. 12907802 [5] “The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.” Gubitosi-Klug R.A.et.al. 15837928 [6] “Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.” Browne D.L.et.al. 7842011 [7] “Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.” Browne D.L.et.al. 8541859 [8] “Episodic ataxia results from voltage-dependent potassium channels with altered functions.” Adelman J.P.et.al. 8845167 [9] “Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.” Comu S.et.al. 8871592 [10] “Three novel KCNA1 mutations in episodic ataxia type I families.” Scheffer H.et.al. 9600245 [11] “A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.” Zuberi S.M.et.al. 10355668 [12] “Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.” Eunson L.H.et.al. 11026449 [13] “Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem.” Knight M.A.et.al. 11013453 | |
| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN 61: TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY 121: ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS 181: IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF 241: FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF 301: RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP 361: DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE 421: GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT 481: ANQNCVNKSK LLTDV