KCNA1 (potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia))

Identity

Other names	AEMK
	EA1
	HBK1
	HUK1
	KV1.1
	MBK1
	MGC126782
	MGC138385
	MK1
	RBK1
HGNC	KCNA1
Location	12p13
Location_base_pair	Starts at 4889334 and ends at 4897683 bp from pter ( according to hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

External links

	Nomenclature
HGNC	KCNA1   6218
Entrez_Gene	KCNA1  3736  potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
	Cards
GeneCards	KCNA1
Ensembl	KCNA1 [Search_View]   ENSG00000111262 [Gene_View]
Genatlas	KCNA1
GeneLynx	KCNA1
eGenome	KCNA1
euGene	3736
	Genomic and cartography
GoldenPath	KCNA1  -  12p13   chr12:4889334-4897683 +  12p13.32   [Description]    (hg18-March_2006)
Ensembl	KCNA1 - 12p13.32 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	KCNA1
	Gene and transcription
Genbank	BC101733 [ ENTREZ ]
Genbank	BC112180 [ ENTREZ ]
Genbank	DA236475 [ ENTREZ ]
Genbank	L02750 [ ENTREZ ]
RefSeq	NM_000217 [ SRS ]    NM_000217 [ ENTREZ ]
RefSeq	AC_000055 [ SRS ]    AC_000055 [ ENTREZ ]
RefSeq	AC_000144 [ SRS ]    AC_000144 [ ENTREZ ]
RefSeq	NC_000012 [ SRS ]    NC_000012 [ ENTREZ ]
RefSeq	NT_009759 [ SRS ]    NT_009759 [ ENTREZ ]
RefSeq	NW_001838049 [ SRS ]    NW_001838049 [ ENTREZ ]
RefSeq	NW_925295 [ SRS ]    NW_925295 [ ENTREZ ]
AceView	KCNA1 AceView - NCBI
Unigene	Hs.416139 [ SRS ]    Hs.416139 [ NCBI ]     HS416139 [ spliceNest ]
	Protein : pattern, domain, 3D structure
SwissProt	Q09470 [ SRS]    Q09470 [ EXPASY ]     Q09470 [ INTERPRO ]     Q09470 [ UNIPROT ]
Interpro	IPR000210 BTB/POZ-like [ SRS ]    IPR000210 BTB/POZ-like [ EBI ]
Interpro	IPR011333 BTB/POZ_fold [ SRS ]    IPR011333 BTB/POZ_fold [ EBI ]
Interpro	IPR005821 Ion_trans [ SRS ]    IPR005821 Ion_trans [ EBI ]
Interpro	IPR003091 K_chnl [ SRS ]    IPR003091 K_chnl [ EBI ]
Interpro	IPR003968 K_chnl_volt-dep_Kv [ SRS ]    IPR003968 K_chnl_volt-dep_Kv [ EBI ]
Interpro	IPR003972 K_chnl_volt-dep_Kv1 [ SRS ]    IPR003972 K_chnl_volt-dep_Kv1 [ EBI ]
Interpro	IPR004048 K_chnl_volt-dep_Kv1.1 [ SRS ]    IPR004048 K_chnl_volt-dep_Kv1.1 [ EBI ]
Interpro	IPR003131 K_chnl_volt-dep_Kv_tetra [ SRS ]    IPR003131 K_chnl_volt-dep_Kv_tetra [ EBI ]
CluSTr	Q09470
Pfam	PF00520 Ion_trans [ SRS ]    PF00520 Ion_trans [ Sanger ]    pfam00520 [ NCBI-CDD ]
Pfam	PF02214 K_tetra [ SRS ]    PF02214 K_tetra [ Sanger ]    pfam02214 [ NCBI-CDD ]
Smart	SM00225 BTB [EMBL]
Blocks	Q09470
PDB	2AFL [ SRS ]    2AFL [ PdbSum ],   2AFL [ IMB ]   2AFL [ RSDB ]
HPRD	08885
	Protein Interaction databases
DIP	Q09470
IntAct	Q09470
	Polymorphism : SNP, mutations, diseases
OMIM	160120;176260    [ map ]
GENECLINICS	160120;176260
SNP	KCNA1 [dbSNP-NCBI]
SNP	NM_000217 [SNP-NCI]
SNP	KCNA1 [GeneSNPs - Utah]  KCNA1] [HGBASE - SRS]
HAPMAP	KCNA1 [HAPMAP]
COSMIC	KCNA1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	KCNA1
	General knowledge
Family Browser	KCNA1 [UCSC Family Browser]
SOURCE	NM_000217
SMD	Hs.416139
SAGE	Hs.416139
GO	voltage-gated ion channel activity [Amigo]  voltage-gated ion channel activity
GO	voltage-gated potassium channel activity [Amigo]  voltage-gated potassium channel activity
GO	delayed rectifier potassium channel activity [Amigo]  delayed rectifier potassium channel activity
GO	protein binding [Amigo]  protein binding
GO	ion transport [Amigo]  ion transport
GO	potassium ion transport [Amigo]  potassium ion transport
GO	potassium ion transport [Amigo]  potassium ion transport
GO	synaptic transmission [Amigo]  synaptic transmission
GO	voltage-gated potassium channel complex [Amigo]  voltage-gated potassium channel complex
GO	voltage-gated potassium channel complex [Amigo]  voltage-gated potassium channel complex
GO	potassium ion transmembrane transporter activity [Amigo]  potassium ion transmembrane transporter activity
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
GO	potassium ion binding [Amigo]  potassium ion binding
BIOCARTA	Roles of §-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling    [Genes]
BIOCARTA	§-arrestins in GPCR Desensitization    [Genes]
BIOCARTA	Role of §-arrestins in the activation and targeting of MAP kinases    [Genes]
PubGene	KCNA1
TreeFam	KCNA1
CTD	3736 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	KCNA1 Related clones (RZPD - Berlin)
	PubMed
PubMed	34 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 14:47:23 2008