TRANSPORTERS FROM HUMANS:
| Transporter Information: | |
| Name: | potassium voltage-gated channel, Shab-related subfamily, member 1 |
|---|---|
| Symbol: | KCNB1 |
| TC: | 1.A.1.2.1 |
| Locations: | 20q13.2 |
| Aliases: | KV2.1 |
| Swiss-Prot: | Q14721 |
| Accession Number: | NM_004975 |
| GDB | GDB:128081 |
| LocusLink | 3745 |
| OMIM | 600397 |
| PubMed (7774931): | Melis R, Stauffer D, Zhao X, Zhu XL, Albrecht B, Pongs O, Brothman A,Leppert M. Physical and genetic localization of a Shab subfamily potassium channel (KCNB1)gene to chromosomal region 20q13.2.Genomics. 1995 Jan 1;25(1):285-7. PMID: 7774931 [PubMed - indexed for MEDLINE] A human delayed rectifier K+ channel gene has been localized to the long arm of human chromosome 20q13.2 by fluorescence in situ hybridization of genomic P1 clones from this locus. A polymorphic (GA) microsatellite repeat was identified in one of the P1 clones. The new SSR marker (D20S436) was genotyped in four CEPH pedigrees. Two-point linkage analysis indicated linkage of this marker to a PCR marker, D20S109, with a maximum lod score of 9.32 at theta = 0.001. The assignment of this K+ channel gene to 20q13.2 eliminates it as a candidate for the gene associated with benign familial neonatal convulsions (BFNC), which has been localized to 20q13.3. Genetically, the K+ channel gene maps more than 30 cM proximal to the BFNC locus. |
>Q14721|KCNB1_HUMAN Potassium voltage-gated channel subfamily B member 1 - Homo sapiens (Human).
MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLLEVCDDYSLDD
NEYFFDRHPGAFTSILNFYRTGRLHMMEEMCALSFSQELDYWGIDEIYLESCCQARYHQKKEQMNEELKREAETLREREG
EEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIVLSTIALSLNTLPELQSLDEFGQSTDNPQLAHVEAVCIAWF
TMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFRIMRILRILKLARHSTGLQSL
GFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTKFKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIA
GVLVIALPIPIIVNNFSEFYKEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQD
NHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLNVQQLEDMYNKMAKTQSQPILNTKESAAQSKPKEEL
EMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPEATRFSHSPLTSLPSKTGGSTAPEVGWRGALGASGGRFVEA
NPSPDASQHSSFFIESPKSSMKTNNPLKLRALKVNFMEGDPSPLLPVLGMYHDPLRNRGSAAAAVAGLECATLLDKAVLS
PESSIYTTASAKTPPRSPEKHTAIAFNFEAGVHQYIDADTDDEGQLLYSVDSSPPKSLPGSTSPKFSTGTRSEKNHFESS
PLPTSPKFLRQNCIYSTEALTGKGPSGQEKCKLENHISPDVRVLPGGGAHGSTRDQSI
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