KEGG   Homo sapiens (human): 7809
Entry
7809              CDS       T01001                                 
Symbol
BSND, BART, DFNB73
Name
(RefSeq) barttin CLCNK type accessory subunit beta
  KO
K19331  barttin (chloride channel Ka/b beta subunit)
Organism
hsa  Homo sapiens (human)
Disease
H00239  Bartter syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    7809 (BSND)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   7809 (BSND)
SSDB
Motif
Pfam: Barttin Got1 DUF2157 DUF6148
Other DBs
NCBI-GeneID: 7809
NCBI-ProteinID: NP_476517
OMIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399
UniProt: Q8WZ55 Q5VU50
Position
1:54998933..55017172
AA seq 320 aa
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
DGAGDLLPDKELGFEPDTQG
NT seq 963 nt   +upstreamnt  +downstreamnt
atggctgacgagaagaccttccggatcggcttcattgtgctggggcttttcctgctggcc
ctcggtacgttcctcatgagccatgatcggccccaggtctacggcaccttctatgccatg
ggcagcgtcatggtgatcgggggcatcatctggagcatgtgccagtgctaccccaagatc
accttcgtccctgctgactctgactttcaaggcatcctctccccaaaggccatgggcctg
ctggagaatgggcttgctgccgagatgaagagccccagtccccagccgccctatgtaagg
ctgtgggaggaagccgcctatgaccagagcctgcctgacttcagccacatccagatgaaa
gtcatgagctacagtgaggaccaccgctccttgctggcccctgagatggggcagccgaag
ctgggaaccagtgatggaggagaaggtggccctggcgacgttcaggcctggatggaggct
gccgtggtcatccacaagggctcagacgagagtgaaggggaaagacgcctaactcagagc
tggcccggccccctggcctgtccccagggccctgcccccttggcttccttccaagatgac
ctggacatggactccagtgaaggcagcagccccaatgcatctccacatgacagggaggaa
gcttgttccccacaacaggaacctcagggctgcaggtgcccgctggaccgcttccaagac
tttgccctgattgatgccccaacgttggaggatgagccccaagaggggcagcagtgggaa
atagccctgcccaacaactggcagcggtacccaaggacaaaggtggaggagaaggaggct
tcggacacaggtggggaggaacctgagaaggaagaggaagacctgtactatgggctgcca
gatggagccggggacctcctcccggacaaggagctgggttttgagcctgacacccaaggc
tga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (7)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
Protein domain (4)   
   Pfam (4)   
All databases (34)   

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