KEGG   Homo sapiens (human): 7809Help
Entry
7809              CDS       T01001                                 

Gene name
BSND, BART, DFNB73
Definition
(RefSeq) barttin CLCNK type accessory beta subunit
  KO
K19331  barttin
Organism
hsa  Homo sapiens (human)
Disease
H00239  Bartter syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    7809 (BSND)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Barttin Imm17 Got1 DUF2157
Motif
Other DBs
NCBI-GeneID: 7809
NCBI-ProteinID: NP_476517
OMIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399
Vega: OTTHUMG00000008112
Pharos: Q8WZ55(Tbio)
UniProt: Q8WZ55 Q5VU50
Position
1p32.3
AA seq 320 aa AA seqDB search
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
DGAGDLLPDKELGFEPDTQG
NT seq 963 nt NT seq  +upstreamnt  +downstreamnt
atggctgacgagaagaccttccggatcggcttcattgtgctggggcttttcctgctggcc
ctcggtacgttcctcatgagccatgatcggccccaggtctacggcaccttctatgccatg
ggcagcgtcatggtgatcgggggcatcatctggagcatgtgccagtgctaccccaagatc
accttcgtccctgctgactctgactttcaaggcatcctctccccaaaggccatgggcctg
ctggagaatgggcttgctgccgagatgaagagccccagtccccagccgccctatgtaagg
ctgtgggaggaagccgcctatgaccagagcctgcctgacttcagccacatccagatgaaa
gtcatgagctacagtgaggaccaccgctccttgctggcccctgagatggggcagccgaag
ctgggaaccagtgatggaggagaaggtggccctggcgacgttcaggcctggatggaggct
gccgtggtcatccacaagggctcagacgagagtgaaggggaaagacgcctaactcagagc
tggcccggccccctggcctgtccccagggccctgcccccttggcttccttccaagatgac
ctggacatggactccagtgaaggcagcagccccaatgcatctccacatgacagggaggaa
gcttgttccccacaacaggaacctcagggctgcaggtgcccgctggaccgcttccaagac
tttgccctgattgatgccccaacgttggaggatgagccccaagaggggcagcagtgggaa
atagccctgcccaacaactggcagcggtacccaaggacaaaggtggaggagaaggaggct
tcggacacaggtggggaggaacctgagaaggaagaggaagacctgtactatgggctgcca
gatggagccggggacctcctcccggacaaggagctgggttttgagcctgacacccaaggc
tga

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