KEGG   Homo sapiens (human): 6557Help
Entry
6557              CDS       T01001                                 

Gene name
SLC12A1, BSC1, NKCC2
Definition
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
Orthology
K14425  
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
Organism
hsa  Homo sapiens (human)
Disease
H00239  
Bartter syndrome
Drug target
Furosemide: 
Bumetanide: 
Piretanide: 
Torasemide: 
Etacrynic acid: 
Muzolimine: 
Other: 
Brite
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6557 (SLC12A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
15q15-q21.1
AA seq 1099 aa AA seqDB search
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS
NT seq 3300 nt NT seq  +upstreamnt  +downstreamnt
atgtcactgaacaactcttccaatgtatttctggattcagtgcccagtaataccaatcgc
tttcaagttagtgtcataaatgagaaccatgagagcagtgcagctgcagatgacaatact
gacccaccacattatgaagaaacctcttttggggatgaagctcagaaaagactcagaatc
agctttaggcctgggaatcaggagtgctatgacaatttcctccaaagtggagaaactgct
aaaacagatgccagttttcacgcttatgattctcacacaaacacatactatctacaaact
tttggccacaacaccatggatgccgttcccaagatagagtactatcgtaacaccggcagc
atcagtgggcccaaggtcaaccgacccagcctgcttgagattcacgagcaactcgcaaag
aatgtggcagtcaccccaagttcagctgacagagttgctaacggtgatgggatacctgga
gatgaacaagctgaaaataaggaagatgatcaagctggtgttgtgaagtttggatgggtg
aaaggtgtgctggtaagatgcatgctgaacatctggggagtcatgctcttcattcgcctc
tcctggattgttggagaagctggaattggtcttggagttctcataattcttctttccacc
atggtaacttctattactgggttgtcaacttctgcgatagcaactaacgggtttgttcgt
ggaggtggggcctactatcttatttccagaagtttagggcccgagttcggtgggtcaata
ggcctgatctttgcttttgctaatgcagtggctgttgctatgtatgtggtgggatttgct
gagactgtagtagatcttcttaaggagagtgattcgatgatggtggatccaaccaatgac
atccggattataggctccatcacagtggtgattcttctaggaatttcagtagctggaatg
gaatgggaggcaaaggcccaagtcattcttctggtcattcttctaattgctattgcaaac
ttcttcattggaactgtcattccatccaacaatgagaaaaagtccagaggtttctttaat
taccaagcatcaatatttgcagaaaactttgggccacgcttcacaaagggtgaaggcttc
ttctctgtctttgccatttttttcccagcagctactgggattcttgctggtgccaatatc
tcaggagatttggaggatccccaagatgccatccccagaggaaccatgctggccattttc
atcaccactgttgcctacttaggggttgcaatttgtgtaggggcctgtgtggtccgagat
gccaccgggaacatgaatgacaccatcatttctgggatgaactgcaatggttcagcagca
tgtgggttgggctatgacttctcaagatgtcgacatgaaccatgtcagtacgggctgatg
aacaatttccaggtcatgagcatggtatcagggttcggccccctcatcactgcgggaatc
ttttctgcaacactctcctccgccctggcctcccttgtcagcgcacccaaagtgttccag
gctctgtgcaaggacaacatctacaaagccctgcagttttttgcaaagggatatgggaaa
aacaatgaacccctgagaggatatattctcacttttcttatagccatggcatttattctt
attgcggaactgaacaccattgctcccatcatctccaactttttcctggcctcatatgca
cttattaatttctcctgcttccatgcctcttatgccaaatctccaggatggagacctgcg
tatggaatttacaacatgtgggtatctctttttggagctgttttgtgctgtgcagtcatg
tttgtcatcaactggtgggcagctgtcatcacctatgtcattgaattcttcctttacgtc
tatgtgacttgtaagaagccagatgtgaactggggctcctccacacaggctctttcctac
gtgagtgctttagacaatgctctggaattaaccacagtggaagaccacgtaaaaaacttc
aggccccagtgcattgtcttaacagggggacccatgacaagacctgctctcctggacata
actcacgcctttaccaagaacagtggcctttgcatctgctgtgaagtctttgtgggaccg
cgcaaactgtgtgttaaggagatgaacagtggcatggcgaaaaaacaggcctggcttata
aagaacaaaatcaaggctttttatgctgcagtggcggcagactgtttcagggatggtgtc
cgaagtcttcttcaggcctcaggcttaggaagaatgaaaccaaacactctggtgattgga
tataagaaaaactggaggaaagctcccttgacagagattgagaactacgtgggaatcata
catgatgcatttgattttgagattggcgtggttatagtcagaatcagccaaggatttgac
atctctcaggttcttcaggtgcaagaggaattagagagattagaacaggagagactagca
ttggaagcgactatcaaagataatgagtgtgaagaggaaagtggaggcatccgaggcttg
tttaaaaaagctggcaagttgaacattactaagacaacgcctaaaaaagatggcagcatt
aacacaagccagtcgatgcatgtgggagagttcaaccagaaactggtggaagccagcact
caatttaaaaagaaacaagaaaaaggcacaattgatgtttggtggttgtttgatgatgga
gggttaacacttcttatcccctatatcttaactctcagaaaaaaatggaaagactgtaaa
ttaagaatctatgtgggagggaagatcaaccgcattgaagaagaaaaaattgtaatggct
tcccttctgagcaaatttaggataaaatttgcagacatccatatcatcggtgacatcaac
attaggccaaacaaagagagctggaaagtctttgaagagatgattgaaccatatcgtctc
catgaaagctgcaaagatttaacaactgctgagaaattaaaaagagaaactccgtggaaa
attacagatgcagaactggaagcagtcaaggaaaagagttaccgccaagttcgactgaat
gaactcttacaggagcactccagagctgctaatctcattgtcctgagccttcccgtggca
agaaagggatccatatcggatttgttgtatatggcttggttggaaatcctcacaaagaac
ctcccacctgtcttactagttagaggaaatcacaaaaatgtcttgacattttactcttaa

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