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

Gene name
SLC12A1, BSC1, NKCC2
Definition
(RefSeq) solute carrier family 12 member 1
  KO
K14425  solute carrier family 12 (sodium/potassium/chloride transporter), member 1
Organism
hsa  Homo sapiens (human)
Disease
H00239  Bartter syndrome
Drug target
Alilusem potassium: D09772
Azosemide: D01323
Bumetanide: D00247
Chlortalidone: D00272
Etacrynic acid (DG00274): D00313 D04079
Etozolin: D04111
Furosemide (DG00272): D00331 D07999 D08001
Hydroflumethiazide: D00654
Methyclothiazide: D00656
Muzolimine: D05093
Piretanide: D01634
Quinethazone: D00461
Tienilic acid: D02386
Torasemide (DG00273): D00382 D08619
Trichlormethiazide: D00658
Brite
Transporters [BR:hsa02000]
 Solute Carrier Family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   6557 (SLC12A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6557 (SLC12A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SLC12 AA_permease AA_permease_N AA_permease_2
Motif
Other DBs
NCBI-GeneID: 6557
NCBI-ProteinID: NP_000329
OMIM: 600839
HGNC: 10910
Ensembl: ENSG00000074803
Vega: OTTHUMG00000131495
Pharos: Q13621(Tclin)
UniProt: Q13621 Q8IUN5
Position
15q21.1
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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