KEGG   Homo sapiens (human): 6557
Entry
6557              CDS       T01001                                 
Symbol
SLC12A1, BSC, BSC-1, BSC1, CCC2, NKCC2
Name
(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<JP>
Bumetanide: D00247<US>
Chlortalidone: D00272<US>
Etacrynic acid (DG00274): D00313<US> D04079<US>
Etozolin: D04111
Flumethiazide: D02453
Furosemide (DG00272): D00331<JP/US> D07999 D08001
Hydroflumethiazide: D00654
Methyclothiazide: D00656
Muzolimine: D05093
Piretanide: D01634
Quinethazone: D00461
Tienilic acid: D02386
Torasemide (DG00273): D00382<JP/US> D08619
Trichlormethiazide: D00658<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6557 (SLC12A1)
   04147 Exosome [BR:hsa04147]
    6557 (SLC12A1)
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)
SSDB
Motif
Pfam: SLC12 AA_permease AA_permease_N AA_permease_2 DUF1616 YrhC
Other DBs
NCBI-GeneID: 6557
NCBI-ProteinID: NP_000329
OMIM: 600839
HGNC: 10910
Ensembl: ENSG00000074803
UniProt: Q13621 Q8IUN5
Position
15:48206302..48304078
AA seq 1099 aa
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS
NT seq 3300 nt   +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

  All links  
Disease (2)   
   OMIM (2)   
Gene (14)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (29)   
   RefSeq(nuc) (3)   
   GenBank (13)   
   EMBL (13)   
Protein domain (6)   
   Pfam (6)   
All databases (57)   

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