KEGG   Homo sapiens (human): 6557
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<JP>
Bumetanide: D00247<JP/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
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
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  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (20)   
   KEGG DRUG (20)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (29)   
   RefSeq(nuc) (3)   
   GenBank (13)   
   EMBL (13)   
Protein domain (4)   
   Pfam (4)   
All databases (83)   

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