(Translated by
https://www.hiragana.jp/
)
KEGG T01001: 9990
Homo sapiens (human): 9990
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Entry
9990 CDS
T01001
Symbol
SLC12A6, ACCPN, CMT2II, KCC3, KCC3A, KCC3B
Name
(RefSeq) solute carrier family 12 member 6
KO
K14427
solute carrier family 12 (potassium/chloride transporter), member 4/6
Organism
hsa
Homo sapiens (human)
Disease
H00264
Charcot-Marie-Tooth disease
H00816
Agenesis of the corpus callosum with peripheral neuropathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
9990 (SLC12A6)
Transporters [BR:
hsa02000
]
Solute carrier family (SLC)
SLC12: Electroneutral cation-coupled Cl cotransporter
9990 (SLC12A6)
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Gene cluster
GFIT
Motif
Pfam:
AA_permease
SLC12
AA_permease_2
Motif
Other DBs
NCBI-GeneID:
9990
NCBI-ProteinID:
NP_598408
OMIM:
604878
HGNC:
10914
Ensembl:
ENSG00000140199
Pharos:
Q9UHW9
(Tbio)
UniProt:
Q9UHW9
Structure
PDB
PDBj
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All DBs
Position
15:complement(34229784..34338057)
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AA seq
1150 aa
AA seq
DB search
MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
GGSEVITIYS
NT seq
3453 nt
NT seq
+upstream
nt +downstream
nt
atgcatcctccagaaaccaccaccaagatggcttcagttcggttcatggtgacaccgaca
aagatcgatgacattccaggtttgtcagacaccagtccggacctcagctctcgatctagt
tcccgagtaagatttagctcccgggaaagcgtgcctgaaacaagccggagtgagcctatg
agtgagatgtctggggccaccacttcgctggcaactgttgcactggatccacccagtgac
cggacttctcacccccaggatgtcatcgaggacctgagtcagaactccatcacaggggaa
cacagccaactgttagacgacggacataagaaagctcgaaatgcttatctcaataattcc
aattatgaagaaggagatgaatattttgataaaaatttggcactctttgaggaagaaatg
gacaccagaccgaaggtgtcttccctcctcaaccgcatggccaattacactaatctgact
caaggagcaaaggaacatgaagaggcagaaaacatcactgaagggaaaaagaagcccacc
aagaccccccaaatgggtaccttcatgggtgtctacctcccatgtctacaaaatattttt
ggagtgatcctttttttacgccttacatgggtggtgggcacagctggagttcttcaggct
tttgcaattgtccttatctgctgctgctgtacaatgttgactgctatctccatgagtgcc
attgccactaatggagtggtgccagctgggggctcatactttatgatttcccgggcactg
ggcccagagtttggtggggctgttggcctctgcttttatcttggtaccacatttgcagca
gccatgtacatccttggtgccattgaaatctttctggtctatatcgtcccccgagctgcc
atctttcacagtgatgacgcactcaaggaatcagcagccatgctaaataacatgcgtgtc
tacggcacagctttcttggtccttatggtattagtggtatttatcggcgtacgctatgtg
aacaagtttgcctcacttttcctggcctgtgtcattgtgtccatcttggccatctatgct
ggagccatcaagtcttcttttgctcctccacacttcccggtctgcatgctgggtaaccgc
accctttcatcaagacacattgacgtttgctctaagaccaaggaaattaacaacatgaca
gtcccatcaaagttatggggattcttctgtaactcgagtcaatttttcaatgccacctgt
gatgaatactttgttcacaataacgtcacttcaatccagggcattcctggattggctagt
ggtataattacagagaatctttggagtaattacctacccaagggagagatcatcgaaaag
ccttcagccaaatcttctgatgtcttaggcagcttaaaccatgaatatgttcttgttgac
atcaccacctccttcacgcttctggtgggaatcttctttccctctgttacaggtatcatg
gctggatcaaacagatctggagatctgaaagatgctcagaagtctattccgattggtact
atccttgccatcctgaccacctcctttgtttatttaagcaatgttgtcctttttggtgca
tgtattgaaggggttgttctcagagacaagttcggtgatgctgtgaaaggtaatttggtg
gtaggcaccttatcttggccatccccatgggtgattgttattggctccttcttttcaaca
tgtggggctggacttcagagcctcacaggtgcaccgaggctgctacaagctattgccaag
gataacatcataccgtttctgagggtttttggccacagcaaagccaatggggaacctacc
tgggctttacttctaactgctgccattgcagagcttggaatactcattgcctccctggat
cttgtggccccaattctttccatgttttttctcatgtgttacctctttgtaaacttggca
tgtgccttgcaaacattacttcgaacacccaactggagaccccgattccgctactaccat
tgggccctttctttcatgggaatgagtatctgtctggctctgatgttcatttcttcctgg
tattatgccattgtagccatggtaatagctggtatgatctacaagtacattgaataccaa
ggagctgagaaagaatggggtgatggtatccgtgggctgtccctcagtgcagcccggttt
gctttgcttcgattggaggaaggacctccacacactaaaaactggaggcctcagttgctt
gtattactgaaactagatgaagacttacatgtcaagcatcctcgcctcctcacctttgcc
tcacagctcaaagcaggaaaaggtctcactattgtgggctctgtcatcgtggggaacttc
ctagagaactacggtgaagctttagctgctgagcagaccataaagcacctaatggaggca
gagaaggtaaaaggattctgccagctggtggtggccgccaagctgagagagggcatttcc
cacctcatccagtcatgtggccttgggggcatgaagcacaacacggtggtgatgggctgg
cctaatggctggcgtcaaagcgaagatgcccgcgcttggaagacttttattggcacagtt
cgagtgacaactgctgcccatcttgcactgctggtggctaaaaacatctccttctttccc
agcaatgtggagcaattttctgagggcaacattgatgtgtggtggattgtgcatgatggg
gggatgcttatgctactaccattcctactgaaacagcacaaggtgtggcgaaagtgcagc
atacggatcttcacagtagcccaattagaagacaacagtatccaaatgaagaaggaccta
gccaccttcctatatcacttacgcattgaggcggaggtagaagtggtggagatgcatgac
agtgatatatcagcatatacttacgagcgcactttgatgatggaacaaaggtcccagatg
ctccggcacatgcggctatccaaaacagagcgagacagagaggcacaattggtgaaagac
cgaaactcaatgctacgattgaccagcattggctctgatgaggacgaagagacagaaacc
tatcaggagaaggtgcacatgacttggacaaaagacaagtacatggcatcccggggacaa
aaagcgaagtcaatggaaggattccaggacctgcttaacatgcgtccggaccagtccaat
gtgaggcggatgcatacagcagtgaaactcaacgaggttatagttaacaagtcccatgaa
gcaaagctggttttattgaatatgccagggccaccccgaaaccctgagggtgatgaaaac
tacatggagttcctagaggtgcttaccgagggactagagcgagtcctacttgtccggggt
ggtggcagtgaagtgatcaccatttattcataa
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integrated database retrieval system