KEGG   Homo sapiens (human): 55107
Entry
55107             CDS       T01001                                 
Symbol
ANO1, DOG1, INDMS, ORAOV2, TAOS2, TMEM16A
Name
(RefSeq) anoctamin 1
  KO
K19496  anoctamin-1
Organism
hsa  Homo sapiens (human)
Disease
H01396  Moyamoya disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    55107 (ANO1)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel, calcium-activated (CaCC)
   55107 (ANO1)
SSDB
Motif
Pfam: Anoctamin Anoct_dimer DUF2207_C
Other DBs
NCBI-GeneID: 55107
NCBI-ProteinID: NP_060513
OMIM: 610108
HGNC: 21625
Ensembl: ENSG00000131620
UniProt: Q5XXA6 Q9NW72
Position
11:69965997..70189530
AA seq 986 aa
MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRR
KVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYH
EDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKK
MYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSF
FDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKL
LYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATM
DENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWA
ATFMEHWKRKQMRLNYRWDLTGFEEEEEAVKDHPRAEYEARVLEKSLKKESRNKEKRRHI
PEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIFMIAVTFAIVLGVIIY
RISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEK
SFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMEL
CIQLSIIMLGKQLIQNNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLE
PFAGLTPEYMEMIIQFGFVTLFVASFPLAPLFALLNNIIEIRLDAKKFVTELRRPVAVRA
KDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNGTMHGFVNHTLSSFNV
SDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNL
VMFMSDFVDWVIPDIPKDISQQIHKEKVLMVELFMREEQDKQQLLETWMEKERQKDEPPC
NHHNTKACPDSLGSPAPSHAYHGGVL
NT seq 2961 nt   +upstreamnt  +downstreamnt
atgagggtcaacgagaagtactcgacgctcccggccgaggaccgcagcgtccacatcatc
aacatctgcgccatcgaggacatcggctacctgccgtccgagggcacgctgctgaactcc
ttatctgtggaccctgatgccgagtgcaagtatggcctgtacttcagggacggccggcgc
aaggtggactacatcctggtgtaccatcacaagaggccctcgggcaaccggaccctggtc
aggagggtgcagcacagcgacaccccctctggggctcgcagcgtcaagcaggaccacccc
ctgccgggcaagggggcgtcgctggatgcaggctcgggggagcccccgatggactaccac
gaggatgacaagcgcttccgcagggaggagtacgagggcaacctcctggaggcgggcctg
gagctggagcgggacgaggacactaaaatccacggagtcgggtttgtgaaaatccatgcc
ccctggaacgtgctgtgcagagaggccgagtttctgaaactgaagatgccgacgaagaag
atgtaccacattaatgagacccgtggcctcctgaaaaaaatcaactctgtgctccagaaa
atcacagatcccatccagcccaaagtggctgagcacaggccccagaccatgaagagactc
tcctatcccttctcccgggagaagcagcatctatttgacttgtctgataaggattccttt
ttcgacagcaaaacccggagcacgattgtctatgagatcttgaagagaacgacgtgtaca
aaggccaagtacagcatgggcatcacgagcctgctggccaatggtgtgtacgcggctgca
tacccactgcacgatggagactacaacggtgaaaacgtcgagttcaacgacagaaaactc
ctgtacgaagagtgggcacgctatggagttttctataagtaccagcccatcgacctggtc
aggaagtattttggggagaagatcggcctgtacttcgcctggctgggcgtgtacacccag
atgctcatccctgcctccatcgtgggaatcattgtcttcctgtacggatgcgccaccatg
gatgaaaacatccccagcatggagatgtgtgaccagagacacaatatcaccatgtgcccg
ctttgcgacaagacctgcagctactggaagatgagctcagcctgcgccacggcccgcgcc
agccacctcttcgacaaccccgccacggtcttcttctctgtcttcatggccctctgggct
gccaccttcatggagcactggaagcggaaacagatgcgactcaactaccgctgggacctc
acgggctttgaagaggaagaggaggctgtcaaggatcatcctagagctgaatacgaagcc
agagtcttggagaagtctctgaagaaagagtccagaaacaaagagaagcgccggcatatt
ccagaggagtcaacaaacaaatggaagcagagggttaagacagccatggcgggggtgaaa
ttgactgacaaagtgaagctgacatggagagatcggttcccagcctacctcactaacttg
gtctccatcatcttcatgattgcagtgacgtttgccatcgtcctcggcgtcatcatctac
agaatctccatggccgccgccttggccatgaactcctccccctccgtgcggtccaacatc
cgggtcacagtcacagccaccgcagtcatcatcaacctagtggtcatcatcctcctggac
gaggtgtatggctgcatagcccgatggctcaccaagatcgaggtcccaaagacggagaaa
agctttgaggagaggctgatcttcaaggctttcctgctgaagtttgtgaattcctacacc
cccatcttttacgtggcgttcttcaaaggccggtttgttggacgcccgggcgactacgtg
tacattttccgttccttccgaatggaagagtgtgcgccagggggctgcctgatggagcta
tgcatccagctcagcatcatcatgctggggaaacagctgatccagaacaacctgttcgag
atcggcatcccgaagatgaagaagctcatccgctacctgaagctgaagcagcagagcccc
cctgaccacgaggagtgtgtgaagaggaaacagcggtacgaggtggattacaacctggag
cccttcgcgggcctcaccccagagtacatggaaatgatcatccagtttggcttcgtcacc
ctgtttgtcgcctccttccccctggccccactgtttgcgctgctgaacaacatcatcgag
atccgcctggacgccaaaaagtttgtcactgagctccgaaggccggtagctgtcagagcc
aaagacatcggaatctggtacaatatcctcagaggcattgggaagcttgctgtcatcatc
aatgccttcgtgatctccttcacgtctgacttcatcccgcgcctggtgtacctctacatg
tacagtaagaacgggaccatgcacggcttcgtcaaccacaccctctcctccttcaacgtc
agtgacttccagaacggcacggcccccaatgaccccctggacctgggctacgaggtgcag
atctgcaggtataaagactaccgagagccgccgtggtcggaaaacaagtacgacatctcc
aaggacttctgggccgtcctggcagcccggctggcgtttgtcatcgtcttccagaacctg
gtcatgttcatgagcgactttgtggactgggtcatcccggacatccccaaggacatcagc
cagcagatccacaaggagaaggtgctcatggtggagctgttcatgcgggaggagcaagac
aagcagcagctgctggaaacctggatggagaaggagcggcagaaggacgagccgccgtgc
aaccaccacaacaccaaagcctgcccagacagcctcggcagcccagcccccagccatgcc
taccacgggggcgtcctgtag

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