KEGG   Homo sapiens (human): 6529
Entry
6529              CDS       T01001                                 

Gene name
SLC6A1, GABATHG, GABATR, GAT1, MAE
Definition
(RefSeq) solute carrier family 6 member 1
  KO
K05034  solute carrier family 6 (neurotransmitter transporter, GABA) member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04727  GABAergic synapse
Disease
H02361  Myoclonic-atonic epilepsy
Drug target
Gabapentin (DG01245): D00332<JP/US> D09539<JP/US>
Tiagabine (DG00850): D02097<US> D08588
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    6529 (SLC6A1)
   04721 Synaptic vesicle cycle
    6529 (SLC6A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6529 (SLC6A1)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC6: Sodium- and chloride-dependent neurotransmitter transporter
   6529 (SLC6A1)
SSDB
Motif
Pfam: SNF
Other DBs
NCBI-GeneID: 6529
NCBI-ProteinID: NP_001335179
OMIM: 137165
HGNC: 11042
Ensembl: ENSG00000157103
Vega: OTTHUMG00000044208
Pharos: P30531(Tclin)
UniProt: P30531 A0A024R2K8
LinkDB
Position
3p25.3
AA seq 599 aa
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
ALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI
NT seq 1800 nt   +upstreamnt  +downstreamnt
atggcgaccaacggcagcaaggtggccgacgggcagatctccaccgaggtcagcgaggcc
cctgtggccaatgacaagcccaaaaccttggtggtcaaggtgcagaagaaggcggcagac
ctccccgaccgggacacgtggaagggccgcttcgacttcctcatgtcctgtgtgggctat
gccatcggcctgggcaacgtctggaggttcccctatctctgcgggaaaaatggtggggga
gccttcctgatcccctatttcctgacactcatctttgcgggggtcccactcttcctgctg
gagtgctccctgggccagtacacctccatcggggggctaggggtatggaagctggctcct
atgttcaagggcgtgggccttgcggctgctgtgctatcattctggctgaacatctactac
atcgtcatcatctcctgggccatttactacctgtacaactccttcaccacgacactgccg
tggaaacagtgcgacaacccctggaacacagaccgctgcttctccaactacagcatggtc
aacactaccaacatgaccagcgctgtggtggagttctgggagcgcaacatgcatcagatg
acggacgggctggataagccaggtcagatccgctggccactggccatcacgctggccatc
gcctggatccttgtgtatttctgtatctggaagggtgttggctggactggaaaggtggtc
tacttttcagccacatacccctacatcatgctgatcatcctgttcttccgtggagtgacg
ctgcccggggccaaggagggcatcctcttctacatcacacccaacttccgcaagctgtct
gactccgaggtgtggctggatgcggcaacccagatcttcttctcatacgggctgggcctg
gggtccctgatcgctctcgggagctacaactctttccacaacaatgtctacagggactcc
atcatcgtctgctgcatcaattcgtgcaccagcatgttcgcaggattcgtcatcttctcc
atcgtgggcttcatggcccatgtcaccaagaggtccattgctgatgtggcggcctcaggc
cccgggctggcgttcctggcatacccagaggcggtgacccagctgcctatctccccactc
tgggccatcctcttcttctccatgctgttgatgctgggcattgacagccagttctgcact
gtggagggcttcatcacagccctggtggatgagtaccccaggctcctccgcaaccgcaga
gagctcttcattgctgctgtctgcatcatctcctacctgatcggtctctctaacatcact
caggggggtatttatgtcttcaaactctttgactactactctgccagtggcatgagcctg
ctgttcctcgtgttctttgaatgtgtctctatttcctggttttacggtgtcaaccgattc
tatgacaatatccaagagatggttggatccaggccctgcatctggtggaaactctgctgg
tctttcttcacaccaatcattgtggcgggcgtgttcattttcagtgctgtgcagatgacg
ccactcaccatgggaaactatgttttccccaagtggggccagggtgtgggctggctgatg
gctctgtcttccatggtcctcatccccgggtacatggcctacatgttcctcaccttaaag
ggctccctgaagcagcgcatccaagtcatggtccagcccagcgaagacatcgttcgccca
gagaatggtcctgagcagccccaggcgggcagctccaccagcaaggaggcctacatctag

KEGG   Homo sapiens (human): 6538
Entry
6538              CDS       T01001                                 

Gene name
SLC6A11, GAT-3, GAT3, GAT4
Definition
(RefSeq) solute carrier family 6 member 11
  KO
K05044  solute carrier family 6 (neurotransmitter transporter, GABA) member 11
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04727  GABAergic synapse
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    6538 (SLC6A11)
   04721 Synaptic vesicle cycle
    6538 (SLC6A11)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6538 (SLC6A11)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC6: Sodium- and chloride-dependent neurotransmitter transporter
   6538 (SLC6A11)
SSDB
Motif
Pfam: SNF
Other DBs
NCBI-GeneID: 6538
NCBI-ProteinID: NP_055044
OMIM: 607952
HGNC: 11044
Ensembl: ENSG00000132164
Vega: OTTHUMG00000129718
Pharos: P48066(Tbio)
UniProt: P48066
LinkDB
Position
3p25.3
AA seq 632 aa
MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFV
LSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGIT
CWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATCGHEWNTENC
VEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGIEHIGNLRWELALCLLAAWTICY
FCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPDLSRLSDPQVWV
DAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMA
YEQGVPIAEVAESGPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVT
AVVDMYPKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVA
IFECICIGWVYGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICAGIFIFFLIKYKPLKY
NNIYTYPAWGYGIGWLMALSSMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKL
GVSPRMVTVNDCDAKLKSDGTIAAITEKETHF
NT seq 1899 nt   +upstreamnt  +downstreamnt
atgacggcggagaaggcgctgcccctgggcaatgggaaggctgctgaggaggcgcgggag
tccgaggcgccgggtggcggctgcagcagcgggggcgcggcgcccgcgcgccacccgcgc
gtcaagcgcgacaaggcggtccacgagcgcggccactggaacaacaaggtggagttcgtg
ctgagcgtggccggggagatcattgggctgggcaacgtgtggcgcttcccctacctgtgc
tacaagaacggaggaggggcattcctgattccctacgtggtgttttttatttgctgtgga
attcctgtttttttcctggagacagctctggggcagttcacaagtgaaggtggcattacg
tgttggaggaaagtttgccctttatttgaaggcattggctatgcaacacaggtgattgag
gcccatctgaatgtgtactacatcatcatcctggcatgggccattttttacctgagcaac
tgcttcactactgagctaccctgggctacctgtgggcatgagtggaacacagagaattgt
gtggagttccagaaactgaatgtgagcaactacagccatgtgtctctgcagaatgccacc
tcccctgtcatggagttttgggagcaccgggtcctggccatctctgacgggatcgagcac
atcgggaaccttcgctgggagctggccttgtgtctcttggcagcctggaccatctgttac
ttctgtatctggaaggggaccaagtctacaggaaaggttgtatacgtgactgcgacattc
ccctacatcatgctgctgatcctcctgatacgaggggtcacgttgcccggggcctcagag
ggcatcaagttctacttgtaccctgacctctcccggctctccgacccccaggtctgggta
gatgctggaacgcagatctttttctcctatgccatttgcctgggctgtctgaccgctctg
ggaagttataacaattataacaacaactgctacagggactgcatcatgctctgttgcctg
aacagcggcaccagcttcgtggctgggtttgccatcttctcagtcctgggttttatggcg
tacgagcagggggtacccattgctgaggtggcagagtcaggccccggcctggcctttatt
gcgtaccccaaggcggtcaccatgatgcctctctccccgctgtgggccaccttgttcttc
atgatgctcatcttcctgggcctggacagccagtttgtgtgtgtggaaagcctggtgacc
gccgtggtggacatgtaccccaaggttttccggaggggttaccggcgggagctgctcatc
ctagccttgtctgttatctcctattttctgggcctcgtgatgttaacagagggtggcatg
tacatcttccagctctttgactcctatgccgccagtgggatgtgccttctcttcgtggcc
atctttgagtgcatctgcatcggctgggtgtatggaagcaaccggttctatgataacatt
gaagacatgattggctaccggccaccgtcgctcattaagtggtgctggatgatcatgacc
cctgggatctgcgcggggatcttcatcttcttcttgatcaagtacaagccactcaagtac
aacaacatctacacctacccagcctggggctatggcattggctggctcatggccctgtcc
tccatgctctgcatcccgctctggatctgcatcacagtgtggaagacggaggggacactg
cccgagaaactccagaagttgacgacccccagcacagatctgaaaatgcggggcaagctt
ggggtgagcccacggatggtgacagttaatgactgtgatgccaaactcaagagtgacggg
accatcgcagccatcacagagaaggagacgcacttctga

KEGG   Homo sapiens (human): 6539
Entry
6539              CDS       T01001                                 

Gene name
SLC6A12, BGT-1, BGT1, GAT2
Definition
(RefSeq) solute carrier family 6 member 12
  KO
K05045  solute carrier family 6 (neurotransmitter transporter, betaine/GABA) member 12
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04727  GABAergic synapse
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    6539 (SLC6A12)
   04721 Synaptic vesicle cycle
    6539 (SLC6A12)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6539 (SLC6A12)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC6: Sodium- and chloride-dependent neurotransmitter transporter
   6539 (SLC6A12)
SSDB
Motif
Pfam: SNF
Other DBs
NCBI-GeneID: 6539
NCBI-ProteinID: NP_001116319
OMIM: 603080
HGNC: 11045
Ensembl: ENSG00000111181
Vega: OTTHUMG00000090309
Pharos: P48065(Tchem)
UniProt: P48065
LinkDB
Position
12p13.33
AA seq 614 aa
MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
NT seq 1845 nt   +upstreamnt  +downstreamnt
atggacgggaaggtggcagtgcaagagtgtgggcctcctgcagtctcctgggtccccgag
gagggagagaagttggaccaggaagacgaggaccaggtgaaggatcggggccaatggacc
aacaagatggagtttgtgctgtcagtggccggggagatcattgggctgggcaatgtctgg
aggtttccctatctctgctacaaaaacggaggtggagccttcttcatcccctacttcatc
ttcttctttgtctgcggcatcccggtgttcttcctggaggtggcgttgggccaatacacc
agccaagggagtgtcacagcctggaggaagatctgccccctcttccagggcattggtctg
gcatctgtggtcatcgagtcatatttgaatgtctactacatcatcatccttgcctgggct
ctcttctacctgttcagctccttcacttctgagctgccctggacgacctgcaacaacttt
tggaacacagagcattgcacggactttctgaaccactcaggagccggcacagtgacccca
tttgagaattttacctcacctgtcatggaattctgggagagacgagttctgggcatcacc
tcgggcatccatgacctgggctccctgcgctgggagctggccctgtgcctcctgctcgcc
tgggtcatctgctatttctgcatctggaagggggtcaagtccacaggcaaggtggtttat
ttcacagccacgtttccgtacctgatgcttgtcattttgctgatcagaggtgtcaccctt
cccggagcctaccagggcatcatctactacttgaagccagatttgttccgcctcaaggac
cctcaggtgtggatggatgcgggcacccagatcttcttctcctttgccatctgccagggg
tgcctgacagccctgggcagctacaacaagtatcacaacaactgctacaaggactgcatc
gccctctgcttcctgaacagtgccaccagctttgtggctgggtttgttgtcttctccatc
ctgggcttcatgtcccaagagcaaggggtgcccatttctgaagtggccgagtcaggtcct
gggctggccttcatcgccttccccaaggctgtgactatgatgcccttatcccagctgtgg
tcctgcctgttctttatcatgctcatattcctagggctggacagccagtttgtctgtgtg
gagtgcctggtgacagcctccatagacatgttccccaggcagctccggaagagcgggcgg
cgcgagctcctcatcctcaccatcgccgtcatgtgctacctgatagggcttttcctggtc
accgagggcgggatgtacatcttccagctgtttgactactatgcttccagtggcatatgc
ctgctgttcctgtcattgtttgaagtggtctgcataagctgggtgtatggggcggaccgt
ttctatgacaacattgaggacatgattggctaccggccatggcccctggtgaagatctcc
tggctcttcctgacccctggactttgcctggccactttcctcttctccttgagcaagtac
acccccctcaagtacaacaacgtctatgtgtacccgccctggggatactccattggctgg
ttcctggctctgtcctccatggtctgtgtcccactcttcgtcgtcatcaccctcctgaag
actcggggtcctttcaggaagcgtctgcgtcagctcatcacccctgactccagtctgcca
cagcccaagcaacatccctgcttggatggcagtgctggccggaactttgggccctcccca
acaagggaaggactgatagccggggagaaggagacccatttgtag

KEGG   Homo sapiens (human): 6540
Entry
6540              CDS       T01001                                 

Gene name
SLC6A13, GAT-2, GAT2, GAT3
Definition
(RefSeq) solute carrier family 6 member 13
  KO
K05046  solute carrier family 6 (neurotransmitter transporter, GABA) member 13
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04727  GABAergic synapse
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    6540 (SLC6A13)
   04721 Synaptic vesicle cycle
    6540 (SLC6A13)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6540 (SLC6A13)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC6: Sodium- and chloride-dependent neurotransmitter transporter
   6540 (SLC6A13)
SSDB
Motif
Pfam: SNF
Other DBs
NCBI-GeneID: 6540
NCBI-ProteinID: NP_057699
OMIM: 615097
HGNC: 11046
Ensembl: ENSG00000010379
Vega: OTTHUMG00000168053
Pharos: Q9NSD5(Tbio)
UniProt: Q9NSD5
LinkDB
Position
12p13.33
AA seq 602 aa
MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPY
LCYKNGGGAFFIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQM
IVILLNVYYIIVLAWALFYLFSSFTIDLPWGGCYHEWNTEHCMEFQKTNGSLNGTSENAT
SPVIEFWERRVLKISDGIQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATF
PYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTAL
GSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFI
AYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRKKNRREVLI
LGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNI
EDMIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALS
SMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELES
HC
NT seq 1809 nt   +upstreamnt  +downstreamnt
atggatagcagggtctcaggcacaaccagtaatggagagacaaaaccagtgtatccagtc
atggaaaagaaggaggaagatggcaccctggagcgggggcactggaacaacaagatggag
tttgtgctgtcagtggctggggagatcattggcttaggcaacgtctggaggtttccctat
ctctgctacaaaaatgggggaggtgccttcttcatcccctacctcgtcttcctctttacc
tgtggcattcctgtcttccttctggagacagcactaggccagtacactagccagggaggc
gtcacagcctggaggaagatctgccccatctttgagggcattggctatgcctcccagatg
atcgtcatcctcctcaacgtctactacatcattgtgttggcctgggccctgttctacctc
ttcagcagcttcaccatcgacctgccctggggcggctgctaccatgagtggaacacagaa
cactgtatggagttccagaagaccaacggctccctgaatggtacctctgagaatgccacc
tctcctgtcatcgagttctgggagcggcgggtcttgaagatctctgatgggatccagcac
ctgggggccctgcgctgggagctggctctgtgcctcctgctggcctgggtcatctgctac
ttctgcatctggaagggggtgaagtccacaggcaaggtggtgtacttcacggccacattt
ccttacctcatgctggtggtcctgttaattcgaggggtgacgttgcctggggcagcccaa
ggaattcagttttacctgtacccaaacctcacgcgtctgtgggatccccaggtgtggatg
gatgcaggcacccagatattcttctccttcgccatctgtcttgggtgcctgacagccctg
ggcagctacaacaagtaccacaacaactgctacagggactgcatcgccctctgcttcctc
aacagcggcaccagctttgtggccggctttgccatcttctccatcctgggcttcatgtct
caggagcagggggtgcccatttctgaggtggccgagtcaggccctggcctggctttcatc
gcttacccgcgggctgtggtgatgctgcccttctctcctctctgggcctgctgtttcttc
ttcatggtcgttctcctgggactggatagccagtttgtgtgtgtagaaagcctggtgaca
gcgctggtggacatgtaccctcacgtgttccgcaagaagaaccggagggaagtcctcatc
cttggagtatctgtcgtctccttccttgtggggctgatcatgctcacagagggcggaatg
tacgtgttccagctctttgactactatgcggccagtggcatgtgcctcctgttcgtggcc
atcttcgagtccctctgtgtggcttgggtttacggagccaagcgcttctacgacaacatc
gaagacatgattgggtacaggccatggcctcttatcaaatactgttggctcttcctcaca
ccagctgtgtgcacagccacctttctcttctccctgataaagtacactccgctgacctac
aacaagaagtacacgtacccgtggtggggcgatgccctgggctggctcctggctctgtcc
tccatggtctgcattcctgcctggagcctctacagactcggaaccctcaagggccccttc
agagagagaatccgtcagctcatgtgcccagccgaggacctgccccagcggaacccagca
ggaccctcggctcccgccacccccaggacctcactgctcagactcacagagctagagtct
cactgctag

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