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

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