Homo sapiens (human): 6529
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Entry
6529 CDS
T01001
Symbol
SLC6A1, GABATHG, GABATR, GAT1, MAE, hGAT-1
Name
(RefSeq) solute carrier family 6 member 1
KO
K05034
solute carrier family 6 (neurotransmitter transporter, GABA) member 1
Organism
hsa
Homo sapiens (human)
Pathway
hsa04082
Neuroactive ligand signaling
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
]
09130 Environmental Information Processing
09133 Signaling molecules and interaction
04082 Neuroactive ligand signaling
6529 (SLC6A1)
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)
BRITE hierarchy
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Gene cluster
GFIT
Motif
Pfam:
SNF
Motif
Other DBs
NCBI-GeneID:
6529
NCBI-ProteinID:
NP_001335179
OMIM:
137165
HGNC:
11042
Ensembl:
ENSG00000157103
UniProt:
P30531
Structure
PDB
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Position
3:10992748..11039247
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AA seq
599 aa
AA seq
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MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
ALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI
NT seq
1800 nt
NT seq
+upstream
nt +downstream
nt
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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