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
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (4)   
   KEGG DRUG (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (14)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (23)   
   RefSeq(nuc) (11)   
   GenBank (6)   
   EMBL (6)   
Protein domain (1)   
   Pfam (1)   
All databases (72)   

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