Homo sapiens (human): 6505 Help Entry 6505              CDS       T01001                                  Symbol SLC1A1, DCBXA, EAAC1, EAAT3, SCZD18 Name (RefSeq) solute carrier family 1 member 1   KO K05612   solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter), member 1 Organism hsa  Homo sapiens (human) Pathway hsa04721   Synaptic vesicle cycle hsa04724   Glutamatergic synapse hsa04974   Protein digestion and absorption Disease H00911   Dicarboxylic aminoaciduria H01450   Obsessive-compulsive disorder H01649   Schizophrenia Brite KEGG Orthology (KO) [BR:hsa00001]  09150 Organismal Systems   09154 Digestive system    04974 Protein digestion and absorption     6505 (SLC1A1)   09156 Nervous system    04724 Glutamatergic synapse     6505 (SLC1A1)    04721 Synaptic vesicle cycle     6505 (SLC1A1)  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    02000 Transporters [BR:hsa02000]     6505 (SLC1A1) Transporters [BR:hsa02000]  Solute carrier family (SLC)   SLC1: High-affinity glutamate and neutral amino acid transporter    6505 (SLC1A1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  SDF Motif Other DBs NCBI-GeneID:  6505 NCBI-ProteinID:  NP_004161 OMIM:  133550 HGNC:  10939 Ensembl:  ENSG00000106688 Vega:  OTTHUMG00000019468 Pharos:  P43005(Tchem) UniProt:  P43005 Structure PDB LinkDB All DBs Position 9:4490468..4587469 Genome browser AA seq 524 aa AA seqDB search MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILM RMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGV TQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMT EESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFF NALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMATVLTGLAIHSIVI LPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLP VGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMV IVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVN IVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF NT seq 1575 nt NT seq  +upstreamnt  +downstreamnt atggggaaaccggcgaggaaaggatgcgagtggaagcgcttcctgaagaataactgggtg ttgctgtccaccgtggccgcggtggtgctaggcattaccacaggagtcttggttcgagaa cacagcaacctctcaactctagagaaattctactttgcttttcctggagaaattctaatg cggatgctgaaactcatcattttgccattaattatatccagcatgattacaggtgttgct gcactggattccaacgtatccggaaaaattggtctgcgcgctgtcgtgtattatttctgt accactctcattgctgttattctaggtattgtgctggtggtgagcatcaagcctggtgtc acccagaaagtgggtgaaattgcgaggacaggcagcacccctgaagtcagtacggtggat gccatgttagatctcatcaggaatatgttccctgagaatcttgtccaggcctgttttcag cagtacaaaactaagcgtgaagaagtgaagcctcccagcgatccagagatgaacatgaca gaagagtccttcacagctgtcatgacaactgcaatttccaagaacaaaacaaaggaatac aaaattgttggcatgtattcagatggcataaacgtcctgggcttgattgtcttttgcctt gtctttggacttgtcattggaaaaatgggagaaaagggacaaattctggtggatttcttc aatgctttgagtgatgcaaccatgaaaatcgttcagatcatcatgtgttatatgccacta ggtattttgttcctgattgctgggaagatcatagaagttgaagactgggaaatattccgc aagctgggcctttacatggccacagtcctgactgggcttgcaatccactccattgtaatt ctcccgctgatatatttcatagtcgtacgaaagaaccctttccgatttgccatgggaatg gcccaggctctcctgacagctctcatgatctcttccagttcagcaacactgcctgtcacc ttccgctgtgctgaagaaaataaccaggtggacaagaggatcactcgattcgtgttaccc gttggtgcaacaatcaacatggatgggactgcgctctatgaagcagtggcagcggtgttt attgcacagttgaatgacctggacttgggcattgggcagatcatcaccatcagtatcacg gccacatctgccagcatcggagctgctggcgtgccccaggctggcctggtgaccatggtg attgtgctgagtgccgtgggcctgcccgccgaggatgtcaccctgatcattgctgtcgac tggctcctggaccggttcaggaccatggtcaacgtccttggtgatgcttttgggacgggc attgtggaaaagctctccaagaaggagctggagcagatggatgtttcatctgaagtcaac attgtgaatccctttgccttggaatccacaatccttgacaacgaagactcagacaccaag aagtcttatgtcaatggaggctttgcagtagacaagtctgacaccatctcattcacccag acctcacagttctag

Homo sapiens (human): 6511 Help Entry 6511              CDS       T01001                                  Symbol SLC1A6, EAAT4 Name (RefSeq) solute carrier family 1 member 6   KO K05617   solute carrier family 1 (high affinity glutamate/aspartate transporter), member 6 Organism hsa  Homo sapiens (human) Pathway hsa04721   Synaptic vesicle cycle hsa04724   Glutamatergic synapse hsa05017   Spinocerebellar ataxia Network nt06440  Transcription nt06462  Spinocerebellar ataxia   Element N00965   RORA-mediated transcription N00966   Mutation-caused aberrant ATXN1 to RORA-mediated transcription Brite KEGG Orthology (KO) [BR:hsa00001]  09150 Organismal Systems   09156 Nervous system    04724 Glutamatergic synapse     6511 (SLC1A6)    04721 Synaptic vesicle cycle     6511 (SLC1A6)  09160 Human Diseases   09164 Neurodegenerative disease    05017 Spinocerebellar ataxia     6511 (SLC1A6)  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    02000 Transporters [BR:hsa02000]     6511 (SLC1A6) Transporters [BR:hsa02000]  Solute carrier family (SLC)   SLC1: High-affinity glutamate and neutral amino acid transporter    6511 (SLC1A6) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  SDF Motif Other DBs NCBI-GeneID:  6511 NCBI-ProteinID:  NP_005062 OMIM:  600637 HGNC:  10944 Ensembl:  ENSG00000105143 Vega:  OTTHUMG00000183351 Pharos:  P48664(Tchem) UniProt:  P48664 B7Z7Q5 LinkDB All DBs Position 19:complement(14950033..15010643) Genome browser AA seq 564 aa AA seqDB search MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG KPYKSLMAQEKGASRGRGGNESAM NT seq 1695 nt NT seq  +upstreamnt  +downstreamnt atgagcagccatggcaacagcctgttcctgcgggagagcggccagcggctgggccgggtg ggctggctgcagcggctgcaggaaagcctgcagcagagagcactgcgcacgcgcctgcgc ctgcagaccatgaccctcgagcacgtgctgcgcttcctgcgccgaaacgccttcattctg ctgacggtcagcgccgtggtcattggggtcagcctggcctttgccctgcgcccatatcag ctcacctaccgccagatcaagtacttctcttttcctggagagcttctgatgaggatgctg cagatgctggtgttacctctcattgtctccagcctggtcacaggtatggcatccctggac aacaaggccacggggcggatggggatgcgggcagctgtgtactacatggtgaccaccatc atcgcggtcttcatcggcatcctcatggtcaccatcatccatcccgggaagggctccaag gaggggctgcaccgggagggccggatcgagaccatccccacagctgatgccttcatggac ctgatcagaaatatgtttccaccaaaccttgtggaggcctgcttcaaacagttcaagacg cagtacagcacgagggtggtaaccaggaccatggtgaggacagagaacgggtctgagccg ggtgcctccatgcctcctccattctcagtggagaacggaaccagcttcctggaaaatgtc actcgggccttgggtaccctgcaggagatgctgagctttgaggagactgtacccgtgcct ggctccgccaatggcatcaacgccctgggcctcgtggtcttctctgtggcctttgggctg gtcattggtggcatgaaacacaagggcagagtcctcagggacttcttcgacagcctcaat gaggctattatgaggctggtgggcatcattatctggtatgcacctgtgggcatcctgttc ctgattgctgggaagattctggagatggaagacatggccgtcctggggggtcagctgggc atgtacaccctgaccgtcatcgtgggcctgttcctccatgccggcattgtccttcccctc atctacttcctcgtcactcaccggaaccccttccccttcattgggggcatgctacaagcc ctcatcaccgctatgggcacgtcttccagctcggcaacgctgcccatcaccttccgctgc ctggaggagggcctgggtgtggaccgccgcatcaccaggttcgtcctgcccgtgggcgcc acggtcaacatggatggcactgccctctacgaggccctggctgccatcttcattgctcaa gttaacaactacgagctcaacctgggtcagatcacaaccatcagcatcacggccacagca gccagtgttggggctgctggcatcccccaggcgggtctggtcaccatggtcattgtgctt acgtcggtcggcttgcccacggaagacatcacgctcatcattgccgtggactggttcctt gaccggcttcgcacaatgaccaacgtactgggggactcaattggagcggccgtcatcgag cacttgtctcagcgggagctggagcttcaggaagctgagcttaccctccccagcctgggg aaaccctacaagtccctcatggcacaggagaagggggcatcccggggacggggaggcaac gagagtgctatgtga

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