KEGG   Homo sapiens (human): 2741
Entry
2741              CDS       T01001                                 
Symbol
GLRA1, HKPX1, STHE
Name
(RefSeq) glycine receptor alpha 1
  KO
K05193  glycine receptor alpha-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04082  Neuroactive ligand signaling
Network
nt06544  Neuroactive ligand signaling
  Element
N01907  Transport of chloride, GLR
Disease
H00769  Hyperekplexia
Drug target
Strychnine nitrate: D10470
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2741 (GLRA1)
   04082 Neuroactive ligand signaling
    2741 (GLRA1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2741 (GLRA1)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2741 (GLRA1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Acrosomal exocytosis proteins
    2741 (GLRA1)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glycine
   2741 (GLRA1)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb
Other DBs
NCBI-GeneID: 2741
NCBI-ProteinID: NP_001139512
OMIM: 138491
HGNC: 4326
Ensembl: ENSG00000145888
UniProt: P23415
Structure
Position
5:complement(151822513..151924851)
AA seq 457 aa
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNF
KGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDS
IWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTC
IMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA
SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLF
QEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ
NT seq 1374 nt   +upstreamnt  +downstreamnt
atgtacagcttcaatactcttcgactctacctttgggagaccattgtattcttcagcctt
gctgcttctaaggaggctgaagctgctcgctccgcacccaagcctatgtcaccctcggat
ttcctggataagctaatggggagaacctccggatatgatgccaggatcaggcccaatttt
aaaggtcccccagtgaacgtgagctgcaacattttcatcaacagctttggttccattgct
gagacaaccatggactatagggtcaacatcttcctgcggcagcaatggaacgacccccgc
ctggcctataatgaataccctgacgactctctggacctggacccatccatgctggactcc
atctggaaacctgacctgttctttgccaacgagaagggggcccacttccatgagatcacc
acagacaacaaattgctaaggatctcccggaatgggaatgtcctctacagcatcagaatc
accctgacactggcctgccccatggacttgaagaatttccccatggatgtccagacatgt
atcatgcaactggaaagctttggatatacgatgaatgacctcatctttgagtggcaggaa
cagggagccgtgcaggtagcagatggactaactctgccccagtttatcttgaaggaagag
aaggacttgagatactgcaccaagcactacaacacaggtaaattcacctgcattgaggcc
cggttccacctggagcggcagatgggttactacctgattcagatgtatattcccagcctg
ctcattgtcatcctctcatggatctccttctggatcaacatggatgctgcacctgctcgt
gtgggcctaggcatcaccactgtgctcaccatgaccacccagagctccggctctcgagca
tctctgcccaaggtgtcctatgtgaaagccattgacatttggatggcagtttgcctgctc
tttgtgttctcagccctattagaatatgctgccgttaactttgtgtctcggcaacataag
gagctgctccgattcaggaggaagcggagacatcacaagagccccatgttgaatctattc
caggaggatgaagctggagaaggccgctttaacttctctgcctatgggatgggcccagcc
tgtctacaggccaaggatggcatctcagtcaagggcgccaacaacagtaacaccaccaac
ccccctcctgcaccatctaagtccccagaggagatgcgaaaactcttcatccagagggcc
aagaagatcgacaaaatatcccgcattggcttccccatggccttcctcattttcaacatg
ttctactggatcatctacaagattgtccgtagagaggacgtccacaaccagtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (17)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (21)   
   RefSeq(nuc) (5)   
   GenBank (8)   
   EMBL (8)   
3D Structure (9)   
   PDB (9)   
Protein domain (2)   
   Pfam (2)   
All databases (58)   

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KEGG   Homo sapiens (human): 2742
Entry
2742              CDS       T01001                                 
Symbol
GLRA2, GLR, MRXSP
Name
(RefSeq) glycine receptor alpha 2
  KO
K05194  glycine receptor alpha-2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
Disease
H00658  X-linked syndromic intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2742 (GLRA2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2742 (GLRA2)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glycine
   2742 (GLRA2)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb
Other DBs
NCBI-GeneID: 2742
NCBI-ProteinID: NP_001112357
OMIM: 305990
HGNC: 4327
Ensembl: ENSG00000101958
UniProt: P23416
Structure
Position
X:14448779..14731812
AA seq 452 aa
MNRQLVNILTALFAFFLETNHFRTAFCKDHDSRSGKQPSQTLSPSDFLDKLMGRTSGYDA
RIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQWNDSRLAYSEYPDDSLDLD
PSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKVLYSIRLTLTLSCPMDLKNFP
MDVQTCTMQLESFGYTMNDLIFEWLSDGPVQVAEGLTLPQFILKEEKELGYCTKHYNTGK
FTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQ
SSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLEYAAVNFVSRQHKEFLRLRRRQKRQNK
EEDVTRESRFNFSGYGMGHCLQVKDGTAVKATPANPLPQPPKDGDAIKKKFVDRAKRIDT
ISRAAFPLAFLIFNIFYWITYKIIRHEDVHKK
NT seq 1359 nt   +upstreamnt  +downstreamnt
atgaaccggcagctagtgaacattttgacagccttgtttgcatttttcttagagacaaac
cacttcaggacggctttctgcaaagaccatgactccaggtctggaaaacaaccttcacag
accctatctccttcagatttcttggacaagttaatgggaaggacatcaggatatgatgca
agaatcaggccaaattttaaaggtcctccagtaaacgttacttgcaatatttttatcaac
agttttggatcagtcacagaaacgaccatggactaccgagtgaatatttttctgagacaa
cagtggaatgattcacggctggcgtacagtgagtacccagatgactccctggacttggac
ccatccatgctagactccatttggaaaccagatttgttctttgccaatgagaagggtgcc
aacttccacgatgtcaccactgacaacaaattgctacggatttcgaaaaatggcaaagtg
ctctacagtatcagactcaccttgaccttatcctgtcccatggacttgaagaactttccg
atggatgtccagacctgtacaatgcagctggagagttttgggtacacgatgaatgacctg
atatttgagtggttaagtgatggtccagtgcaagttgctgaaggattgaccctgccccag
tttattttgaaagaagagaaggaacttggctactgtacaaagcactacaacactggaaag
tttacctgcattgaggtcaagtttcatctggaacgccaaatgggatattatttgatccag
atgtacatcccaagcctgcttatagtaattttgtcctgggtttccttttggataaatatg
gatgcagcccctgccagggtcgcactgggcatcaccacagtcttaacgatgaccacccag
agttcaggctccagggcatctctgccaaaggtctcctatgtaaaagcgattgacatctgg
atggcggtgtgccttctgtttgtgtttgctgccttactggaatacgcagcggtgaacttc
gtctccaggcaacacaaggagttcctgcgcctccgaagaagacagaagaggcagaataag
gaagaagacgttactcgtgaaagtcgttttaattttagcggttatgggatgggtcactgc
ctccaagtgaaagatggaacagctgtcaaggccacacctgccaacccactcccacaaccg
ccaaaagatggagatgctatcaagaagaagtttgtggaccgggcaaaaaggattgacacg
atatctcgagctgccttcccattggccttcctcattttcaacatcttttactggatcaca
tacaagatcattcggcatgaagatgtccacaagaaatag

  All links  
Disease (2)   
   OMIM (2)   
Gene (25)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (36)   
   RefSeq(nuc) (12)   
   GenBank (12)   
   EMBL (12)   
3D Structure (4)   
   PDB (4)   
Protein domain (2)   
   Pfam (2)   
All databases (83)   

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KEGG   Homo sapiens (human): 2743
Entry
2743              CDS       T01001                                 
Symbol
GLRB, HKPX2
Name
(RefSeq) glycine receptor beta
  KO
K05196  glycine receptor beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04082  Neuroactive ligand signaling
Network
nt06544  Neuroactive ligand signaling
  Element
N01907  Transport of chloride, GLR
Disease
H00769  Hyperekplexia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2743 (GLRB)
   04082 Neuroactive ligand signaling
    2743 (GLRB)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2743 (GLRB)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2743 (GLRB)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Acrosomal exocytosis proteins
    2743 (GLRB)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glycine
   2743 (GLRB)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb
Other DBs
NCBI-GeneID: 2743
NCBI-ProteinID: NP_000815
OMIM: 138492
HGNC: 4329
Ensembl: ENSG00000109738
UniProt: P48167
Structure
Position
4:157076150..157172090
AA seq 497 aa
MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNIL
NRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPS
DFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSIT
LSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQLEKIALPQFDIKKEDIEY
GNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIVVLSWLSFWINPDASAARVP
LGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVVQVMLNNPKRV
EAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDF
SIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARAL
FPFCFLFFNVIYWSIYL
NT seq 1494 nt   +upstreamnt  +downstreamnt
atgaagtttttattgacaactgcctttttaattttaatttccttgtgggtggaagaagcc
tattctaaggaaaagtcttcaaagaaagggaaggggaaaaagaagcagtatctatgccca
tctcagcagtcagcagaggaccttgcccgagtacctgccaactccactagcaatatcttg
aacaggttattggtcagttatgatcccaggataagaccaaacttcaaaggcattcctgtt
gatgtagtagtcaacatttttattaacagttttggatccattcaagaaacaacaatggac
tatagagttaacatcttcctgagacaaaaatggaatgaccccaggctgaagctccccagt
gattttaggggttcagatgcactgacagtggatccaacaatgtacaagtgtttatggaaa
cctgatttattttttgcaaatgaaaaaagtgccaattttcatgatgtgacccaggaaaac
atcctcctctttatttttcgtgatggagatgtccttgtcagcatgaggttatctattact
ctttcatgccctttggacttgacattgtttcccatggatacacaacgttgcaagatgcaa
ctggagagctttggttacacaactgatgatttacgatttatctggcagtcaggagatcct
gtgcaattagaaaaaattgccttgcctcaatttgatatcaaaaaggaagatattgaatat
ggtaactgtacaaaatactataaaggcacgggctactacacatgcgtggaagtcatcttc
accctgaggaggcaggtcggcttttacatgatgggggtctacgccccaactctgctcatt
gttgttctctcctggctttccttctggatcaacccggacgcgagtgctgccagagtgccc
ctgggtatcttctcagtcctcagcttggcctctgagtgcacaacccttgccgctgagctt
cccaaagtttcctatgtgaaggctcttgatgtttggcttattgcttgccttctctttggg
tttgcttccctggtggagtatgcagttgtccaggtgatgctgaacaaccccaaaagggtt
gaagctgaaaaagccagaattgctaaggctgagcaagcagatggaaaaggtggaaatgtg
gctaaaaagaatactgtgaatggaacagggactcctgttcatattagcactttgcaggtt
ggtgagaccagatgcaaaaaagtttgtacttctaagtctgatctgagatctaatgacttc
agcattgttggaagcttaccaagagattttgaactatccaattatgactgctatggaaaa
cccattgaagttaacaacggacttgggaaatctcaggctaagaacaacaagaagcctccc
cctgcgaaacctgttattccaacagcagcaaagcgaattgatctttatgcaagagcattg
tttcctttctgcttcttgttcttcaatgttatatattggtctatatatttatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (22)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (32)   
   RefSeq(nuc) (10)   
   GenBank (11)   
   EMBL (11)   
3D Structure (8)   
   PDB (8)   
Protein domain (2)   
   Pfam (2)   
All databases (78)   

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KEGG   Homo sapiens (human): 8001
Entry
8001              CDS       T01001                                 
Symbol
GLRA3
Name
(RefSeq) glycine receptor alpha 3
  KO
K05195  glycine receptor alpha-3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04082  Neuroactive ligand signaling
Network
nt06544  Neuroactive ligand signaling
  Element
N01907  Transport of chloride, GLR
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    8001 (GLRA3)
   04082 Neuroactive ligand signaling
    8001 (GLRA3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8001 (GLRA3)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glycine
   8001 (GLRA3)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb
Other DBs
NCBI-GeneID: 8001
NCBI-ProteinID: NP_006520
OMIM: 600421
HGNC: 4328
Ensembl: ENSG00000145451
UniProt: O75311 Q9UPF3
Structure
Position
4:complement(174636920..174829247)
AA seq 464 aa
MAHVRHFRTLVSGFYFWEAALLLSLVATKETDSARSRSAPMSPSDFLDKLMGRTSGYDAR
IRPNFKGPPVNVTCNIFINSFGSIAETTMDYRVNIFLRQKWNDPRLAYSEYPDDSLDLDP
SMLDSIWKPDLFFANEKGANFHEVTTDNKLLRIFKNGNVLYSIRLTLTLSCPMDLKNFPM
DVQTCIMQLESFGYTMNDLIFEWQDEAPVQVAEGLTLPQFLLKEEKDLRYCTKHYNTGKF
TCIEVRFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQS
SGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRKNKTEA
FALEKFYRFSDMDDEVRESRFSFTAYGMGPCLQAKDGMTPKGPNHPVQVMPKSPDEMRKV
FIDRAKKIDTISRACFPLAFLIFNIFYWVIYKILRHEDIHQQQD
NT seq 1395 nt   +upstreamnt  +downstreamnt
atggcccacgtgagacactttcggacattagtttcgggattttacttctgggaagcagca
ctgttactcagtttggttgccacaaaggaaacagacagtgcaagatctcgaagtgctcca
atgtcaccttctgattttctggataaattaatgggcaggacatcaggatatgatgcaaga
atcagacccaattttaaaggccctccagttaatgtcacatgcaacatattcatcaacagc
tttggctctatcgcagagacgaccatggattacagagtgaatatctttcttcgtcagaaa
tggaatgatccccgcctcgcgtacagtgaatatcctgacgactctttagacctcgacccc
tccatgttggactccatttggaaacctgatttgttctttgccaatgaaaagggtgccaac
tttcatgaagtcactacagacaacaaattgctaagaattttcaaaaatggaaatgttctt
tattcaataagattaacattaacactttcctgtccaatggatctcaagaattttcccatg
gatgtacaaacatgtataatgcaactggaaagctttgggtacacaatgaatgatctcatt
tttgaatggcaagatgaggcacccgtacaagtggcagaaggactcactttgccccagttt
ctgttgaaagaagaaaaagatttacgatactgcactaaacattacaatacaggaaagttt
acgtgtatagaagtgcgattccatctggagcgacaaatgggatactatctgatccagatg
tacattcccagtctcctgattgttattctatcctgggtttcattctggatcaacatggat
gcagcaccggccagggtagctctggggataaccactgtgctaacgatgactacacagagt
tcaggatcacgagcttccttgccaaaagtttcatatgtcaaagctattgatatttggatg
gcagtatgcctcctttttgtgttttcagcacttctggagtatgcagctgtaaattttgta
tcaagacaacacaaagaacttctgagatttcgacgaaagagaaagaataagacagaagct
tttgcactggagaagttttaccgtttctcagatatggatgatgaggtaagggaaagccga
ttcagcttcacagcctatggaatgggaccatgtctacaagcaaaggatggcatgactcca
aagggccccaaccaccctgtccaggtaatgccaaaaagtcctgatgaaatgaggaaggtc
tttatcgaccgggccaagaagattgataccatctcccgagcctgcttcccattagctttt
ttgatttttaatattttctactgggttatctataaaattcttaggcatgaggatattcat
cagcagcaagattaa

  All links  
Disease (1)   
   OMIM (1)   
Gene (11)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (17)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (28)   
   RefSeq(nuc) (16)   
   GenBank (6)   
   EMBL (6)   
3D Structure (15)   
   PDB (15)   
Protein domain (2)   
   Pfam (2)   
All databases (74)   

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