KEGG   Homo sapiens (human): 10243Help
Entry
10243             CDS       T01001                                 

Gene name
GPHN, GEPH, GPH, GPHRYN, HKPX1, MOCODC
Definition
(RefSeq) gephyrin
  KO
K15376  
gephyrin [EC:2.10.1.1 2.7.7.75]
Organism
hsa  Homo sapiens (human)
Pathway
Folate biosynthesis
Metabolic pathways
GABAergic synapse
Disease
H00192  
Xanthinuria
H00769  
Hyperekplexia
Brite
KEGG Orthology (KO) [BR:hsa00001]
  Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    10243 (GPHN)
 Organismal Systems
  Nervous system
   04727 GABAergic synapse
    10243 (GPHN)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.75  molybdopterin adenylyltransferase
     10243 (GPHN)
  2.10  Transferring molybdenum- or tungsten-containing groups
   2.10.1  Molybdenumtransferases or tungstentransferases with sulfide groups as acceptors
    2.10.1.1  molybdopterin molybdotransferase
     10243 (GPHN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9NQX3(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
14q23.3-q24.1
AA seq 736 aa AA seqDB search
MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVP
DEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSL
NVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVH
DELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAI
AAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL
RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVY
AKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG
ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPS
EIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYP
TINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF
MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKAR
LSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYV
ELHKGEVVDVMVIGRL
NT seq 2211 nt NT seq  +upstreamnt  +downstreamnt
atggcgaccgagggaatgatccttactaaccacgaccatcaaatccgtgtcggagtcctt
acagtgagtgatagttgcttcaggaatcttgcagaagaccgcagtgggataaatctcaaa
gatctcgtacaagatccttctttgttgggtgggactatatcagcatacaagatagtacca
gatgaaatagaagaaatcaaggaaaccctgatagattggtgtgatgaaaaggaacttaat
ttgatattaacaactggaggaacaggatttgcaccacgagatgtcactccagaggccaca
aaagaagtaatagaacgggaagcaccagggatggccctggcaatgctgatgggatcactt
aatgttacacctctgggcatgctctctaggcctgtatgtggaatcagagggaaaacgctc
ataattaacctgccaggtagcaagaaaggatctcaggaatgctttcaattcatactgcca
gctctacctcatgccattgaccttttacgtgatgccattgtaaaagtaaaggaggtgcat
gatgaacttgaagatttgccttccccacctccccctctttcccctcctcctactaccagc
ccccataaacagacagaagacaaaggagttcaatgtgaggaagaggaagaagagaagaaa
gacagtggtgttgcttcaacagaagatagttcctcatcacatataactgcagcagccatt
gctgccaagattccagactccatcatttctcgtggtgttcaggtgctcccacgagacaca
gcctccctcagcactactccttcagaatcgcctcgtgctcaggctacatctcgcctctct
acagcttcctgcccaacaccaaaagtccagtccaggtgcagcagcaaggagaacattctc
agagccagtcacagtgctgtcgatatcaccaaggtggctagaagacatcgcatgtctcct
tttcctctgacatctatggacaaagcctttatcacagtcctggagatgactccggtgctt
gggacagaaatcatcaattaccgagatggaatggggcgagtccttgctcaagatgtatat
gcaaaagacaatttaccccccttcccagcatcagtaaaagatggctatgctgtccgagct
gctgatggcccaggagatcgtttcatcattggggaatcccaagctggtgaacagccaact
cagacagtaatgccaggacaagtcatgcgggttacaacaggtgctccaataccctgcggt
gctgatgcagtagtacaagtggaagataccgaacttatcagggaatcagatgatggcact
gaagaacttgaagtgcgaattctggtgcaagctcggccaggccaagatatcagacccatc
ggccatgacattaaaagaggggaatgtgttttggccaaaggaacccacatgggcccctca
gagattggtcttctggcaactgtaggtgtcacagaggttgaagttaataagtttccagtg
gttgcagtcatgtcaacagggaatgagctgctaaatcctgaagatgacctcttaccaggg
aagattcgagacagcaatcgttcaactcttctagcaacaattcaggaacatggttacccc
acgatcaacttgggtattgtaggagacaacccagatgacttactcaatgccttgaatgag
ggtatcagtcgtgctgatgtcatcatcacatcagggggtgtatccatgggggaaaaggac
tatctcaagcaggtgctggacattgatcttcatgctcagatccattttggcagggttttt
atgaaaccaggcttgccaacaacatttgcaactttggatattgatggtgtaagaaaaata
atctttgcactacctgggaatcctgtatcggctgtggtcacctgcaatctctttgttgtg
cctgcactgaggaaaatgcagggcatcttggatcctcggccaaccatcatcaaagcaagg
ttatcatgtgatgtaaaacttgatcctcgtccagaataccatcggtgtatactaacttgg
catcaccaagaaccactaccttgggcacagagtacaggtaatcaaatgagcagccgtctg
atgagcatgcgcagtgccaatggattgttgatgctacctccaaagacagaacagtacgtg
gagctccacaaaggcgaggtggtggatgtcatggtcattggacggctatga

DBGET integrated database retrieval system