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
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
hsa04727  GABAergic synapse
Module
hsa_M00880  Molybdenum cofactor biosynthesis, GTP => molybdenum cofactor
Network
nt06025  Molybdenum cofactor biosynthesis
  Element
N00890  Molybdenum cofactor biosynthesis
N00891  MOCOS deficiency in molybdenum cofactor biosynthesis
N00892  GPHN deficiency in molybdenum cofactor biosynthesis
Disease
H02311  Molybdenum cofactor deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    10243 (GPHN)
 09150 Organismal Systems
  09156 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
Pfam: MoCF_biosynth MoeA_N MoeA_C Tubulin-binding
Motif
Other DBs
NCBI-GeneID: 10243
NCBI-ProteinID: NP_001019389
OMIM: 603930
HGNC: 15465
Ensembl: ENSG00000171723
Vega: OTTHUMG00000029785
Pharos: Q9NQX3(Tbio)
UniProt: Q9NQX3
Structure
PDB: 

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

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