GCH1, GTP cyclohydrolase 1

GCH1, GTP cyclohydrolase 1

• This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

• Gene Synonyms (DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GTP cyclohydrolase 1, GTP cyclohydrolase I, GTP-CH-I, dystonia 14, guanosine 5'-triphosphate cyclohydrolase I,)
• NCBI Gene ID: 2643
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8IZH9
  UNIPROT ID#>>P30793
  UNIPROT ID#>>A0A024R642
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

GTP cyclohydrolase 1 interacts with:

• activator of HSP90 ATPase activity 1
  armadillo repeat containing 8
  calcium/calmodulin dependent protein kinase kinase 1
  calmodulin like 5
  calmodulin like 6
  cannabinoid receptor interacting protein 1
  casein kinase 1 gamma 1
  cell division cycle 37, HSP90 cochaperone
  elongin B
  GID complex subunit 4 homolog
  GID complex subunit 8 homolog
  GIT ArfGAP 2
  GTP cyclohydrolase 1
  GTP cyclohydrolase I feedback regulator
  heat shock protein family A (Hsp70) member 8
  macrophage erythroblast attacher, E3 ubiquitin ligase
  MID1 interacting protein 1
  mitogen-activated protein kinase 10
  mitogen-activated protein kinase 12
  mitogen-activated protein kinase kinase 4
  mitogen-activated protein kinase kinase 5
  oxysterol binding protein like 9
  procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
  protein kinase C and casein kinase substrate in neurons 3
  protein kinase cAMP-dependent type II regulatory subunit alpha
  protein kinase cAMP-dependent type II regulatory subunit beta
  protein phosphatase, Mg2+/Mn2+ dependent 1B
  RAB26, member RAS oncogene family
  rabphilin 3A
  RAN binding protein 10
  RAN binding protein 9
  regulator of G protein signaling 19
  required for meiotic nuclear division 5 homolog A
  ribonucleotide reductase catalytic subunit M1
  RLF zinc finger
  secreted and transmembrane 1
  sequestosome 1
  SH3 domain containing GRB2 like 2, endophilin A1
  sorting nexin 9
  Sp3 transcription factor
  transportin 2
  transportin 3
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
  ubiquitin specific peptidase 7
  WD repeat domain 26

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.