Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.7.11.14 extracted from

  • Hayashi, T.; Gekka, T.; Takeuchi, T.; Goto-Omoto, S.; Kitahara, K.
    A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses (2007), Ophthalmology, 114, 134-141.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene GRK1, DNA and amino acid sequence determination and anaylsis of wild-type enzyme mutant genes Homo sapiens

Protein Variants

Protein Variants Comment Organism
P391H a naturally occuring homozygous mutation in gene GRK1 leading to the Oguchi disease, a stationary blindness with autosomal recessive transmission, with markedly reduced cone response Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
Japanese Oguchi disease patients, gene GRK1
-

Posttranslational Modification

Posttranslational Modification Comment Organism
lipoprotein the enzyme contains a myristoylation site at the N-terminus and a C-terminal farnesylation site, overview Homo sapiens
phosphoprotein the enzyme performs autophosphorylation at Ser491 and Thr492 of the C-terminal domain Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
eye
-
Homo sapiens
-
retina
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the enzyme performs autophosphorylation at Ser491 and Thr492 of the C-terminal domain Homo sapiens ?
-
?

Subunits

Subunits Comment Organism
More enzyme organization with an N-terminal region containing a myristoylation site and a rhodopsin binding site, with the central catalytic domain, and a C-terminal domain harboring an autophosphorylation site and a farnesylation site, overview Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens