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Literature summary for 2.7.11.16 extracted from

  • Lessel, D.; Muhammad, T.; Casar Tena, T.; Moepps, B.; Burkhalter, M.D.; Hitz, M.P.; Toka, O.; Rentzsch, A.; Schubert, S.; Schalinski, A.; Bauer, U.M.; Kubisch, C.; Ware, S.M.; Philipp, M.
    The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 (2016), Sci. Rep., 6, 33231 .
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK293 cells and fertilized eggs from Danio rerio Homo sapiens

Protein Variants

Protein Variants Comment Organism
G298S the complete loss-of-function variant is identified in heterotaxy patients Homo sapiens
Q41L the variant is identified in heterotaxy patients Homo sapiens
R304C the variant is identified in heterotaxy patients Homo sapiens
T425M the variant is identified in heterotaxy patients Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
membrane cytosolic side of the plasma membrane Homo sapiens 16020
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + [G-protein-coupled receptor] Homo sapiens
-
 ADP + [G-protein-coupled receptor] phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P34947
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + [G-protein-coupled receptor]
-
 Homo sapiens ADP + [G-protein-coupled receptor] phosphate
-
 ?

Synonyms

Synonyms Comment Organism
G protein-coupled receptor kinase 5
-
 Homo sapiens
GRK5
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme dysfunction is associated with congenital heart defects Homo sapiens