Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
Human, rat and chicken small intestinal Na+ - Cl- -creatine transporter: functional, molecular characterization and localization.
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Enterocyte creatine uptake is electrogenic and Na+/Cl--dependent with a probable stoichiometry of 2 Na+ : 1 Cl- : 1 creatine, with high substrate specificity for creatine, and CRT localizes to the apical enterocyte membrane.
"This accumulation was electrogenic, Na(+)- and Cl(-)-dependent, with a probable stoichiometry of 2 Na(+): 1 Cl(-): 1 creatine"
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
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Non-truncating SLC6A8 mutants traffic correctly to the plasma membrane but lose both electrogenic and creatine-transport activities, demonstrating electrogenic Na+/Cl--coupled creatine symport.
"All mutants were properly targeted to the plasma membrane in both systems."
Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
The cloning and expression of a human creatine transporter.
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Heterologous expression of the cloned human creatine transporter produces sodium-dependent creatine uptake (Km 14.9 uM); mRNA most prominent in skeletal muscle, heart and kidney.
"Transient expression of the hCRT-BS2M in COS-7 cells demonstrates sodium dependent [14C]creatine uptake with a KM value of 14.9 +/- 3.0 microM"
Cloning, pharmacological characterization, and genomic localization of the human creatine transporter.
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The cloned human creatine transporter mediates high-affinity creatine uptake (Km 77 uM) with no choline transport; highest mRNA in skeletal muscle, kidney and heart; gene maps to Xq28.
"mediated high affinity (Km = 77 +/- 6 microM) creatine uptake, which was blocked by creatine analogs with high affinity. There was no specific transport of choline"
Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28.
The genomic organization of a human creatine transporter (CRTR) gene located in Xq28.
Molecular characterization of the human CRT-1 creatine transporter expressed in Xenopus oocytes.
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The human heart CRT-1 cDNA expressed in Xenopus oocytes induces Na+- and Cl--dependent creatine uptake (Km ~20 uM); Km(Na+) 59 mM, Km(Cl-) 5 mM.
"induced a Na+- and Cl--dependent creatine uptake activity that saturated with a Km of approximately 20 microM for creatine"
Creatine transport across the plasma membrane