| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Required for the uptake of creatine in muscles and brain. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CRT1; IsoId=P48029-1; Sequence=Displayed; Name=2; Synonyms=CRT2, SLC6A8B; IsoId=P48029-2; Sequence=VSP_043917, VSP_043918, VSP_043919, VSP_043920; Name=3; Synonyms=SLC6A8C; IsoId=P48029-3; Sequence=VSP_043916; TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. DISEASE: Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8"; GENE SYNONYMS:SLC6A8. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 635 AA; 70523 MW; 9FAFE100B2A5B845 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:11055,
urn:biopax:RelationshipXref:NCBI GENE_6535,
urn:biopax:RelationshipXref:REFSEQ_NP_001136277,
urn:biopax:RelationshipXref:REFSEQ_NP_001136278,
urn:biopax:RelationshipXref:REFSEQ_NP_005620,
urn:biopax:UnificationXref:UNIPROT_B2KY47,
urn:biopax:UnificationXref:UNIPROT_P48029,
urn:biopax:UnificationXref:UNIPROT_Q13032,
urn:biopax:UnificationXref:UNIPROT_Q66I36
|
| biopax3:displayName |
SC6A8_HUMAN
|
| biopax3:name |
CT1,
Creatine transporter 1,
SLC6A8,
Solute carrier family 6 member 8
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM
|
| biopax3:standardName |
Sodium- and chloride-dependent creatine transporter 1
|