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6535 SLC6A8

6535

SLC6A8

solute carrier family 6 member 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 6 member 8

研究结论

Date Results Publications
2021-04-17 13:38:00 Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function. 32433978
2021-02-02 13:28:00 Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. 33164824
2020-12-12 13:27:00 Studies of structural determinants of substrate binding in the Creatine Transporter (CreaT, SLC6A8) using molecular models. 32277128
2020-11-21 13:33:00 Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts. 32124083
2020-11-21 13:14:00 Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter. 32207963

名称对应

Type IDs
Synonymous CCDS1, CRT, CRTR, CT1, CTR5
Gene
UniProtKB-ID: SC6A8_HUMAN, X5D9C4_HUMAN, Q59EV7_HUMAN
UniprotKB: P48029, X5D9C4, Q59EV7
UniParc: UPI00000709CF, UPI00004F6DDA, UPI0001738F5F, UPI0001884BDE, UPI00001354A0
EMBL: U52111, U36341, S74039, U17986, BC081558, BC012355, EU280316, Z66539, L31409, AK295495, AB209704, KJ534943
Ensembl: ENSG00000130821
KO: hsa:6535
Nucleutide sequences
EMBL-CDS: CAA91442.1, AAH81558.1, AAB32284.1, AAC41688.1, BAG58415.1, AAH12355.1, AAA79507.1, AAA86990.1, ABZ82022.1, AHW56583.1, BAD92941.1
Ensembl_TRS: ENST00000253122, ENST00000430077
Protein sequencees
Ensembl_PRO: ENSP00000253122, ENSP00000403041
RefSeq: NP_001136278.1, NP_005620.1, NP_001136277.1
Others
UniRef100: UniRef100_K7BYC7, UniRef100_P48029
UniRef90: UniRef90_P48029, UniRef90_K7BYC7
UniRef50: UniRef50_P48029
UniGene: Hs.540696
CCDS: CCDS48190.1, CCDS14726.1

全选

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