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3340 NDST1

3340

NDST1

N-deacetylase and N-sulfotransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition N-deacetylase and N-sulfotransferase 1

研究结论

Date Results Publications
2021-04-03 13:32:00 Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. 32878022
2020-10-03 12:52:00 MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1. 31364126
2017-10-21 12:14:00 Compound heterozygous mutations in NDST1 were identified, in the heparan sulfate N deacetylatase domain of one allele and the sulfotransferase domain of the other allele. This report expands the phenotypic spectrum of Ndst1 deficiency in humans. 28211985
2017-07-15 10:05:00 Among the genes enriched in this screening, the authors found that TM9SF2 is critical for N-sulfation of heparan sulfate and therefore for chikungunya virus infection because it is involved in the proper localization and stability of NDST1. 28404855
2016-05-21 12:55:00 Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. 25125150

名称对应

Type IDs
Synonymous HSST, MRT46, NST1
Gene
UniProtKB-ID: NDST1_HUMAN, E7EVJ3_HUMAN, B7Z1Q0_HUMAN, A8K8T3_HUMAN
UniprotKB: P52848, E7EVJ3, B7Z1Q0, A8K8T3
UniParc: UPI00015DA9E6, UPI000012CDA5, UPI000020CFC1, UPI0001914AD9, UPI000020CFC5
EMBL: U18918, AK292448, BC012888, AK293746, AC008472, U17970, AC011383, U36600, KF510896
Ensembl: ENSG00000070614
KO: hsa:3340
Nucleutide sequences
EMBL-CDS: AAH12888.1, AAA67765.1, AAA75281.1, AAC27354.1, BAH11586.1, BAF85137.1
Ensembl_TRS: ENST00000261797, ENST00000523767
Protein sequencees
Ensembl_PRO: ENSP00000261797, ENSP00000428604
RefSeq: NP_001287992.1, NP_001534.1
Others
UniRef100: UniRef100_A8K8T3, UniRef100_E7EVJ3, UniRef100_P52848, UniRef100_B7Z1Q0
UniRef90: UniRef90_P52848, UniRef90_E7EVJ3
UniRef50: UniRef50_O95803, UniRef50_P52848
UniGene: Hs.222055
CCDS: CCDS34277.1

全选

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