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9394 HS6ST1

9394

HS6ST1

heparan sulfate 6-O-sulfotransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition heparan sulfate 6-O-sulfotransferase 1

研究结论

Date Results Publications
2019-05-18 12:37:00 We have linked a deleterious mutation in HS6ST1 to familial self-limited delayed puberty and show that heterozygous Hs6st1 loss causes delayed puberty in mice. In this study, the observed overlap in potentially pathogenic mutations contributing to the phenotypes of self-limited delayed puberty and hypogonadotropic hypogonadism was limited to this one gene. 29931354
2018-07-07 10:16:00 RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma. 29104277
2014-06-21 11:11:00 HS6ST-1 and HS6ST-2 have roles in regulating the angiogenic program in ovarian cancer cells affecting HB-EGF signaling and subsequent expression of angiogenic cytokines by cancer cells 24563483
2014-04-05 10:56:00 Hs6st1 and Hs2st generate conditions conducive to corpus callosum development. 24501377
2011-09-24 10:58:00 idiopathic hypogonadotrophic hypogonadism--associated HS6ST1 mutations display reduced activity in vitro and in vivo, suggesting that HS6ST1 and the complex modifications of extracellular sugars are critical for normal development 21700882

名称对应

Type IDs
Synonymous HH15, HS6ST
Gene
UniProtKB-ID: H6ST1_HUMAN
UniprotKB: O60243
UniParc: UPI0000D61231, UPI00017A70E7
EMBL: AC017079, BC099638, AB006179, BC096239, AK295898, AK293724, BC099639, BC096240, BC001196
Ensembl: ENSG00000136720
KO: hsa:9394
Nucleutide sequences
EMBL-CDS: AAH01196.1, AAH96239.4, BAG58691.1, AAY14736.1, AAH99639.4, AAH96240.4, BAA25760.1, AAH99638.4, BAG57153.1
Ensembl_TRS: ENST00000259241
Protein sequencees
Ensembl_PRO: ENSP00000259241
RefSeq: NP_004798.3
Others
UniRef100: UniRef100_O60243
UniRef90: UniRef90_O60243
UniRef50: UniRef50_O60243
UniGene: Hs.512841
CCDS: CCDS42748.1

全选

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