HS6ST3 (heparan sulfate 6-O-sulfotransferase 3)

symbol:
HS6ST3
locus group:
protein-coding gene
location:
13q32.1
gene_family:
Sulfotransferases, membrane-bound
alias symbol:
None
alias name:
None
entrez id:
266722
ensembl gene id:
ENSG00000185352
ucsc gene id:
uc001vmw.4
refseq accession:
NM_153456
hgnc_id:
HGNC:19134
approved reserved:
2002-10-07
13q32.1

HS6ST3(肝素硫酸6-O-磺基转移酶3)属于HS6ST基因家族,该家族还包括HS6ST1和HS6ST2,它们共同参与肝素硫酸(HS)的6-O-硫酸化修饰。HS6ST家族的主要功能是通过催化硫酸基团转移到肝素硫酸链的6-O位点,从而调节HS的结构和功能。肝素硫酸是一种重要的糖胺聚糖,广泛存在于细胞表面和细胞外基质中,参与多种生物学过程,如细胞信号传导、细胞粘附、炎症反应和发育调控。HS6ST3主要在神经系统和某些内分泌组织中表达,其表达产物通过调节HS的硫酸化模式影响生长因子(如FGF、Wnt和BMP)的信号传导。HS6ST3的突变可能导致HS硫酸化模式的改变,进而影响相关信号通路的活性,与神经系统发育异常、肿瘤发生和代谢疾病等病理过程相关。例如,HS6ST3的表达异常可能与阿尔茨海默病和某些癌症的进展有关。过表达HS6ST3可能增强HS的6-O-硫酸化,促进某些生长因子(如FGF2)的信号传导,从而影响细胞增殖和迁移;而降低HS6ST3表达可能导致HS硫酸化不足,削弱相关信号通路,影响神经发育或组织修复。HS6ST家族成员的共性在于它们都参与HS的6-O-硫酸化,但各自的组织分布和底物偏好可能不同,从而在特定生理或病理过程中发挥独特作用。研究HS6ST3的功能有助于理解HS修饰在疾病中的作用,并为相关治疗策略的开发提供线索。

中文English

硫酸类肝素(HS)磺基转移酶,如HS6ST3,修改的HS产生用于HS和多种蛋白质之间的相互作用所需的结构。这些相互作??用的增殖和分化,黏附,迁移,炎症,血液凝固等多样化进程牵连(Habuchi等,2000 [考研10644753])。[由OMIM,2008年3月供应]

HS6ST3基因的碱基序列:[NCBI]
Loading Gene Browser...
蛋白质序列
1MDERFNKWLL TPVLTLLFVV IMYQYVSPSC TSSCTNFGEQ
41PRAGEAGPPA VPGPARRAQA PPEEWERRPQ LPPPPRGPPE
81 GPRGAAAPE EEDEEPGDPR EGEEEEEEDE PDPEAPENGS
121LPRFVPRFNF SLKDLTRFVD FNIKGRDVIV FLHIQKTGGT
161T FGRHLVKN IRLEQPCSCK AGQKKCTCHR PGKKETWLFS
201RFSTGWSCGL HADWTELTNC VPAIMEKKDC PRNHSHTRNF
241YY ITMLRDP VSRYLSEWKH VQRGATWKTS LHMCDGRSPT
281PDELPTCYPG DDWSGVSLRE FMDCTYNLAN NRQVRMLADL
321SLV GCYNLT FMNESERNTI LLQSAKNNLK NMAFFGLTEF
361QRKTQFLFER TFNLKFISPF TQFNITRASN VEINEGARQR
401IEDL NFLDM QLYEYAKDLF QQRYHHTKQL EHQRDRQKRR
441EERRLQREHR DHQWPKEDGA AEGTVTEDYN SQVVRW
结构预测来自 AlphaFold DB(UniProt: Q8IZP7),颜色表示 pLDDT 置信度(深蓝高、黄橙低)。
HS6ST3基因的碱基突变:           仅显示部分snp
rs3864       rs377676       rs384431       rs386042       rs401152       rs404177       rs411581       rs413516       rs417259       rs426351       rs431500       rs449524       rs472010       rs472092       rs474736       rs476345       rs476728      

HS6ST3基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TCTAACGTGGAGATCAACGA
59
TGTCCAGGAAGTTTAGATCCTC
59
GGTCAGAAGAAGTGCACCT
60
TAGAAATTCCTGGTGTGGCT
59
GTCAGAAGAAGTGCACCTG
59
ATAGAAATTCCTGGTGTGGC
58
TTCTAACGTGGAGATCAACGA
59
GTCCAGGAAGTTTAGATCCTC
58
AGAGTGAAAGAAACACCATCC
58
AAGGCCATGTTCTTCAGGT
59
GTCAGAAGAAGTGCACCTG
59
TAGAAATTCCTGGTGTGGCT
59
      尚未收录相关数据

HS6ST3基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

HS6ST3基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0008146
A0A087X0G1 (UniProtKB)
IEA
GO:0016021
A0A087X0G1 (UniProtKB)
IEA
GO:0015015
Q8IZP7 (UniProtKB)
IBA
GO:0016021
Q8IZP7 (UniProtKB)
IEA
GO:0017095
Q8IZP7 (UniProtKB)
IBA

可能调控 HS6ST3基因的相关microRNA:     

String
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关联基因 作用方式 资源库来源/分值
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Diabetic Retinopathy 0.120542884 2 1 BeFree_GWASCAT
Obesity 0.120542884 2 1 BeFree_GWASCAT
Tobacco Use Disorder 0.002367032 1 0 GAD
Albuminuria 0.002367032 1 1 GAD
Diabetes Mellitus 0.000271442 1 0 BeFree
Diabetes 0.000271442 1 0 BeFree
Expression of sulfate pathway genes in human neurodevelopment.
Vijayakumar P, Summers KM, Dawson PA J Neurogenet IF: 1.1 None
Whole genome and transcriptome sequencing of matched primary and peritoneal metastatic gastric carcinoma.
Zhang J, Huang J Y, Chen Y N, Yuan F, Zhang H, Yan F H, Wang M J, Wang G, Su M, Lu G, Huang Y, Dai H, Ji J, Zhang J, Zhang J N, Jiang Y N, Chen S J, Zhu Z G, Yu Y Y Sci Rep IF: 4.9 2016-09-12
Heparan sulfate 6-O-sulfotransferase 3 is involved in bone marrow mesenchymal stromal cell osteogenic differentiation‍.
Zhao Shancheng, Deng Chao, Wang Zhen, Teng Liping, Chen Jinghua Biochemistry (Mosc) IF: 2.1 2015-12-16
Association of HS6ST3 gene polymorphisms with obesity and triglycerides: gene x gender interaction.
Wang Ke-Sheng, Wang Liang, Liu Xuefeng, Zeng Min J Genet IF: 1.0 2014-06-27
Changes in glycosaminoglycan structure on differentiation of human embryonic stem cells towards mesoderm and endoderm lineages.
Gasimli Leyla, Hickey Anne Marie, Yang Bo, Li Guoyun, dela Rosa Mitche, Nairn Alison V, Kulik Michael J, Dordick Jonathan S, Moremen Kelley W, Dalton Stephen, Linhardt Robert J Biochim Biophys Acta 2014-07-03
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Berndt Sonja I, Gustafsson Stefan, Mägi Reedik, Ganna Andrea, Wheeler Eleanor, Feitosa Mary F, Justice Anne E, Monda Keri L, Croteau-Chonka Damien C, Day Felix R, Esko Tõnu, Fall Tove, Ferreira Teresa, Gentilini Davide, Jackson Anne U, Luan Jian'an, Randall Joshua C, Vedantam Sailaja, Willer Cristen J, Winkler Thomas W, Wood Andrew R, Workalemahu Tsegaselassie, Hu Yi-Juan, Lee Sang Hong, Liang Liming, Lin Dan-Yu, Min Josine L, Neale Benjamin M, Thorleifsson Gudmar, Yang Jian, Albrecht Eva, Amin Najaf, Bragg-Gresham Jennifer L, Cadby Gemma, den Heijer Martin, Eklund Niina, Fischer Krista, Goel Anuj, Hottenga Jouke-Jan, Huffman Jennifer E, Jarick Ivonne, Johansson Åsa, Johnson Toby, Kanoni Stavroula, Kleber Marcus E, König Inke R, Kristiansson Kati, Kutalik Zoltán, Lamina Claudia, Lecoeur Cecile, Li Guo, Mangino Massimo, McArdle Wendy L, Medina-Gomez Carolina, Müller-Nurasyid Martina, Ngwa Julius S, Nolte Ilja M, Paternoster Lavinia, Pechlivanis Sonali, Perola Markus, Peters Marjolein J, Preuss Michael, Rose Lynda M, Shi Jianxin, Shungin Dmitry, Smith Albert Vernon, Strawbridge Rona J, Surakka Ida, Teumer Alexander, Trip Mieke D, Tyrer Jonathan, Van Vliet-Ostaptchouk Jana V, Vandenput Liesbeth, Waite Lindsay L, Zhao Jing Hua, Absher Devin, Asselbergs Folkert W, Atalay Mustafa, Attwood Antony P, Balmforth Anthony J, Basart Hanneke, Beilby John, Bonnycastle Lori L, Brambilla Paolo, Bruinenberg Marcel, Campbell Harry, Chasman Daniel I, Chines Peter S, Collins Francis S, Connell John M, Cookson William O, de Faire Ulf, de Vegt Femmie, Dei Mariano, Dimitriou Maria, Edkins Sarah, Estrada Karol, Evans David M, Farrall Martin, Ferrario Marco M, Ferrières Jean, Franke Lude, Frau Francesca, Gejman Pablo V, Grallert Harald, Grönberg Henrik, Gudnason Vilmundur, Hall Alistair S, Hall Per, Hartikainen Anna-Liisa, Hayward Caroline, Heard-Costa Nancy L, Heath Andrew C, Hebebrand Johannes, Homuth Georg, Hu Frank B, Hunt Sarah E, Hyppönen Elina, Iribarren Carlos, Jacobs Kevin B, Jansson John-Olov, Jula Antti, Kähönen Mika, Kathiresan Sekar, Kee Frank, Khaw Kay-Tee, Kivimäki Mika, Koenig Wolfgang, Kraja Aldi T, Kumari Meena, Kuulasmaa Kari, Kuusisto Johanna, Laitinen Jaana H, Lakka Timo A, Langenberg Claudia, Launer Lenore J, Lind Lars, Lindström Jaana, Liu Jianjun, Liuzzi Antonio, Lokki Marja-Liisa, Lorentzon Mattias, Madden Pamela A, Magnusson Patrik K, Manunta Paolo, Marek Diana, März Winfried, Mateo Leach Irene, McKnight Barbara, Medland Sarah E, Mihailov Evelin, Milani Lili, Montgomery Grant W, Mooser Vincent, Mühleisen Thomas W, Munroe Patricia B, Musk Arthur W, Narisu Narisu, Navis Gerjan, Nicholson George, Nohr Ellen A, Ong Ken K, Oostra Ben A, Palmer Colin N A, Palotie Aarno, Peden John F, Pedersen Nancy, Peters Annette, Polasek Ozren, Pouta Anneli, Pramstaller Peter P, Prokopenko Inga, Pütter Carolin, Radhakrishnan Aparna, Raitakari Olli, Rendon Augusto, Rivadeneira Fernando, Rudan Igor, Saaristo Timo E, Sambrook Jennifer G, Sanders Alan R, Sanna Serena, Saramies Jouko, Schipf Sabine, Schreiber Stefan, Schunkert Heribert, Shin So-Youn, Signorini Stefano, Sinisalo Juha, Skrobek Boris, Soranzo Nicole, Stančáková Alena, Stark Klaus, Stephens Jonathan C, Stirrups Kathleen, Stolk Ronald P, Stumvoll Michael, Swift Amy J, Theodoraki Eirini V, Thorand Barbara, Tregouet David-Alexandre, Tremoli Elena, Van der Klauw Melanie M, van Meurs Joyce B J, Vermeulen Sita H, Viikari Jorma, Virtamo Jarmo, Vitart Veronique, Waeber Gérard, Wang Zhaoming, Widén Elisabeth, Wild Sarah H, Willemsen Gonneke, Winkelmann Bernhard R, Witteman Jacqueline C M, Wolffenbuttel Bruce H R, Wong Andrew, Wright Alan F, Zillikens M Carola, Amouyel Philippe, Boehm Bernhard O, Boerwinkle Eric, Boomsma Dorret I, Caulfield Mark J, Chanock Stephen J, Cupples L Adrienne, Cusi Daniele, Dedoussis George V, Erdmann Jeanette, Eriksson Johan G, Franks Paul W, Froguel Philippe, Gieger Christian, Gyllensten Ulf, Hamsten Anders, Harris Tamara B, Hengstenberg Christian, Hicks Andrew A, Hingorani Aroon, Hinney Anke, Hofman Albert, Hovingh Kees G, Hveem Kristian, Illig Thomas, Jarvelin Marjo-Riitta, Jöckel Karl-Heinz, Keinanen-Kiukaanniemi Sirkka M, Kiemeney Lambertus A, Kuh Diana, Laakso Markku, Lehtimäki Terho, Levinson Douglas F, Martin Nicholas G, Metspalu Andres, Morris Andrew D, Nieminen Markku S, Njølstad Inger, Ohlsson Claes, Oldehinkel Albertine J, Ouwehand Willem H, Palmer Lyle J, Penninx Brenda, Power Chris, Province Michael A, Psaty Bruce M, Qi Lu, Rauramaa Rainer, Ridker Paul M, Ripatti Samuli, Salomaa Veikko, Samani Nilesh J, Snieder Harold, Sørensen Thorkild I A, Spector Timothy D, Stefansson Kari, Tönjes Anke, Tuomilehto Jaakko, Uitterlinden André G, Uusitupa Matti, van der Harst Pim, Vollenweider Peter, Wallaschofski Henri, Wareham Nicholas J, Watkins Hugh, Wichmann H-Erich, Wilson James F, Abecasis Goncalo R, Assimes Themistocles L, Barroso Inês, Boehnke Michael, Borecki Ingrid B, Deloukas Panos, Fox Caroline S, Frayling Timothy, Groop Leif C, Haritunian Talin, Heid Iris M, Hunter David, Kaplan Robert C, Karpe Fredrik, Moffatt Miriam F, Mohlke Karen L, O'Connell Jeffrey R, Pawitan Yudi, Schadt Eric E, Schlessinger David, Steinthorsdottir Valgerdur, Strachan David P, Thorsteinsdottir Unnur, van Duijn Cornelia M, Visscher Peter M, Di Blasio Anna Maria, Hirschhorn Joel N, Lindgren Cecilia M, Morris Andrew P, Meyre David, Scherag André, McCarthy Mark I, Speliotes Elizabeth K, North Kari E, Loos Ruth J F, Ingelsson Erik Nat Genet IF: 25.5 2013-06-18
Analysis of axon guidance defects at the optic chiasm in heparan sulphate sulphotransferase compound mutant mice.
Conway Christopher D, Price David J, Pratt Thomas, Mason John O J Anat IF: 2.2 2012-01-05
Cartilage tumour progression is characterized by an increased expression of heparan sulphate 6O-sulphation-modifying enzymes.
Waaijer Cathelijn J F, de Andrea Carlos E, Hamilton Andrew, van Oosterwijk Jolieke G, Stringer Sally E, Bovée Judith V M G Virchows Arch IF: 3.0 2012-12-31
Genome-wide association study of diabetic retinopathy in a Taiwanese population.
Huang Yu-Chuen, Lin Jane-Ming, Lin Hui-Ju, Chen Ching-Chu, Chen Shih-Yin, Tsai Chang-Hai, Tsai Fuu-Jen Ophthalmology IF: 10.9 2011-06-06

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