| Type | Description |
|---|---|
| Definition | glucosamine (N-acetyl)-6-sulfatase |
| Date | Results | Publications |
|---|---|---|
| 2017-05-20 14:00:00 | Mice deficient in GNS showed lysosomal storage pathology and a phenotype that closely resembled human MPSIIID. Moreover, treatment of the GNS-deficient animals with GNS-encoding adeno-associated viral (AAV) vectors of serotype 9 delivered to the cerebrospinal fluid completely corrected pathological storage, improved lysosomal functionality in the CNS and somatic tissues, resolved neuroinflammation | 28334745 |
| 2010-08-02 12:19:00 | 12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID. | 20232353 |
| 2010-01-21 00:00:00 | The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase. | 12624138 |
| 2010-01-21 00:00:00 | Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene. | 17998446 |
| 2010-01-21 00:00:00 | A large intragenic deletion of 8723 bp encompassing exons 2 and 3 has been identified, the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes. Q272X has also been found. | 16990043 |
| Type | IDs |
|---|---|
| Synonymous | G6S |
| Gene |
UniProtKB-ID:
GNS_HUMAN,
Q7Z3X3_HUMAN,
A0A024RBC5_HUMAN
UniprotKB:
P15586,
Q7Z3X3,
A0A024RBC5
UniParc:
UPI00001A995B,
UPI0000000CC8,
UPI00001FC6C4
EMBL:
AK302443,
BC012482,
BX537363,
KU178097,
CH471054,
AC025262,
AK223484,
Z12173
Ensembl:
ENSG00000135677
KO:
hsa:2799
|
| Nucleutide sequences |
EMBL-CDS:
AAH12482.1,
CAA78164.1,
BAG63740.1,
BAD97204.1,
CAD97608.1,
EAW97140.1,
EAW97138.1,
ALQ33555.1
Gene_ORFName:
hCG_1640559
Ensembl_TRS:
ENST00000542058,
ENST00000258145
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000444819,
ENSP00000258145
RefSeq:
NP_002067.1
|
| Others |
UniRef100:
UniRef100_Q7Z3X3,
UniRef100_P15586
UniRef90:
UniRef90_P15586
UniRef50:
UniRef50_P15586
UniGene:
Hs.334534
CCDS:
CCDS8970.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
|---|---|---|---|
| 30833792 |
Nat. Immunol. Philipp Hubel , Christian Urban , Valter Bergant , William M Schneider , Barbara Knauer , Alexey Stukalov , Pietro Scaturro , Angelika Mann , Linda Brunotte , Heinrich H Hoffmann , John W Schoggins , Martin Schwemmle , Matthias Mann , Charles M Rice , Andreas Pichlmair |
2019-04-01 | - |
| 29872149 |
Agrin has a pathological role in the progression of oral cancer. Br. J. Cancer César Rivera , Flávia Silva Zandonadi , Celeste Sánchez-Romero , Ciro Dantas Soares , Daniela Campos Granato , Wilfredo Alejandro González-Arriagada , Adriana Franco Paes Leme |
2018-06-01 | - |
| 29507755 |
Cell Discov Yanan Yue , Jun Liu , Xiaolong Cui , Jie Cao , Guanzheng Luo , Zezhou Zhang , Tao Cheng , Minsong Gao , Xiao Shu , Honghui Ma , Fengqin Wang , Xinxia Wang , Bin Shen , Yizhen Wang , Xinhua Feng , Chuan He , Jianzhao Liu |
2018-01-01 | - |
| 28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
| 28334745 |
Hum. Mol. Genet. Carles Roca , Sandra Motas , Sara Marcó , Albert Ribera , VÃctor Sánchez , Xavier Sánchez , Joan Bertolin , Xavier León , Jennifer Pérez , Miguel Garcia , Pilar Villacampa , Jesús Ruberte , Anna Pujol , Virginia Haurigot , Fatima Bosch |
2017-04-15 | - |
| 26871637 |
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal |
2016-02-11 |
USH1C,
PQBP1,
OPTN,
RBM5,
CDK5,
CDK7,
RABEPK,
SRRM1,
NOD1,
CD2BP2,
RBM14,
HAX1,
SLC30A9,
STK25,
SEMA4F,
SLC19A2,
CETP,
SRSF10,
SEPT9,
ALDH1L1,
RCC1,
LDB3,
AKAP10,
SEC63,
PHF21B,
HELQ,
CKB,
ERCC8,
CLCN2,
ZFYVE27,
CLPTM1,
TTC8,
C15orf40,
COL1A2,
BBS5,
ACMSD,
DNAJC19,
CPA2,
C7orf34,
CRH,
CRK,
RDH12,
MIPOL1,
ZNF688,
SLC25A10,
NKX2-5,
CTNS,
CTSD,
UPP2,
CYBB,
CYP11A1,
TSTD2,
DAO,
REM2,
DYX1C1,
DCN,
DDC,
GLIS3,
DGUOK,
DHCR7,
DMD,
E2F6,
TYMP,
EGR2,
FLCN,
EPHX1,
EYA4,
ETFA,
ETV6,
FANCC,
FANCG,
EFEMP1,
MICU2,
ZUFSP,
FCGR3A,
ABCB7,
FGA,
FGFR1,
FH,
DOLK,
KIAA0907,
ARHGEF15,
SETX,
ARHGAP26,
SPG20,
FMO3,
ETHE1,
SLC39A14,
CDK20,
SMUG1,
FXN,
FTSJ1,
MCM9,
GABRA2,
GAD1,
SUMF2,
GALT,
UNC50,
FBXO8
|
| 26496610 |
A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , Jürgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , Jörg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann |
2015-10-22 |
Cep85l,
Rcc1,
Zbtb48,
Bsdc1,
Kifc1,
Ccp110,
Ints4,
Slc6a8,
Cenpi,
Nup107,
Xpo1,
Fbxw11,
Tubg1,
Csnk1d,
Bap1,
Ptpn23,
Tecpr2,
Slain1,
Ankrd28,
Prkaa1,
Espl1,
Gbf1,
Cdc20,
Cenpf,
Trip11,
Mbd5,
Kif22,
Dut,
Srsf1,
Actb,
Spred2,
Akt2,
Mta1,
Tgs1,
Pip4k2c,
Ankfy1,
Apc,
Ar,
Rhoa,
Atp2a2,
Atp5a1,
Atp7a,
Cep131,
Bach1,
Bcl7c,
Bmpr1a,
Brca1,
Bub1,
Bub1b,
C1qbp,
Anxa2,
Calu,
Cbx1,
Cbx4,
Cct2,
Cct3,
Cct4,
Cct7,
Cct8,
Cd2ap,
Cdk1,
Cdc37,
Cdh1,
Chek1,
Cit,
Copa,
Crebbp,
Cry1,
Csk,
Smc3,
Dctn1,
Ddb1,
Cdk2ap1,
Mapre1,
Ect2,
Eef1a1,
Eif3a,
Mark2,
Evpl,
Ewsr1,
Wdr5,
Dclre1b,
Fbl,
Fgfr1,
Flot1,
Flot2,
B4galt1,
Gnb1,
Gspt1,
Hdac6,
Herc2,
Hsf1,
Hsph1,
Elavl1,
Id2,
Cyr61,
Cep250,
Insr,
Eif3e
|
| 25659154 |
ABCE1 is a highly conserved RNA silencing suppressor. PLoS ONE Kairi Kärblane , Jelena Gerassimenko , Lenne Nigul , Alla Piirsoo , Agata Smialowska , Kadri Vinkel , Per Kylsten , Karl Ekwall , Peter Swoboda , Erkki Truve , Cecilia Sarmiento |
2015-01-01 | - |
| 23533145 |
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics Simona Principe , E Ellen Jones , Yunee Kim , Ankit Sinha , Julius O Nyalwidhe , Jasmin Brooks , O John Semmes , Dean A Troyer , Raymond S Lance , Thomas Kislinger , Richard R Drake |
2013-05-01 | - |
| 23376485 |
Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. J Proteomics Marco Prunotto , Annarita Farina , Lydie Lane , Agnès Pernin , Jürg Schifferli , Denis F Hochstrasser , Pierre Lescuyer , Solange Moll |
2013-04-26 |
CDH2,
GNPDA1,
C1orf68,
PDCD6IP,
PDCD6,
TOM1L1,
CDH6,
IL18BP,
DPP3,
SNUPN,
ARPC5,
CDH11,
ARPC4,
ARPC3,
ARPC1B,
ACTR3,
ACTR2,
TSPAN1,
ARPC2,
ACTR1B,
ACTR1A,
CDH13,
PDIA6,
TRAP1,
PDZK1IP1,
ATP6AP2,
DHRS2,
NUTF2,
FLOT1,
PSMD14,
RIDA,
GLYAT,
ZMPSTE24,
STUB1,
RTN3,
LANCL1,
CRISP3,
SIRPB1,
AKR1A1,
TFG,
TUBA1B,
BPNT1,
TUBB4B,
BTN2A2,
NDRG1,
RACK1,
ST3GAL6,
CPQ,
WFDC2,
BASP1,
IFITM3,
CDSN,
LYPLA1,
FAM3C,
ACAA2,
VAV3,
TOMM40,
BAIAP2,
ATP5H,
CEACAM5,
CAP1,
VAT1,
FBLN5,
CIB1,
GLRX3,
PROCR,
ARL6IP5,
ARPC1A,
OLFM4,
CEL,
CCT7,
CCT4,
CCT2,
NPC2,
DNPH1,
PAICS,
MYL12A,
ATP5L,
YKT6,
PMVK,
GNA13,
B3GNT2,
CCT8,
CETP,
CFL1,
PTGES3,
RBBP9,
MASP2,
CTSC,
GIPC1,
AHCYL1,
IQGAP2,
VAMP5,
CFTR,
ALDH1L1,
FTCD,
RUVBL2,
PGRMC1,
FGL2
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员