| Type | Description |
|---|---|
| Definition | ALG8 alpha-1,3-glucosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 12:01:00 | analysis of genetic variants in ALG8 in patients with congenital disorders of glycosylation | 30420707 |
| 2017-09-16 10:34:00 | used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. | 28375157 |
| 2016-04-30 11:31:00 | In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions | 26066342 |
| 2014-09-27 10:50:00 | We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs. | 24555185 |
| 2012-07-28 10:42:00 | Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8 | 22306853 |
| Type | IDs |
|---|---|
| Synonymous | CDG1H, PCLD3 |
| Gene |
UniProtKB-ID:
ALG8_HUMAN,
A0A024R5K5_HUMAN
UniprotKB:
Q9BVK2,
A0A024R5K5
UniParc:
UPI000013E5C8,
UPI00004B2480
EMBL:
BC001133,
AP002520,
KU178764,
CH471076,
AJ224875
Ensembl:
ENSG00000159063
KO:
hsa:79053
|
| Nucleutide sequences |
EMBL-CDS:
CAA12176.1,
AAH01133.1,
EAW75050.1,
EAW75048.1,
ALQ34222.1,
EAW75051.1
Gene_ORFName:
HUSSY-02,
hCG_1819356
Ensembl_TRS:
ENST00000376156,
ENST00000299626,
ENST00000615266
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365326,
ENSP00000480742,
ENSP00000299626
RefSeq:
XP_011543554.1,
XP_016873763.1,
NP_001007028.1,
NP_076984.2,
XP_005274304.1
|
| Others |
UniRef100:
UniRef100_Q9BVK2
UniRef90:
UniRef90_Q9BVK2
UniRef50:
UniRef50_Q9BVK2
UniGene:
Hs.503368
CCDS:
CCDS41692.1,
CCDS8258.1
|
| {{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 |
|---|---|---|---|
| 32694731 |
Nat Metab Michael Aregger , Keith A Lawson , Maximillian Billmann , Michael Costanzo , Amy H Y Tong , Katherine Chan , Mahfuzur Rahman , Kevin R Brown , Catherine Ross , Matej Usaj , Lucy Nedyalkova , Olga Sizova , Andrea Habsid , Judy Pawling , Zhen-Yuan Lin , Hala Abdouni , Cassandra J Wong , Alexander Weiss , Patricia Mero , James W Dennis , Anne-Claude Gingras , Chad L Myers , Brenda J Andrews , Charles Boone , Jason Moffat |
2020-06-01 | - |
| 32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
| 30420707 |
Pediatr Res Sandrine Vuillaumier-Barrot , Manuel Schiff , Francesca Mattioli , Elise Schaefer , Audrey Dupont , Julia Dancourt , Thierry Dupré , Alain Couvineau , Hélène Ogier de Baulny , Pascale de Lonlay , Nathalie Seta , Stuart Moore , Isabelle Chantret |
2019-02-01 | - |
| 29117863 |
BMC Biol Nila Roy Choudhury , Gregory Heikel , Maryia Trubitsyna , Peter Kubik , Jakub Stanislaw Nowak , Shaun Webb , Sander Granneman , Christos Spanos , Juri Rappsilber , Alfredo Castello , Gracjan Michlewski |
2017-11-08 | - |
| 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 | - |
| 28375157 |
Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest Whitney Besse , Ke Dong , Jungmin Choi , Sohan Punia , Sorin V Fedeles , Murim Choi , Anna-Rachel Gallagher , Emily B Huang , Ashima Gulati , James Knight , Shrikant Mane , Esa Tahvanainen , Pia Tahvanainen , Simone Sanna-Cherchi , Richard P Lifton , Terry Watnick , York P Pei , Vicente E Torres , Stefan Somlo |
2017-05-01 | - |
| 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
|
| 26186194 |
The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin Wühr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi |
2015-07-16 | - |
| 25910212 |
Widespread macromolecular interaction perturbations in human genetic disorders. Cell Nidhi Sahni , Song Yi , Mikko Taipale , Juan I Fuxman Bass , Jasmin Coulombe-Huntington , Fan Yang , Jian Peng , Jochen Weile , Georgios I Karras , Yang Wang , István A Kovács , Atanas Kamburov , Irina Krykbaeva , Mandy H Lam , George Tucker , Vikram Khurana , Amitabh Sharma , Yang-Yu Liu , Nozomu Yachie , Quan Zhong , Yun Shen , Alexandre Palagi , Adriana San-Miguel , Changyu Fan , Dawit Balcha , Amelie Dricot , Daniel M Jordan , Jennifer M Walsh , Akash A Shah , Xinping Yang , Ani K Stoyanova , Alex Leighton , Michael A Calderwood , Yves Jacob , Michael E Cusick , Kourosh Salehi-Ashtiani , Luke J Whitesell , Shamil Sunyaev , Bonnie Berger , Albert-László Barabási , Benoit Charloteaux , David E Hill , Tong Hao , Frederick P Roth , Yu Xia , Albertha J M Walhout , Susan Lindquist , Marc Vidal |
2015-04-23 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
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目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
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{{author.size}} |
目前还没有研究热点人员