| Type | Description |
|---|---|
| Definition | ALG12 alpha-1,6-mannosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 12:05:00 | As a whole, ALG12-CDG behaves as a dual CDG (CDG-I and II defects) and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans | 31529350 |
| 2010-01-21 00:00:00 | this enzyme has a role in glycosylation and its deficiency causes congenital disorder of glycosylation type Ig | 12093361 |
| 2010-01-21 00:00:00 | deficiency results in congenital disorders of glycosylation type Ig | 11983712 |
| Type | IDs |
|---|---|
| Synonymous | CDG1G, ECM39, PP14673, hALG12 |
| Gene |
UniProtKB-ID:
ALG12_HUMAN,
A0A024R4V6_HUMAN
UniprotKB:
Q9BV10,
A0A024R4V6
UniParc:
UPI000006D8F9
EMBL:
CH471138,
AJ290427,
AL671710,
CR456369,
BC098562,
AF311904,
AF318343,
AJ303120,
BC001729
Ensembl:
ENSG00000182858
KO:
hsa:79087
|
| Nucleutide sequences |
EMBL-CDS:
CAC67488.1,
AAM94900.1,
CAC83681.1,
AAL55850.1,
EAW73480.1,
CAG30255.1,
AAH01729.1,
AAH98562.1,
EAW73482.1,
EAW73481.1
Gene_ORFName:
PP14673,
hCG_1735337
Ensembl_TRS:
ENST00000330817
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000333813
RefSeq:
NP_077010.1,
XP_016884425.1,
XP_016884426.1,
XP_011528673.1
|
| Others |
UniRef100:
UniRef100_Q9BV10
UniRef90:
UniRef90_Q9BV10
UniRef50:
UniRef50_Q9BV10
UniGene:
Hs.526711
CCDS:
CCDS14081.1
|
| {{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 | - |
| 31529350 |
ALG12-CDG: novel glycophenotype insights endorse the molecular defect. Glycoconj. J. Luisa Sturiale , Sebastiano Bianca , Domenico Garozzo , Alessandra Terracciano , Emanuele Agolini , Angela Messina , Angelo Palmigiano , Francesca Esposito , Chiara Barone , Antonio Novelli , Agata Fiumara , Jaak Jaeken , Rita Barone |
2019-12-01 | - |
| 28611215 |
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown |
2017-06-27 | - |
| 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 | - |
| 24927181 |
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Nat Commun Alexander A Navarini , Michael A Simpson , Michael Weale , Jo Knight , Isabelle Carlavan , Pascale Reiniche , David A Burden , Alison Layton , Veronique Bataille , Michael Allen , Robert Pleass , Andrew Pink , Daniel Creamer , John English , Stephanie Munn , Shernaz Walton , Acne Genetic Study Group , Carolyn Willis , Sophie Déret , Johannes J Voegel , Tim Spector , Catherine H Smith , Richard C Trembath , Jonathan N Barker |
2014-06-13 | - |
| 21988832 |
Toward an understanding of the protein interaction network of the human liver. Mol. Syst. Biol. Jian Wang , Keke Huo , Lixin Ma , Liujun Tang , Dong Li , Xiaobi Huang , Yanzhi Yuan , Chunhua Li , Wei Wang , Wei Guan , Hui Chen , Chaozhi Jin , Juncheng Wei , Wanqiao Zhang , Yongsheng Yang , Qiongming Liu , Ying Zhou , Cuili Zhang , Zhihao Wu , Wangxiang Xu , Ying Zhang , Tao Liu , Donghui Yu , Yaping Zhang , Liang Chen , Dewu Zhu , Xing Zhong , Lixin Kang , Xiang Gan , Xiaolan Yu , Qi Ma , Jing Yan , Li Zhou , Zhongyang Liu , Yunping Zhu , Tao Zhou , Fuchu He , Xiaoming Yang |
2011-10-11 | - |
| 21873635 |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas |
2011-09-01 | - |
| 19946888 |
Defining the membrane proteome of NK cells. J Mass Spectrom Dhimankrishna Ghosh , Dustin Lippert , Oleg Krokhin , John P Cortens , John A Wilkins |
2010-01-01 |
MED6,
PDCD6IP,
MED16,
PIGK,
DNAJB6,
FARSB,
DNM1L,
ABCF2,
HUWE1,
ARPC3,
ACTR3,
ACTR2,
RAD50,
PREB,
ACTR1B,
LRPPRC,
TRAP1,
BCAP31,
PLXNC1,
LPCAT3,
TNK2,
PSME3,
MPHOSPH9,
FLOT1,
DDX39A,
AK6,
ADAM10,
PLIN3,
CALCOCO2,
CDK9,
ABCC4,
ZMPSTE24,
AKAP8,
BET1,
MARCH6,
KATNB1,
ADAR,
EMC8,
BTN3A3,
ATP8A1,
NDC80,
CDIPT,
PGRMC2,
TUBGCP3,
ECI2,
COG5,
SLC25A17,
LRRC41,
SYNCRIP,
MYBBP1A,
DDX17,
CHERP,
HYOU1,
IPO7,
NOP56,
ARL6IP5,
HTATIP2,
AGPAT1,
ARFGEF2,
RABAC1,
SLU7,
PRPF8,
PAICS,
CENPE,
PMVK,
KHDRBS1,
CELF1,
GNA13,
CFL1,
MGEA5,
YME1L1,
STAG2,
CTSC,
GIPC1,
HBS1L,
TUBGCP2,
PGRMC1,
MAN1A2,
PNPLA6,
MAGED2,
ADCY3,
EHD1,
TOMM34,
ERP29,
YWHAQ,
ASCC3,
GCN1,
IMMT,
ILVBL,
SLC27A4,
SLC27A3,
KIF2C,
GLIPR1,
CPSF6,
DDX52,
WWP2,
CNTRL,
CHD4,
KRR1
|
| 15489334 |
Genome Res. Daniela S Gerhard , Lukas Wagner , Elise A Feingold , Carolyn M Shenmen , Lynette H Grouse , Greg Schuler , Steven L Klein , Susan Old , Rebekah Rasooly , Peter Good , Mark Guyer , Allison M Peck , Jeffery G Derge , David Lipman , Francis S Collins , Wonhee Jang , Steven Sherry , Mike Feolo , Leonie Misquitta , Eduardo Lee , Kirill Rotmistrovsky , Susan F Greenhut , Carl F Schaefer , Kenneth Buetow , Tom I Bonner , David Haussler , Jim Kent , Mark Kiekhaus , Terry Furey , Michael Brent , Christa Prange , Kirsten Schreiber , Nicole Shapiro , Narayan K Bhat , Ralph F Hopkins , Florence Hsie , Tom Driscoll , M Bento Soares , Tom L Casavant , Todd E Scheetz , Michael J Brown-stein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Yulan Piao , Dawood B Dudekula , Minoru S H Ko , Koichi Kawakami , Yutaka Suzuki , Sumio Sugano , C E Gruber , M R Smith , Blake Simmons , Troy Moore , Richard Waterman , Stephen L Johnson , Yijun Ruan , Chia Lin Wei , S Mathavan , Preethi H Gunaratne , Jiaqian Wu , Angela M Garcia , Stephen W Hulyk , Edwin Fuh , Ye Yuan , Anna Sneed , Carla Kowis , Anne Hodgson , Donna M Muzny , John McPherson , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madari , Alice C Young , Keith D Wetherby , Steven J Granite , Peggy N Kwong , Charles P Brinkley , Russell L Pearson , Gerard G Bouffard , Robert W Blakesly , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Malachi Griffith , Obi L Griffith , Martin I Krzywinski , Nancy Liao , Ryan Morin , Ryan Morrin , Diana Palmquist , Anca S Petrescu , Ursula Skalska , Duane E Smailus , Jeff M Stott , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Robert A Holt , Agnes Baross , Marco A Marra , Sandra Clifton , Kathryn A Makowski , Stephanie Bosak , Joel Malek , MGC Project Team |
2004-10-01 |
Ldlrap1,
Dnajc3,
Rnaset2a,
Btnl1,
Isg15,
Cyp3a41b,
Ly6c2,
Ccl21b,
Eif3j2,
Mup18,
Lrrc19,
Rcc1,
1700047I17Rik2,
Pcsk9,
Adat3,
Tdrd7,
Sco2,
Gpr153,
Pafah2,
Gm44504,
H6pd,
Adprhl2,
Gpn2,
Rusc2,
Stx12,
Ppp1r8,
Smpdl3b,
Fam46b,
Bsdc1,
Slc44a1,
Zfand2a,
Rubcn,
Kifc1,
Pifo,
C030017K20Rik,
Cbarp,
Rpl5,
Micalcl,
Atg14,
Lrrc8c,
Noc4l,
Nsun5,
Psph,
Trrap,
Mapre3,
Ube3c,
Tbc1d14,
Hscb,
Tyw1,
Emilin1,
Rab28,
Pot1a,
Parp11,
Tada3,
Tra2a,
Brk1,
Fbxl14,
Phrf1,
Plekha1,
Gm21975,
Ric8a,
Mob2,
Prkd2,
Ccp110,
Vrk3,
Grwd1,
Nlrp6,
Trim68,
Psip1,
Spred3,
Faap24,
Ints4,
Rrp8,
Unc45a,
Igflr1,
Sf3b3,
D8Ertd738e,
Usb1,
Champ1,
Smim19,
Exoc8,
Gadd45gip1,
Phkb,
Dohh,
Fam192a,
Enkd1,
Taf5l,
Zdhhc7,
Snapc2,
Ak6,
Gpat4,
Dcun1d2,
Ankrd10,
Cog4,
Hinfp,
Lars2,
Xylb,
Imp3,
Cmtm7
|
| 15273506 |
Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr. Opin. Pediatr. Jaak Jaeken , Hubert Carchon |
2004-08-01 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
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| 排名 | 研究人员 | 文献 |
|---|---|---|
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