Gene name:
POMGNT1 (UNQ746/PRO1475;MGAT1.2) ;
Protein name:
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) ;
Alternative:
UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2 (GnT I.2) ;
Organism:
Human (Homo sapiens).
General Annotation
Function:
Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
Subcellular Location:
Golgi apparatus membrane
Single-pass type II membrane protein
Protein Attributes:
50:
MDDWKPSPLI | KPFGARKKRS | WYLTWKYKLT | NQRALRRFCQ | TGAVLFLLVT |
100:
VIVNIKLILD | TRRAISEANE | DPEPEQDYDE | ALGRLEPPRR | RGSGPRRVLD |
150:
VEVYSSRSKV | YVAVDGTTVL | EDEAREQGRG | IHVIVLNQAT | GHVMAKRVFD |
200:
TYSPHEDEAM | VLFLNMVAPG | RVLICTVKDE | GSFHLKDTAK | ALLRSLGSQA |
250:
GPALGWRDTW | AFVGRKGGPV | FGEKHSKSPA | LSSWGDPVLL | KTDVPLSSAE |
300:
EAECHWADTE | LNRRRRRFCS | KVEGYGSVCS | CKDPTPIEFS | PDPLPDNKVL |
350:
NVPVAVIAGN | RPNYLYRMLR | SLLSAQGVSP | QMITVFIDGY | YEEPMDVVAL |
400:
FGLRGIQHTP | ISIKNARVSQ | HYKASLTATF | NLFPEAKFAV | VLEEDLDIAV |
450:
DFFSFLSQSI | HLLEEDDSLY | CISAWNDQGY | EHTAEDPALL | YRVETMPGLG |
500:
WVLRRSLYKE | ELEPKWPTPE | KLWDWDMWMR | MPEQRRGREC | IIPDVSRSYH |
550:
FGIVGLNMNG | YFHEAYFKKH | KFNTVPGVQL | RNVDSLKKEA | YEVEVHRLLS |
600:
EAEVLDHSKN | PCEDSFLPDT | EGHTYVAFIR | MEKDDDFTTW | TQLAKCLHIW |
650:
DLDVRGNHRG | LWRLFRKKNH | FLMVGVPASP | YSVKKPPSVT | PIFLEPPPKE |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Bovine
Mouse
ELISA Kit for Human POMGnT1
ELISA Kit for Human POMGnT1
ELISA Kit for Human POMGnT1
ELISA Kit for Human POMGnT1
CLIA Kit for Human POMGnT1
CLIA Kit for Human POMGnT1
CLIA Kit for Human POMGnT1
CLIA Kit for Human POMGnT1
Polyclonal Antibody for Human POMGnT1
Polyclonal Antibody for Human POMGnT1
Polyclonal Antibody for Human POMGnT1
Polyclonal Antibody for Human POMGnT1
Monoclonal Antibody for Human POMGnT1
Monoclonal Antibody for Human POMGnT1
Monoclonal Antibody for Human POMGnT1
Monoclonal Antibody for Human POMGnT1
Protein for Human POMGnT1
Protein for Human POMGnT1
Protein for Human POMGnT1
Protein for Human POMGnT1
R&D Technical Data
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Precision
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Recovery
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Linearity
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);TISSUE SPECIFICITY;BIOPHYSICOCHEMICAL PROPERTIES;VARIANTS MDDGA3 ARG-493 AND ASN-550;VARIANT VAL-623;FUNCTION;CATALYTIC ACTIVITY
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS MDDGA3 LYS-223 AND TYR-269;VARIANT VAL-623
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
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,
Miller J.R.
,
Flanigan M.J.
,
Edwards N.J.
,
Bolanos R.
,
Fasulo D.
,
Halldorsson B.V.
,
Hannenhalli S.
,
Turner R.
,
Yooseph S.
,
Lu F.
,
Nusskern D.R.
,
Shue B.C.
,
Zheng X.H.
,
Zhong F.
,
Delcher A.L.
,
Huson D.H.
,
Kravitz S.A.
,
Mouchard L.
,
Reinert K.
,
Remington K.A.
,
Clark A.G.
,
Waterman M.S.
,
Eichler E.E.
,
Adams M.D.
,
Hunkapiller M.W.
,
Myers E.W.
,
Venter J.C.
more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT VAL-623
7.
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS VAL-250 AND VAL-623
tissue :
Placenta .
8.
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 84-660 (ISOFORM 1);TISSUE SPECIFICITY;BIOPHYSICOCHEMICAL PROPERTIES;VARIANT VAL-623
tissue :
Brain .
9.
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Cited for : UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-537 AND LYS-538
tissue :
Mammary cancer .
10.
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Cited for : CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223; TYR-269 AND ARG-493
11.
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Cited for : IDENTIFICATION OF CATALYTIC DOMAIN;CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223 AND TYR-269
12.
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Cited for : VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442
13.
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Cited for : VARIANTS MDDGA3 SER-425 AND TYR-490
14.
"POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum."
Biancheri R.
,
Bertini E.
,
Falace A.
,
Pedemonte M.
,
Rossi A.
,
D'Amico A.
,
Scapolan S.
,
Bergamino L.
,
Petrini S.
,
Cassandrini D.
,
Broda P.
,
Manfredi M.
,
Zara F.
,
Santorelli F.M.
,
Minetti C.
,
Bruno C.
Arch. Neurol.63:1491-1495(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MDDGA3 ARG-198 AND TYR-490;VARIANT MDDGB3 GLN-311
15.
"Brain involvement in muscular dystrophies with defective dystroglycan glycosylation."
Clement E.
,
Mercuri E.
,
Godfrey C.
,
Smith J.
,
Robb S.
,
Kinali M.
,
Straub V.
,
Bushby K.
,
Manzur A.
,
Talim B.
,
Cowan F.
,
Quinlivan R.
,
Klein A.
,
Longman C.
,
McWilliam R.
,
Topaloglu H.
,
Mein R.
,
Abbs S.
,
North K.
,
Barkovich A.J.
,
Rutherford M.
,
Muntoni F.
more...
Ann. Neurol.64:573-582(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427;VARIANT MDDGB3 TYR-490
16.
"Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant."
Clement E.M.
,
Godfrey C.
,
Tan J.
,
Brockington M.
,
Torelli S.
,
Feng L.
,
Brown S.C.
,
Jimenez-Mallebrera C.
,
Sewry C.A.
,
Longman C.
,
Mein R.
,
Abbs S.
,
Vajsar J.
,
Schachter H.
,
Muntoni F.
Arch. Neurol.65:137-141(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANT MDDGC3 ASN-556;CHARACTERIZATION OF VARIANT MDDGC3 ASN-556
17.
"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study."
Mercuri E.
,
Messina S.
,
Bruno C.
,
Mora M.
,
Pegoraro E.
,
Comi G.P.
,
D'Amico A.
,
Aiello C.
,
Biancheri R.
,
Berardinelli A.
,
Boffi P.
,
Cassandrini D.
,
Laverda A.
,
Moggio M.
,
Morandi L.
,
Moroni I.
,
Pane M.
,
Pezzani R.
,
Pichiecchio A.
,
Pini A.
,
Minetti C.
,
Mongini T.
,
Mottarelli E.
,
Ricci E.
,
Ruggieri A.
,
Saredi S.
,
Scuderi C.
,
Tessa A.
,
Toscano A.
,
Tortorella G.
,
Trevisan C.P.
,
Uggetti C.
,
Vasco G.
,
Santorelli F.M.
,
Bertini E.
more...
Neurology72:1802-1809(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANT MDDGB3 PRO-605