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Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_007171 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_007171.3, 116517318
Length 3146 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.
Product protein O-mannosyl-transferase 1 isoform a
Comment

Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008].


Transcript Variant: This variant (1) encodes the longest isoform (a).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_009102.3
CDS 203..2446
Misc Feature(1)224..286
Misc Feature(2)224..286
Misc Feature(3)242..2428
Misc Feature(4)260..907
Misc Feature(5)320..382
Misc Feature(6)404..466
Misc Feature(7)497..559
Misc Feature(8)566..628
Misc Feature(9)662..724
Misc Feature(10)749..811
Misc Feature(11)818..880
Misc Feature(12)1007..1069
Misc Feature(13)1163..1336
Misc Feature(14)1376..1549
Misc Feature(15)1589..1741
Misc Feature(16)1991..2053
Misc Feature(17)2108..2170
Misc Feature(18)2183..2245
Exon (1)1..172
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (2)173..324
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (3)325..431
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (4)432..482
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (5)483..629
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (6)630..741
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (7)742..807
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (8)808..967
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (9)968..1123
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (10)1124..1254
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (11)1255..1350
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (12)1351..1443
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (13)1444..1540
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (14)1541..1633
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (15)1634..1754
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (16)1755..1852
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (17)1853..1966
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (18)1967..2093
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (19)2094..2271
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Exon (20)2272..3146
Gene:POMT1
Gene Synonym:LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Translation MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQC CMRPACMGQMRMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSH QQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNL SFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKT LFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT YGDKSLSPHELKALRWKDSWDILIRKH
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Position Chain Variation Link
129+dbSNP:
129+c, gdbSNP:189805189
183+dbSNP:
183+c, tdbSNP:201733950
197+g, tdbSNP:62620173
232+a, gdbSNP:201533471
238+g, tdbSNP:201262353
244+c, tdbSNP:150937126
250+c, tdbSNP:140675984
268+g, tdbSNP:188412721
277+a, gdbSNP:199525047
280+a, gdbSNP:149554732
331+dbSNP:
331+c, tdbSNP:200465419
395+a, gdbSNP:119462983
404+c, tdbSNP:138433752
428+a, gdbSNP:28941782
448+dbSNP:
448+c, tdbSNP:148887050
503+dbSNP:
503+c, gdbSNP:199552424
512+c, tdbSNP:146982282
532+c, gdbSNP:138064523
539+g, tdbSNP:143735861
547+a, gdbSNP:147212285
587+c, tdbSNP:148095053
626+a, tdbSNP:141833028
690+dbSNP:
690+a, gdbSNP:182295674
706+g, tdbSNP:76659214
788+dbSNP:
788+a, gdbSNP:199498900
800+c, gdbSNP:119462982
864+dbSNP:
864+a, gdbSNP:150652167
872+c, tdbSNP:199916048
900+a, gdbSNP:139774354
905+c, g, tdbSNP:34872849
920+g, tdbSNP:4997217
933+c, tdbSNP:201225383
941+a, gdbSNP:4995933
953+c, tdbSNP:3887873
954+a, gdbSNP:2296949
1020+dbSNP:
1020+c, tdbSNP:139660235
1057+c, gdbSNP:201073763
1084+c, tdbSNP:191404622
1109+c, tdbSNP:119462981
1120+a, tdbSNP:118032649
1144+dbSNP:
1144+c, tdbSNP:10901065
1148+g, tdbSNP:145395372
1159+a, gdbSNP:76109289
1181+a, gdbSNP:4740164
1196+a, gdbSNP:190112934
1315+dbSNP:
1315+c, tdbSNP:3739494
1341+a, gdbSNP:201845586
1352+dbSNP:
1352+a, cdbSNP:141229412
1355+c, tdbSNP:200056620
1384+c, tdbSNP:146945848
1385+c, gdbSNP:200508760
1393+c, tdbSNP:35242383
1394+a, gdbSNP:146869947
1417+c, tdbSNP:202121299
1418+a, gdbSNP:146234177
1431+a, gdbSNP:138640226
1434+c, tdbSNP:201587241
1467+dbSNP:
1467+c, gdbSNP:149575164
1470+c, tdbSNP:201568375
1471+c, tdbSNP:144236151
1501+a, cdbSNP:11243406
1520+a, gdbSNP:142057517
1543+dbSNP:
1543+a, gdbSNP:62620174
1549+a, gdbSNP:139720304
1609+c, tdbSNP:200731790
1621+a, cdbSNP:144385159
1622+a, gdbSNP:150702948
1667..1668+dbSNP:
1667..1668+, gdbSNP:34690713
1668+g, tdbSNP:139982268
1684+c, tdbSNP:139687326
1707+a, gdbSNP:145464516
1711+c, tdbSNP:139415150
1719+c, tdbSNP:201220016
1720+a, gdbSNP:145164375
1742+c, tdbSNP:119462985
1747+c, tdbSNP:62636653
1748+a, gdbSNP:200204923
1753+a, gdbSNP:142211950
1767+dbSNP:
1767+a, gdbSNP:117985576
1778+c, tdbSNP:151183697
1787+c, tdbSNP:148790434
1793+c, tdbSNP:140398617
1813+c, gdbSNP:150367385
1839+g, tdbSNP:138825095
1866+dbSNP:
1866+c, tdbSNP:199682341
1882+c, tdbSNP:141933812
1939+c, tdbSNP:200969468
1948+c, gdbSNP:119462984
1960+a, gdbSNP:34954751
1966+c, tdbSNP:150814269
1968+dbSNP:
1968+c, tdbSNP:143003535
1972+c, gdbSNP:119462986
1995+c, tdbSNP:144338642
2008+a, gdbSNP:148758906
2018+a, gdbSNP:141582843
2061+a, gdbSNP:202140413
2063+c, tdbSNP:150899645
2075+c, gdbSNP:139494172
2091+a, gdbSNP:145021255
2098+dbSNP:
2098+c, tdbSNP:200386368
2106+a, gdbSNP:147601415
2124+c, tdbSNP:12115566
2134+c, tdbSNP:200652115
2160+c, tdbSNP:149682171
2161+a, gdbSNP:145573420
2167+c, gdbSNP:148869292
2173+a, gdbSNP:143617656
2200+c, tdbSNP:146512619
2207+a, gdbSNP:119462987
2254+c, tdbSNP:140553130
2258+a, gdbSNP:145635821
2318+dbSNP:
2318+c, tdbSNP:113633543
2328+c, tdbSNP:138171526
2329+a, gdbSNP:200916353
2335+a, cdbSNP:141895982
2336+a, gdbSNP:150209587
2347+a, gdbSNP:200603905
2351+c, tdbSNP:200179598
2365+a, c, tdbSNP:138902646
2383+a, gdbSNP:76092524
2390+a, gdbSNP:147547428
2405+c, tdbSNP:147266709
2423+g, tdbSNP:200224827
2435+c, tdbSNP:202202445
2436+a, gdbSNP:144051476
2446+a, gdbSNP:147143094
2471+c, tdbSNP:115818625
2483+a, gdbSNP:201474628
2487+c, tdbSNP:3739495
2619+c, tdbSNP:113952381
2652+a, gdbSNP:111470256
2659+c, tdbSNP:188684435
2672+c, tdbSNP:3824395
2724+c, tdbSNP:10793885
2731+a, gdbSNP:4740259
2784+g, tdbSNP:193003183
2794+c, tdbSNP:7857419
2827+a, gdbSNP:57955153
2866+c, tdbSNP:140787063
2867+a, gdbSNP:10257
2888+a, gdbSNP:188161942
2899+c, tdbSNP:11005
2974+c, gdbSNP:180998972
2975+a, gdbSNP:116005066
3053+c, tdbSNP:1052561
3081+g, tdbSNP:112845474
Gene SymbolPOMT1
Gene SynonymLGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
Chromosome9
Locus Map9q34.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001077365 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
NM_001077366 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 3, mRNA. In-stock $639.00 $590.00 15
NM_001136113 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 4, mRNA. In-stock $639.00 $590.00 15
NM_001136114 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 5, mRNA. In-stock $639.00 $590.00 15
NM_007171 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. On-demand $849.00 20
Title Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2 .
Author Akasaka-Manya,K., Manya,H., Hayashi,M. and Endo,T.
Journal Biochem. Biophys. Res. Commun. 411 (4), 721-725 (2011)
Title Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2 .
Author Manya,H., Akasaka-Manya,K., Nakajima,A., Kawakita,M. and Endo,T.
Journal J. Biochem. 147 (3), 337-344 (2010)
Title POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies .
Author Endo,T., Manya,H., Seta,N. and Guicheney,P.
Journal Meth. Enzymol. 479, 343-352 (2010)
Title Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia .
Author Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
Journal PLoS ONE 5 (7), E11493 (2010)
Title POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons .
Author Judas,M., Sedmak,G., Rados,M., Sarnavka,V., Fumic,K., Willer,T., Gross,C., Hehr,U., Strahl,S., Cuk,M. and Baric,I.
Journal Neuropediatrics 40 (1), 6-14 (2009)
Title Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity .
Author Manya,H., Chiba,A., Yoshida,A., Wang,X., Chiba,Y., Jigami,Y., Margolis,R.U. and Endo,T.
Journal Proc. Natl. Acad. Sci. U.S.A. 101 (2), 500-505 (2004)
Title Glycosylation defects: a new mechanism for muscular dystrophy? .
Author Grewal,P.K. and Hewitt,J.E.
Journal Hum. Mol. Genet. 12 (SPEC NO 2), R259-R264 (2003)
Title Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation .
Author Sabatelli,P., Columbaro,M., Mura,I., Capanni,C., Lattanzi,G., Maraldi,N.M., Beltran-Valero de Barnabe,D., van Bokoven,H., Squarzoni,S. and Merlini,L.
Journal Biochim. Biophys. Acta 1638 (1), 57-62 (2003)
Title Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome .
Author Beltran-Valero de Bernabe,D., Currier,S., Steinbrecher,A., Celli,J., van Beusekom,E., van der Zwaag,B., Kayserili,H., Merlini,L., Chitayat,D., Dobyns,W.B., Cormand,B., Lehesjoki,A.E., Cruces,J., Voit,T., Walsh,C.A., van Bokhoven,H. and Brunner,H.G.
Journal Am. J. Hum. Genet. 71 (5), 1033-1043 (2002)
Title Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1 .
Author Jurado,L.A., Coloma,A. and Cruces,J.
Journal Genomics 58 (2), 171-180 (1999)


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