Details for: POMT1
Associated with
Other Information
Genular Protein ID: 838941427
Symbol: POMT1_HUMAN
Name: Protein O-mannosyl-transferase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10366449
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.
PubMed ID: 10366449
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16303743
Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
PubMed ID: 16303743
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12369018
Title: Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
PubMed ID: 12369018
DOI: 10.1086/342975
PubMed ID: 14699049
Title: Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
PubMed ID: 14699049
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 28512129
Title: Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.
PubMed ID: 28512129
PubMed ID: 15037715
Title: POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
PubMed ID: 15037715
PubMed ID: 15637732
Title: Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
PubMed ID: 15637732
DOI: 10.1002/ajmg.a.30487
PubMed ID: 15792865
Title: An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
PubMed ID: 15792865
PubMed ID: 16575835
Title: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
PubMed ID: 16575835
DOI: 10.1002/humu.20313
PubMed ID: 16717220
Title: Expanding the clinical spectrum of POMT1 phenotype.
PubMed ID: 16717220
PubMed ID: 19299310
Title: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PubMed ID: 19299310
Sequence Information:
- Length: 747
- Mass: 84881
- Checksum: 6E1D26C87FF5D9C5
- Sequence:
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH
Genular Protein ID: 3279543660
Symbol: A0A140VKE0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 725
- Mass: 82567
- Checksum: B58F992ADA9DF552
- Sequence:
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVCVFCHL LARAVALLVI PVVLYLLFFY VHLILVFRSG PHDQIMSSAF QASLEGGLAR ITQGQPLEVA FGSQVTLRNV FGKPVPCWLH SHQDTYPMIY ENGRGSSHQQ QVTCYPFKDV NNWWIVKDPR RHQLVVSSPP RPVRHGDMVQ LVHGMTTRSL NTHDVAAPLS PHSQEVSCYI DYNISMPAQN LWRLEIVNRG SDTDVWKTIL SEVRFVHVNT SAVLKLSGAH LPDWGYRQLE IVGEKLSRGY HGSTVWNVEE HRYGASQEQR ERERELHSPA QVDVSRNLSF MARFSELQWR MLALRSDDSE HKYSSSPLEW VTLDTNIAYW LHPRTSAQIH LLGNIVIWVS GSLALAIYAL LSLWYLLRRR RNVHDLPQDA WLRWVLAGAL CAGGWAVNYL PFFLMEKTLF LYHYLPALTF QILLLPVVLQ HISDHLCRSQ LQRSIFSALV VAWYSSACHV SNTLRPLTYG DKSLSPHELK ALRWKDSWDI LIRKH
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.