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Identification
HMDB Protein ID HMDBP00946
Secondary Accession Numbers
  • 6234
Name Protein O-mannosyl-transferase 1
Synonyms
  1. Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene Name POMT1
Protein Type Unknown
Biological Properties
General Function Involved in mannosyltransferase activity
Specific Function Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.
Pathways
  • Other types of O-glycan biosynthesis
  • protein glycosylation
Reactions
Dolichyl phosphate D-mannose + protein → Dolichol-20 + O-D-mannosylprotein details
Dolichyl phosphate D-mannose + Protein serine → Dolichyl phosphate + details
GO Classification
Biological Process
multicellular organismal development
extracellular matrix organization
protein O-linked glycosylation
Cellular Component
endoplasmic reticulum membrane
sarcoplasmic reticulum
acrosomal vesicle
integral to membrane
Component
membrane
cell part
Function
catalytic activity
transferase activity
mannosyltransferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Molecular Function
metal ion binding
mannosyltransferase activity
dolichyl-phosphate-mannose-protein mannosyltransferase activity
Process
metabolic process
macromolecule metabolic process
protein amino acid o-linked glycosylation
macromolecule modification
protein modification process
protein amino acid glycosylation
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 9
Locus 9q34.1
SNPs POMT1
Gene Sequence
>2244 bp
ATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTG
GCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTG
GTTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTC
TTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTTATTTAGGA
GGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGAATACAGTAGCAACGTGCCT
GTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTAC
CAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATG
CTTATCAAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATA
TTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGC
CCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCA
GTGGGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTC
CATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGC
TGCATGAGGCCGGCCTGTATGGGGCAGATGCGGATGTCACAGGGGGTCTGTGTGTTCTGT
CACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTC
TTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGT
GCCTTCCAGGCCAGCTTAGAGGGAGGACTAGCTCGGATCACCCAGGGTCAGCCACTGGAG
GTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGG
CTTCATTCCCACCAGGACACCTACCCCATGATATATGAGAACGGCCGAGGCAGCTCCCAC
CAGCAACAGGTGACCTGTTACCCCTTCAAAGACGTCAATAACTGGTGGATTGTAAAGGAT
CCCAGGAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATG
GTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGCATGATGTTGCAGCCCCC
CTGAGCCCCCATTCACAGGAGGTCTCCTGCTACATTGACTATAACATCTCCATGCCCGCC
CAGAACCTCTGGAGACTGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACC
ATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGCTGAGCGGG
GCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGG
GGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGCCAGGAG
CAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTC
AGCTTCATGGCGAGATTCTCGGAGCTGCAGTGGAGGATGCTGGCGCTGAGAAGTGATGAC
TCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCC
TACTGGCTGCACCCCAGGACCAGCGCTCAGATCCACCTACTTGGAAACATAGTGATCTGG
GTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGA
CGGCGAAGAAATGTCCATGACCTCCCTCAGGATGCCTGGCTGCGCTGGGTGCTGGCTGGG
GCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACA
CTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTC
CTGCAGCACATCAGCGACCACCTGTGCAGGTCCCAGCTCCAGAGGAATTCTTTCAGCGCC
CTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACC
TACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGG
GACATCTTGATCCGAAAACACTAG
Protein Properties
Number of Residues 747
Molecular Weight 82566.18
Theoretical pI 8.509
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Protein O-mannosyl-transferase 1
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQC
CMRPACMGQMRMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS
AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSH
QQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNL
SFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW
VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKT
LFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
YGDKSLSPHELKALRWKDSWDILIRKH
GenBank ID Protein 5257116
UniProtKB/Swiss-Prot ID Q9Y6A1
UniProtKB/Swiss-Prot Entry Name POMT1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF095136
GeneCard ID POMT1
GenAtlas ID POMT1
HGNC ID HGNC:9202
References
General References
  1. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218 ]
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  5. Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. DNA Res. 2005;12(2):117-26. [PubMed:16303743 ]
  6. Jurado LA, Coloma A, Cruces J: 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. Genomics. 1999 Jun 1;58(2):171-80. [PubMed:10366449 ]
  7. Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T: Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):500-5. Epub 2003 Dec 29. [PubMed:14699049 ]
  8. 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 WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG: Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov;71(5):1033-43. Epub 2002 Oct 4. [PubMed:12369018 ]
  9. Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I: POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. Neurology. 2004 Mar 23;62(6):1009-11. [PubMed:15037715 ]
  10. Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA: Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15;133A(1):53-7. [PubMed:15637732 ]
  11. Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H: 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. Neuromuscul Disord. 2005 Apr;15(4):271-5. [PubMed:15792865 ]