POMT1
entrez
10585
canonical
uniprot
Q9Y6A1
canonical
ensembl
ENSG00000130714
resolver
ensp
ENSP00000343034
resolver
ensp
ENSP00000361294
resolver
ensp
ENSP00000361302
resolver
ensp
ENSP00000385797
resolver
ensp
ENSP00000502936
resolver
ensp
ENSP00000503281
resolver
ensp
ENSP00000503356
resolver
ensp
ENSP00000503552
resolver
ensp
ENSP00000503696
resolver
ensp
ENSP00000503772
resolver
ensp
ENSP00000625431
resolver
enst
ENST00000372220
resolver
enst
ENST00000677029
resolver
enst
ENST00000677626
resolver
enst
ENST00000678303
resolver
genesymbol
POMT1
resolver
hgnc
HGNC:9202
resolver
uniprot
A0A140VKE0
resolver
uniprot
A0A7I2V2K0
resolver
uniprot
A0A7I2V3Y1
resolver
uniprot
A0A7I2V445
resolver
uniprot
B3KQG0
resolver
uniprot
B4DIF0
resolver
uniprot
B4DTW4
resolver
uniprot
Q5JT01
resolver
uniprot
Q5JT02
resolver
uniprot
Q5JT06
resolver
uniprot
Q5JT08
resolver
uniprot
Q8NC91
resolver
uniprot
Q8TCA9
resolver
uniprot
Q9NX32
resolver
uniprot
Q9NX82
resolver
uniprot
Q9UNT2
resolver
uniprot_entry
A0A140VKE0_HUMAN
resolver
uniprot_entry
A0A7I2V2K0_HUMAN
resolver
uniprot_entry
A0A7I2V3Y1_HUMAN
resolver
uniprot_entry
A0A7I2V445_HUMAN
resolver
uniprot_entry
B4DTW4_HUMAN
resolver
uniprot_entry
POMT1_HUMAN
resolver
uniprot_entry
Q5JT02_HUMAN
resolver
uniprot_sec
B3KQG0
resolver
uniprot_sec
B4DIF0
resolver
uniprot_sec
Q5JT01
resolver
uniprot_sec
Q5JT06
resolver
uniprot_sec
Q5JT08
resolver
uniprot_sec
Q8NC91
resolver
uniprot_sec
Q8TCA9
resolver
uniprot_sec
Q9NX32
resolver
uniprot_sec
Q9NX82
resolver
uniprot_sec
Q9UNT2
resolver
activity_regulation
ACTIVITY REGULATION: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro. {ECO:0000269|PubMed:14699049}.
uniprot
proteins
amino_acid_sequence
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. {ECO:0000269|PubMed:16575835, ECO:0000269|PubMed:16717220, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:12369018, ECO:0000269|PubMed:15037715, ECO:0000269|PubMed:15637732, ECO:0000269|PubMed:16575835}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild intellectual disability without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. {ECO:0000269|PubMed:15792865}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.109
uniprot
proteins
function
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 (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129). {ECO:0000269|PubMed:12369018, ECO:0000269|PubMed:14699049, ECO:0000269|PubMed:28512129}.
uniprot
proteins
mass_dalton
84881
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
Glycosyltransferase 39 family
uniprot
proteins
pubmed
10366449
uniprot
proteins
pubmed
12369018
uniprot
proteins
pubmed
14699049
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15037715
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15637732
uniprot
proteins
pubmed
15792865
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16575835
uniprot
proteins
pubmed
16717220
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19299310
uniprot
proteins
pubmed
28512129
uniprot
proteins
sequence_length
747
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14699049}; Multi-pass membrane protein {ECO:0000269|PubMed:14699049}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 99..119; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 154..174; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 183..203; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 269..289; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 597..617; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 636..656; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 661..681; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins