POMT1

Functionⁱ

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.2 Publications

Catalytic activityⁱ

Dolichyl D-mannosyl phosphate + protein = dolichyl phosphate + O-D-mannosylprotein.1 Publication

Activity regulationⁱ

Slightly activated by Mg²⁺ and inhibited by both Ca⁺ and Mn²⁺. EDTA ha no effect on activity in vitro.1 Publication

Pathwayⁱ: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functionⁱ

dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: GO_Central
mannosyltransferase activity
Source: ProtInc
Traceable author statementⁱ
- 10366449
metal ion binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

carbohydrate metabolic process
Source: ProtInc
Traceable author statementⁱ
- 10366449
ER-associated misfolded protein catabolic process Source: GO_Central
extracellular matrix organization Source: Ensembl
multicellular organism development
Source: ProtInc
Traceable author statementⁱ
- 10366449
positive regulation of protein O-linked glycosylation Source: Ensembl
protein O-linked glycosylation
Source: ProtInc
Traceable author statementⁱ
- 10366449

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Glycosyltransferase, Transferase
Ligand	Metal-binding

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS05428-MONOMER
BRENDAⁱ	2.4.1.109 2681
Reactomeⁱ	R-HSA-5083633 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 R-HSA-5173105 O-linked glycosylation
UniPathwayⁱ	UPA00378

Protein family/group databases

Carbohydrate-Active enZymes More...CAZyⁱ	GT39 Glycosyltransferase Family 39

CAZyⁱ

GT39 Glycosyltransferase Family 39

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Protein O-mannosyl-transferase 1 (EC:2.4.1.109) Alternative name(s): Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene namesⁱ	Name:POMT1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000130714.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9202 POMT1
MIMⁱ	607423 gene
neXtProtⁱ	NX_Q9Y6A1

Topology

Feature key	Position(s)	DescriptionActions	Length
Transmembraneⁱ	8 – 28	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	40 – 60	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	68 – 88	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	99 – 119	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	122 – 142	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	154 – 174	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	183 – 203	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	206 – 226	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	269 – 289	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	597 – 617	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	636 – 656	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	661 – 681	HelicalSequence analysisAdd BLAST	21

Keywords - Cellular componentⁱ

Endoplasmic reticulum, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_015734	76	G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.	1
Natural variantⁱVAR_065028	105	R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_065029	105	R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_065031	207	G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_022662	421	Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication	1
Natural variantⁱVAR_015735	428	V → D in MDDGA1. 1 Publication	1

Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_022661	200	A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar.		1

Keywords - Diseaseⁱ

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

DisGeNET More...DisGeNETⁱ	10585
GeneReviewsⁱ	POMT1
MalaCards human disease database More...MalaCardsⁱ	POMT1
MIMⁱ	236670 phenotype 609308 phenotype 613155 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000130714
Orphanetⁱ	86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 370959 Congenital muscular dystrophy with cerebellar involvement 370968 Congenital muscular dystrophy with intellectual disability 370980 Congenital muscular dystrophy without intellectual disability 588 Muscle-eye-brain disease 899 Walker-Warburg syndrome
PharmGKBⁱ	PA33527

Polymorphism and mutation databases

BioMutaⁱ	POMT1
DMDMⁱ	332278226

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000121484	1 – 747	Protein O-mannosyl-transferase 1Add BLAST		747

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	435	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	471	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	539	N-linked (GlcNAc...) asparagineSequence analysis	1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	Q9Y6A1
PaxDbⁱ	Q9Y6A1
PeptideAtlas More...PeptideAtlasⁱ	Q9Y6A1
PRIDEⁱ	Q9Y6A1
ProteomicsDBⁱ	86636 86637 [Q9Y6A1-2] 86638 [Q9Y6A1-3] 86639 [Q9Y6A1-4]

PTM databases

iPTMnetⁱ	Q9Y6A1
PhosphoSitePlusⁱ	Q9Y6A1

Expressionⁱ

Tissue specificityⁱ

Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

Gene expression databases

Bgeeⁱ	ENSG00000130714 Expressed in 207 organ(s), highest expression level in right testis
ExpressionAtlasⁱ	Q9Y6A1 baseline and differential
Genevisibleⁱ	Q9Y6A1 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA065252

HPAⁱ

HPA065252

Interactionⁱ

Subunit structureⁱ

Interacts with POMT2.Curated

Protein-protein interaction databases

BioGridⁱ	115834, 38 interactors
IntActⁱ	Q9Y6A1, 3 interactors
STRINGⁱ	9606.ENSP00000361302

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9Y6A1
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	318 – 381	MIR 1PROSITE-ProRule annotationAdd BLAST	64
Domainⁱ	392 – 449	MIR 2PROSITE-ProRule annotationAdd BLAST	58
Domainⁱ	453 – 513	MIR 3PROSITE-ProRule annotationAdd BLAST	61

Sequence similaritiesⁱ

Belongs to the glycosyltransferase 39 family.Curated

Keywords - Domainⁱ

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3359 Eukaryota COG1928 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144161
HOVERGENⁱ	HBG053637
InParanoidⁱ	Q9Y6A1
KEGG Orthology (KO) More...KOⁱ	K00728
OMAⁱ	WWIVKDP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G02QX
PhylomeDBⁱ	Q9Y6A1
TreeFamⁱ	TF300552

Family and domain databases

InterProⁱ	View protein in InterPro IPR027005 GlyclTrfase_39-like IPR003342 Glyco_trans_39/83 IPR036300 MIR_dom_sf IPR016093 MIR_motif IPR032421 PMT_4TMC
PANTHERⁱ	PTHR10050 PTHR10050, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02815 MIR, 1 hit PF02366 PMT, 1 hit PF16192 PMT_4TMC, 1 hit
SMARTⁱ	View protein in SMART SM00472 MIR, 3 hits
SUPFAMⁱ	SSF82109 SSF82109, 1 hit
PROSITEⁱ	View protein in PROSITE PS50919 MIR, 3 hits

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.ⁱShow all

Isoform 1 (identifier: Q9Y6A1-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY 
        60         70         80         90        100
ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP 
       110        120        130        140        150
VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS 
       160        170        180        190        200
RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA 
       210        220        230        240        250
VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM 
       260        270        280        290        300
QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS 
       310        320        330        340        350
AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM 
       360        370        380        390        400
IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM 
       410        420        430        440        450
VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN 
       460        470        480        490        500
RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR 
       510        520        530        540        550
GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ 
       560        570        580        590        600
WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW 
       610        620        630        640        650
VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN 
       660        670        680        690        700
YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA 
       710        720        730        740 
LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH

Length:747

Mass (Da):84,881

Last modified:May 3, 2011 - v3

Checksum:ⁱ6E1D26C87FF5D9C5

GO

Isoform 2 (identifier: Q9Y6A1-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
234-255: Missing.

« Hide

        10         20         30         40         50
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY 
        60         70         80         90        100
ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP 
       110        120        130        140        150
VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS 
       160        170        180        190        200
RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA 
       210        220        230        240        250
VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVCVFCHL LARAVALLVI 
       260        270        280        290        300
PVVLYLLFFY VHLILVFRSG PHDQIMSSAF QASLEGGLAR ITQGQPLEVA 
       310        320        330        340        350
FGSQVTLRNV FGKPVPCWLH SHQDTYPMIY ENGRGSSHQQ QVTCYPFKDV 
       360        370        380        390        400
NNWWIVKDPR RHQLVVSSPP RPVRHGDMVQ LVHGMTTRSL NTHDVAAPLS 
       410        420        430        440        450
PHSQEVSCYI DYNISMPAQN LWRLEIVNRG SDTDVWKTIL SEVRFVHVNT 
       460        470        480        490        500
SAVLKLSGAH LPDWGYRQLE IVGEKLSRGY HGSTVWNVEE HRYGASQEQR 
       510        520        530        540        550
ERERELHSPA QVDVSRNLSF MARFSELQWR MLALRSDDSE HKYSSSPLEW 
       560        570        580        590        600
VTLDTNIAYW LHPRTSAQIH LLGNIVIWVS GSLALAIYAL LSLWYLLRRR 
       610        620        630        640        650
RNVHDLPQDA WLRWVLAGAL CAGGWAVNYL PFFLMEKTLF LYHYLPALTF 
       660        670        680        690        700
QILLLPVVLQ HISDHLCRSQ LQRSIFSALV VAWYSSACHV SNTLRPLTYG 
       710        720 
DKSLSPHELK ALRWKDSWDI LIRKH

Show »

Length:725

Mass (Da):82,567

Checksum:ⁱB58F992ADA9DF552

GO

Isoform 3 (identifier: Q9Y6A1-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-54: Missing.
234-255: Missing.

« Hide

        10         20         30         40         50
MKQIFFLDDS GPPFGHMVLA LGGYLGGFDG NFLWNRIGAE YSSNVPVWSL 
        60         70         80         90        100
RLLPALAGAL SVPMAYQIVL ELHFSHCAAM GAALLMLIEN ALITQSRLML 
       110        120        130        140        150
LESVLIFFNL LAVLSYLKFF NCQKHSPFSL SWWFWLTLTG VACSCAVGIK 
       160        170        180        190        200
YMGVFTYVLV LGVAAVHAWH LLGDQTLSNV CVFCHLLARA VALLVIPVVL 
       210        220        230        240        250
YLLFFYVHLI LVFRSGPHDQ IMSSAFQASL EGGLARITQG QPLEVAFGSQ 
       260        270        280        290        300
VTLRNVFGKP VPCWLHSHQD TYPMIYENGR GSSHQQQVTC YPFKDVNNWW 
       310        320        330        340        350
IVKDPRRHQL VVSSPPRPVR HGDMVQLVHG MTTRSLNTHD VAAPLSPHSQ 
       360        370        380        390        400
EVSCYIDYNI SMPAQNLWRL EIVNRGSDTD VWKTILSEVR FVHVNTSAVL 
       410        420        430        440        450
KLSGAHLPDW GYRQLEIVGE KLSRGYHGST VWNVEEHRYG ASQEQRERER 
       460        470        480        490        500
ELHSPAQVDV SRNLSFMARF SELQWRMLAL RSDDSEHKYS SSPLEWVTLD 
       510        520        530        540        550
TNIAYWLHPR TSAQIHLLGN IVIWVSGSLA LAIYALLSLW YLLRRRRNVH 
       560        570        580        590        600
DLPQDAWLRW VLAGALCAGG WAVNYLPFFL MEKTLFLYHY LPALTFQILL 
       610        620        630        640        650
LPVVLQHISD HLCRSQLQRS IFSALVVAWY SSACHVSNTL RPLTYGDKSL 
       660        670 
SPHELKALRW KDSWDILIRK H

Show »

Length:671

Mass (Da):76,294

Checksum:ⁱ51114C186E12533A

GO

Isoform 4 (identifier: Q9Y6A1-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-117: Missing.
234-255: Missing.

« Hide

        10         20         30         40         50
MAYQIVLELH FSHCAAMGAA LLMLIENALI TQSRLMLLES VLIFFNLLAV 
        60         70         80         90        100
LSYLKFFNCQ KHSPFSLSWW FWLTLTGVAC SCAVGIKYMG VFTYVLVLGV 
       110        120        130        140        150
AAVHAWHLLG DQTLSNVCVF CHLLARAVAL LVIPVVLYLL FFYVHLILVF 
       160        170        180        190        200
RSGPHDQIMS SAFQASLEGG LARITQGQPL EVAFGSQVTL RNVFGKPVPC 
       210        220        230        240        250
WLHSHQDTYP MIYENGRGSS HQQQVTCYPF KDVNNWWIVK DPRRHQLVVS 
       260        270        280        290        300
SPPRPVRHGD MVQLVHGMTT RSLNTHDVAA PLSPHSQEVS CYIDYNISMP 
       310        320        330        340        350
AQNLWRLEIV NRGSDTDVWK TILSEVRFVH VNTSAVLKLS GAHLPDWGYR 
       360        370        380        390        400
QLEIVGEKLS RGYHGSTVWN VEEHRYGASQ EQRERERELH SPAQVDVSRN 
       410        420        430        440        450
LSFMARFSEL QWRMLALRSD DSEHKYSSSP LEWVTLDTNI AYWLHPRTSA 
       460        470        480        490        500
QIHLLGNIVI WVSGSLALAI YALLSLWYLL RRRRNVHDLP QDAWLRWVLA 
       510        520        530        540        550
GALCAGGWAV NYLPFFLMEK TLFLYHYLPA LTFQILLLPV VLQHISDHLC 
       560        570        580        590        600
RSQLQRSIFS ALVVAWYSSA CHVSNTLRPL TYGDKSLSPH ELKALRWKDS 

WDILIRKH

Show »

Length:608

Mass (Da):69,531

Checksum:ⁱ1A8B7C19BF49EBC2

GO

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
Q5JT03	Q5JT03_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	296	Annotation score:
Q5JT07	Q5JT07_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	218	Annotation score:
Q5JT04	Q5JT04_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	156	Annotation score:
Q5JSZ6	Q5JSZ6_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	142	Annotation score:
Q5JT05	Q5JT05_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	168	Annotation score:
Q5JT02	Q5JT02_HUMAN	Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 1	POMT1	346	Annotation score:

Sequence cautionⁱ

The sequence BAA91135 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence BAA91190 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	37	P → Q in AAH22877 (PubMed:15489334).Curated	1
Sequence conflictⁱ	143	E → K in AAD41245 (PubMed:10366449).Curated	1
Sequence conflictⁱ	147	I → V in BAG58462 (PubMed:14702039).Curated	1
Sequence conflictⁱ	178	K → E in AAH22877 (PubMed:15489334).Curated	1
Sequence conflictⁱ	377	I → V in AAH22877 (PubMed:15489334).Curated	1
Sequence conflictⁱ	665	H → L in BAC11269 (PubMed:16303743).Curated	1
Sequence conflictⁱ	696 – 697	SI → NS in AAD41245 (PubMed:10366449).Curated	2
Sequence conflictⁱ	739	S → G in BAA91135 (PubMed:14702039).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065027	65	G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar.	1
Natural variantⁱVAR_015734	76	G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.	1
Natural variantⁱVAR_065028	105	R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_065029	105	R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_065030	140	Missing in MDDGB1. 1 Publication	1
Natural variantⁱVAR_022661	200	A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar.	1
Natural variantⁱVAR_065031	207	G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication	1
Natural variantⁱVAR_034390	251	Q → R2 PublicationsCorresponds to variant dbSNP:rs2296949Ensembl.	1
Natural variantⁱVAR_034389	251	Q → W Requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs386738991Ensembl.	1
Natural variantⁱVAR_065032	285	L → F1 PublicationCorresponds to variant dbSNP:rs201073763EnsemblClinVar.	1
Natural variantⁱVAR_034391	327	V → I. Corresponds to variant dbSNP:rs4740164EnsemblClinVar.	1
Natural variantⁱVAR_022662	421	Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication	1
Natural variantⁱVAR_015735	428	V → D in MDDGA1. 1 Publication	1
Natural variantⁱVAR_034392	433	D → E. Corresponds to variant dbSNP:rs11243406EnsemblClinVar.	1
Natural variantⁱVAR_065033	522	R → K1 PublicationCorresponds to variant dbSNP:rs117985576EnsemblClinVar.	1
Natural variantⁱVAR_026697	537	S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385EnsemblClinVar.	1
Natural variantⁱVAR_065034	582	W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984EnsemblClinVar.	1
Natural variantⁱVAR_065035	590	Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986EnsemblClinVar.	1
Natural variantⁱVAR_065036	669	A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_041024	1 – 117	Missing in isoform 4. 1 PublicationAdd BLAST	117
Alternative sequenceⁱVSP_007590	1 – 54	Missing in isoform 3. 1 PublicationAdd BLAST	54
Alternative sequenceⁱVSP_007591	234 – 255	Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsAdd BLAST	22

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF095136 mRNA Translation: AAD41245.1 AF095150 AF095149 Genomic DNA Translation: AAD41246.1 AK000391 mRNA Translation: BAA91135.1 Different initiation. AK000475 mRNA Translation: BAA91190.1 Different initiation. AK295561 mRNA Translation: BAG58462.1 AK074874 mRNA Translation: BAG52022.1 AK074888 mRNA Translation: BAC11269.1 AL358781 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87978.1 BC022877 mRNA Translation: AAH22877.3 BC065268 mRNA Translation: AAH65268.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43894.1 [Q9Y6A1-2] CCDS43895.1 [Q9Y6A1-3] CCDS48045.1 [Q9Y6A1-4] CCDS6943.1 [Q9Y6A1-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001070833.1, NM_001077365.1 [Q9Y6A1-2] NP_001070834.1, NM_001077366.1 [Q9Y6A1-3] NP_001129585.1, NM_001136113.1 [Q9Y6A1-2] NP_001129586.1, NM_001136114.1 [Q9Y6A1-4] NP_009102.3, NM_007171.3 XP_005272213.1, XM_005272156.1
UniGeneⁱ	Hs.522449

Genome annotation databases

Ensemblⁱ	ENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3] ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1] ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2] ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4] ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2]
GeneIDⁱ	10585
KEGGⁱ	hsa:10585
UCSC genome browser More...UCSCⁱ	uc004cau.4 human [Q9Y6A1-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6A1	Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		218	UniRef100_Q9Y6A1
Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		296
UPI000387C3E2		HUMAN		630
UPI0000EE55CC		HUMAN		348
UPI0005CFFAE7		HUMAN		595
+1
Q9Y6A1-2	Testis tissue sperm-binding protein Li 57p		HUMAN		725	UniRef100_A0A140VKE0
Isoform 3 of Protein O-mannosyl-transferase 1		HUMAN		671
Isoform 4 of Protein O-mannosyl-transferase 1		HUMAN		608
Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		168
UPI0002065500		HUMAN		573
Q9Y6A1-3	Testis tissue sperm-binding protein Li 57p		HUMAN		725	UniRef100_A0A140VKE0
Isoform 2 of Protein O-mannosyl-transferase 1		HUMAN		725
Isoform 4 of Protein O-mannosyl-transferase 1		HUMAN		608
Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		168
UPI0002065500		HUMAN		573
Q9Y6A1-4	Testis tissue sperm-binding protein Li 57p		HUMAN		725	UniRef100_A0A140VKE0
Isoform 2 of Protein O-mannosyl-transferase 1		HUMAN		725
Isoform 3 of Protein O-mannosyl-transferase 1		HUMAN		671
Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		168
UPI0002065500		HUMAN		573

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6A1	Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		218	UniRef90_Q9Y6A1
Protein O-mannosyltransferase 1		COLAP		757
Protein O-mannosyltransferase 1		GORGO		747
POMT1 isoform 12 (Fragment)		PANTR		297
Protein O-mannosyltransferase 1		MANLE		747
+31
Q9Y6A1-2	Protein O-mannosyltransferase 1		PONAB		852	UniRef90_H2PTR0
Protein O-mannosyl-transferase 1 isoform b		CALJA		725
Protein O-mannosyltransferase 1		MACNE		725
Protein O-mannosyltransferase 1		AOTNA		725
Protein O-mannosyltransferase 1		RHIRO		725
+54
Q9Y6A1-3	Protein O-mannosyltransferase 1		PONAB		852	UniRef90_H2PTR0
Protein O-mannosyl-transferase 1 isoform b		CALJA		725
Protein O-mannosyltransferase 1		MACNE		725
Protein O-mannosyltransferase 1		AOTNA		725
Protein O-mannosyltransferase 1		RHIRO		725
+54
Q9Y6A1-4	Protein O-mannosyltransferase 1		PONAB		852	UniRef90_H2PTR0
Protein O-mannosyl-transferase 1 isoform b		CALJA		725
Protein O-mannosyltransferase 1		MACNE		725
Protein O-mannosyltransferase 1		AOTNA		725
Protein O-mannosyltransferase 1		RHIRO		725
+54

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6A1	Protein O-mannosyl-transferase 1		RAT		747	UniRef50_Q9Y6A1
Protein O-mannosyl-transferase 1		MOUSE		746
Protein O-mannosyl-transferase 1		DANRE		720
Protein O-mannosyl-transferase 1 (Fragment)		HUMAN		218
Protein O-mannosyltransferase 1		COLAP		757
+525

Entry informationⁱ

Entry nameⁱ	POMT1_HUMAN
Accessionⁱ	Q9Y6A1Primary (citable) accession number: Q9Y6A1 Secondary accession number(s): B3KQG0 Q9UNT2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	June 20, 2003
	Last sequence update:	May 3, 2011
	Last modified:	September 12, 2018
	This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

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UniProtKB - Q9Y6A1 (POMT1_HUMAN)

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Protein O-mannosyl-transferase 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

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<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

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Keywords - PTMi

Proteomic databases

PTM databases

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Gene expression databases

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Keywords - Domaini

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Computationally mapped potential isoform sequencesi

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

Pathwayⁱ: protein glycosylation

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ