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UniProtKB - Q9Y6A1 (POMT1_HUMAN)

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Protein

Protein O-mannosyl-transferase 1

Gene

POMT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Enzyme 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • ER-associated misfolded protein catabolic process Source: GO_Central
  • extracellular matrix organization Source: Ensembl
  • multicellular organism development Source: ProtInc
  • positive regulation of protein O-linked glycosylation Source: Ensembl
  • protein O-linked glycosylation Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMetal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05428-MONOMER
BRENDAi2.4.1.109 2681
ReactomeiR-HSA-5083633 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
R-HSA-5173105 O-linked glycosylation
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT39 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000130714.15
HGNCiHGNC:9202 POMT1
MIMi607423 gene
neXtProtiNX_Q9Y6A1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei597 – 617HelicalSequence analysisAdd BLAST21
Transmembranei636 – 656HelicalSequence analysisAdd BLAST21
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21

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.
See also OMIM:613155
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06502765G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar.1
Natural variantiVAR_065030140Missing in MDDGB1. 1 Publication1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984EnsemblClinVar.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986EnsemblClinVar.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987EnsemblClinVar.1
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.
See also OMIM:236670
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01573476G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.1
Natural variantiVAR_065028105R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_065029105R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_065031207G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_022662421Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication1
Natural variantiVAR_015735428V → D in MDDGA1. 1 Publication1
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.
See also OMIM:609308
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022661200A → 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

DisGeNETi10585
GeneReviewsiPOMT1
MalaCardsiPOMT1
MIMi236670 phenotype
609308 phenotype
613155 phenotype
OpenTargetsiENSG00000130714
Orphaneti86812 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
PharmGKBiPA33527

Polymorphism and mutation databases

BioMutaiPOMT1
DMDMi332278226

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001214841 – 747Protein O-mannosyl-transferase 1Add BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi435N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi471N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi539N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9Y6A1
PaxDbiQ9Y6A1
PeptideAtlasiQ9Y6A1
PRIDEiQ9Y6A1
ProteomicsDBi86636
86637 [Q9Y6A1-2]
86638 [Q9Y6A1-3]
86639 [Q9Y6A1-4]

PTM databases

iPTMnetiQ9Y6A1
PhosphoSitePlusiQ9Y6A1

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

BgeeiENSG00000130714
ExpressionAtlasiQ9Y6A1 baseline and differential
GenevisibleiQ9Y6A1 HS

Organism-specific databases

HPAiHPA065252

Interactioni

Subunit structurei

Interacts with POMT2.Curated

Protein-protein interaction databases

BioGridi115834, 38 interactors
IntActiQ9Y6A1, 2 interactors
STRINGi9606.ENSP00000361302

Structurei

3D structure databases

ProteinModelPortaliQ9Y6A1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini318 – 381MIR 1PROSITE-ProRule annotationAdd BLAST64
Domaini392 – 449MIR 2PROSITE-ProRule annotationAdd BLAST58
Domaini453 – 513MIR 3PROSITE-ProRule annotationAdd BLAST61

Sequence similaritiesi

Belongs to the glycosyltransferase 39 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3359 Eukaryota
COG1928 LUCA
GeneTreeiENSGT00910000144161
HOVERGENiHBG053637
InParanoidiQ9Y6A1
KOiK00728
OMAiWWIVKDP
OrthoDBiEOG091G02QX
PhylomeDBiQ9Y6A1
TreeFamiTF300552

Family and domain databases

InterProiView protein in InterPro
IPR027005 GlyclTrfase_39-like
IPR003342 Glyco_trans_39/83
IPR036300 MIR_dom_sf
IPR016093 MIR_motif
IPR032421 PMT_4TMC
PANTHERiPTHR10050 PTHR10050, 1 hit
PfamiView protein in Pfam
PF02815 MIR, 1 hit
PF02366 PMT, 1 hit
PF16192 PMT_4TMC, 1 hit
SMARTiView protein in SMART
SM00472 MIR, 3 hits
SUPFAMiSSF82109 SSF82109, 1 hit
PROSITEiView protein in PROSITE
PS50919 MIR, 3 hits

Sequences (4)i

Sequence statusi: Complete.

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

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9Y6A1-1) [UniParc]FASTAAdd 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]FASTAAdd to basket

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

Show »
Length:725
Mass (Da):82,567
Checksum:iB58F992ADA9DF552
GO
Isoform 3 (identifier: Q9Y6A1-3) [UniParc]FASTAAdd to basket

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

Show »
Length:671
Mass (Da):76,294
Checksum:i51114C186E12533A
GO
Isoform 4 (identifier: Q9Y6A1-4) [UniParc]FASTAAdd to basket

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

Show »
Length:608
Mass (Da):69,531
Checksum:i1A8B7C19BF49EBC2
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37P → Q in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti143E → K in AAD41245 (PubMed:10366449).Curated1
Sequence conflicti147I → V in BAG58462 (PubMed:14702039).Curated1
Sequence conflicti178K → E in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti377I → V in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti665H → L in BAC11269 (PubMed:16303743).Curated1
Sequence conflicti696 – 697SI → NS in AAD41245 (PubMed:10366449).Curated2
Sequence conflicti739S → G in BAA91135 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06502765G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar.1
Natural variantiVAR_01573476G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.1
Natural variantiVAR_065028105R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_065029105R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_065030140Missing in MDDGB1. 1 Publication1
Natural variantiVAR_022661200A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar.1
Natural variantiVAR_065031207G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_034390251Q → R2 PublicationsCorresponds to variant dbSNP:rs2296949Ensembl.1
Natural variantiVAR_034389251Q → W Requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs386738991Ensembl.1
Natural variantiVAR_065032285L → F1 PublicationCorresponds to variant dbSNP:rs201073763EnsemblClinVar.1
Natural variantiVAR_034391327V → I. Corresponds to variant dbSNP:rs4740164EnsemblClinVar.1
Natural variantiVAR_022662421Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication1
Natural variantiVAR_015735428V → D in MDDGA1. 1 Publication1
Natural variantiVAR_034392433D → E. Corresponds to variant dbSNP:rs11243406EnsemblClinVar.1
Natural variantiVAR_065033522R → K1 PublicationCorresponds to variant dbSNP:rs117985576EnsemblClinVar.1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385EnsemblClinVar.1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984EnsemblClinVar.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986EnsemblClinVar.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0410241 – 117Missing in isoform 4. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_0075901 – 54Missing in isoform 3. 1 PublicationAdd BLAST54
Alternative sequenceiVSP_007591234 – 255Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF095136 mRNA Translation: AAD41245.1
AF095150
, AF095138, AF095139, AF095140, AF095141, AF095142, AF095143, AF095144, AF095145, AF095146, AF095147, AF095148, 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
CCDSiCCDS43894.1 [Q9Y6A1-2]
CCDS43895.1 [Q9Y6A1-3]
CCDS48045.1 [Q9Y6A1-4]
CCDS6943.1 [Q9Y6A1-1]
RefSeqiNP_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
UniGeneiHs.522449

Genome annotation databases

EnsembliENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3]
ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1]
ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2]
ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4]
ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2]
GeneIDi10585
KEGGihsa:10585
UCSCiuc004cau.4 human [Q9Y6A1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPOMT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6A1
Secondary accession number(s): B3KQG0
, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 3, 2011
Last modified: July 18, 2018
This is version 168 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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