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Protein

Protein O-mannosyl-transferase 1

Gene

POMT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMetal-binding

Enzyme and pathway databases

BRENDAi2.4.1.109. 2681.
ReactomeiR-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:9202. POMT1.

Subcellular locationi

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

GO - Cellular componenti

  • acrosomal vesicle Source: Ensembl
  • endoplasmic reticulum Source: ProtInc
  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • sarcoplasmic reticulum Source: Ensembl

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:rs119462983Ensembl.1
Natural variantiVAR_065030140Missing in MDDGB1. 1 Publication1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl.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:rs28941782Ensembl.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
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.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.
See also OMIM:609308
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022661200A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982Ensembl.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

PaxDbiQ9Y6A1.
PeptideAtlasiQ9Y6A1.
PRIDEiQ9Y6A1.

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. 37 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.
GeneTreeiENSGT00870000136482.
HOVERGENiHBG053637.
InParanoidiQ9Y6A1.
KOiK00728.
OMAiWWIVKDP.
OrthoDBiEOG091G02QX.
PhylomeDBiQ9Y6A1.
TreeFamiTF300552.

Family and domain databases

InterProiView protein in InterPro
IPR027005. GlyclTrfase_39-like.
IPR003342. Glyco_trans_39/83.
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:rs119462983Ensembl.1
Natural variantiVAR_01573476G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782Ensembl.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:rs119462982Ensembl.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:rs3887873Ensembl.1
Natural variantiVAR_065032285L → F1 PublicationCorresponds to variant dbSNP:rs201073763Ensembl.1
Natural variantiVAR_034391327V → I. Corresponds to variant dbSNP:rs4740164Ensembl.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:rs11243406Ensembl.1
Natural variantiVAR_065033522R → K1 PublicationCorresponds to variant dbSNP:rs117985576Ensembl.1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl.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. Translation: CAI40220.1.
AL358781 Genomic DNA. Translation: CAI40221.1.
AL358781 Genomic DNA. Translation: CAI40223.1.
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. [Q9Y6A1-1]
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: August 30, 2017
This is version 161 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