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Q8R2R1 (POMT1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein O-mannosyl-transferase 1

EC=2.4.1.109
Alternative name(s):
Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene names
Name:Pomt1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length746 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues By similarity.

Catalytic activity

Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein.

Cofactor

Magnesium By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Developmental stage

Expressed ubiquitously at low level after E7.5. At E8.5 high levels of expression are detected throughout the neural tube, and in the dorsal aspects of the neural folds of the future midbrain region and the somites. At E9.0 high levels of expression are detected in the ventral domain of the neural tube, developing eye, floor plate, notochord, and gut endothelium. At E10.5 expression high levels of expression are detected in the dermomyotome of the somites, limb-bud mesenchyme, mantle layer of the dorsal neural tube, and developing trigeminal ganglion. Ref.2

Disruption phenotype

Mice suffer of developmental arrest around E7.5 and die between E7.5 and E9.5. Defects are observed in the formation of Reichert's membrane that are probably due to abnormal glycosylation and maturation of dystroglycan and impaired recruitment of laminin. Ref.2

Sequence similarities

Belongs to the glycosyltransferase 39 family.

Contains 3 MIR domains.

Sequence caution

The sequence BAC35577.1 differs from that shown. Reason: Frameshift at position 255.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 746746Protein O-mannosyl-transferase 1
PRO_0000121485

Regions

Transmembrane30 – 5021Helical; Potential
Transmembrane90 – 11021Helical; Potential
Transmembrane121 – 14121Helical; Potential
Transmembrane144 – 16421Helical; Potential
Transmembrane176 – 19621Helical; Potential
Transmembrane228 – 24821Helical; Potential
Transmembrane266 – 28621Helical; Potential
Transmembrane597 – 61721Helical; Potential
Transmembrane636 – 65621Helical; Potential
Transmembrane660 – 68021Helical; Potential
Domain318 – 38164MIR 1
Domain392 – 44958MIR 2
Domain453 – 51361MIR 3

Amino acid modifications

Glycosylation4351N-linked (GlcNAc...) Potential
Glycosylation4711N-linked (GlcNAc...) Potential
Glycosylation5391N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict21G → S in BAC35577. Ref.3
Sequence conflict2571R → P in AAG15588. Ref.1
Sequence conflict3181P → H in BAE22274. Ref.3
Sequence conflict3301K → E in AAG15588. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8R2R1 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 05CB97DFC79BAE0A

FASTA74685,234
        10         20         30         40         50         60 
MGSHSTGLEE TLGVLPSWLF CKMLRFLKRP LVVTVDINLN LVALTGLGLL TRLWQLSYPR 

        70         80         90        100        110        120 
AVVFDEVYYG QYISFYMKRI FFLDDSGPPF GHMLLALGGW LGGFDGNFLW NRIGAEYSSN 

       130        140        150        160        170        180 
VPIWSLRLLP ALAGALSVPM AYQIVLELHF SHGAAIGAAL LMLIENALIT QSRLMLLESI 

       190        200        210        220        230        240 
LIFFNLLAVL SYLKFFNSQT HSPFSVHWWL WLLLTGVSCS CAVGIKYMGI FTYLLVLGIA 

       250        260        270        280        290        300 
AVHAWNLIGD QTLSNMRVLS HLLARIVALL VVPVFLYLLF FYVHLMLLYR SGPHDQIMSS 

       310        320        330        340        350        360 
AFQASLEGGL ARITQGQPLE VAFGSQVTLK SVSGKPLPCW LHSHKNTYPM IYENGRGSSH 

       370        380        390        400        410        420 
QQQVTCYPFK DINNWWIVKD PGRHQLVVNN PPRPVRHGDI VQLVHGMTTR LLNTHDVAAP 

       430        440        450        460        470        480 
LSPHSQEVSC YIDYNISMPA QNLWKLDIVN RESNRDTWKT ILSEVRFVHV NTSAILKLSG 

       490        500        510        520        530        540 
AHLPDWGFRQ LEVVGEKLSP GYHESMVWNV EEHRYGKSHE QKERELELHS PTQLDISRNL 

       550        560        570        580        590        600 
SFMARFSELQ WKMLTLKNED LEHQYSSTPL EWLTLDTNIA YWLHPRTSAQ IHLLGNIVIW 

       610        620        630        640        650        660 
TSASLATVVY TLLFFWYLLR RRRSICDLPE DAWSRWVLAG ALCTGGWALN YLPFFLMERV 

       670        680        690        700        710        720 
LFLYHYLPAL TFQILLLPIV LQHASDHLCR SQLQRNVFSA LVVAWYSSAC HVSNMLRPLT 

       730        740 
YGDTSLSPGE LRALRWKDSW DILIRK 

« Hide

References

« Hide 'large scale' references
[1]"A putative mouse O-mannosyltransferase mPOMT1."
Wang X., Jigami Y.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: BALB/c.
[2]"Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality."
Willer T., Prados B., Falcon-Perez J.M., Renner-Mueller I., Przemeck G.K.H., Lommel M., Coloma A., Valero M.C., De Angelis M.H., Tanner W., Wolf E., Strahl S., Cruces J.
Proc. Natl. Acad. Sci. U.S.A. 101:14126-14131(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
Strain: Swiss Webster / NIH.
Tissue: Embryo.
[3]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6J and NOD.
Tissue: Eye, Medulla oblongata and Thymus.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: FVB/N.
Tissue: Mammary gland.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY007238 mRNA. Translation: AAG15588.1.
AY494857 mRNA. Translation: AAS76201.1.
AK053889 mRNA. Translation: BAC35577.1. Frameshift.
AK134770 mRNA. Translation: BAE22274.1.
AK153984 mRNA. Translation: BAE32295.1.
BC027325 mRNA. Translation: AAH27325.1.
RefSeqNP_660127.1. NM_145145.1.
UniGeneMm.31192.

3D structure databases

ProteinModelPortalQ8R2R1.
SMRQ8R2R1. Positions 319-518.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

CAZyGT39. Glycosyltransferase Family 39.

PTM databases

PhosphoSiteQ8R2R1.

Proteomic databases

PaxDbQ8R2R1.
PRIDEQ8R2R1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000036473; ENSMUSP00000038722; ENSMUSG00000039254.
GeneID99011.
KEGGmmu:99011.
UCSCuc008jeq.1. mouse.

Organism-specific databases

CTD10585.
MGIMGI:2138994. Pomt1.

Phylogenomic databases

eggNOGCOG1928.
GeneTreeENSGT00740000115531.
HOGENOMHOG000157526.
HOVERGENHBG053637.
InParanoidQ8R2R1.
KOK00728.
OMALLFFYVH.
OrthoDBEOG79KPDP.
PhylomeDBQ8R2R1.
TreeFamTF300552.

Enzyme and pathway databases

UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ8R2R1.
BgeeQ8R2R1.
CleanExMM_POMT1.
GenevestigatorQ8R2R1.

Family and domain databases

InterProIPR027005. GlyclTrfase_39_like.
IPR003342. Glyco_trans_39.
IPR016093. MIR_motif.
[Graphical view]
PANTHERPTHR10050. PTHR10050. 1 hit.
PfamPF02815. MIR. 1 hit.
PF02366. PMT. 1 hit.
[Graphical view]
SMARTSM00472. MIR. 3 hits.
[Graphical view]
SUPFAMSSF82109. SSF82109. 1 hit.
PROSITEPS50919. MIR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio353755.
PROQ8R2R1.
SOURCESearch...

Entry information

Entry namePOMT1_MOUSE
AccessionPrimary (citable) accession number: Q8R2R1
Secondary accession number(s): Q3UYD8 expand/collapse secondary AC list , Q64J18, Q8BPJ6, Q8BPU1, Q8R474
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: June 1, 2002
Last modified: April 16, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot