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Q9Y6A1

- POMT1_HUMAN

UniProt

Q9Y6A1 - POMT1_HUMAN

Protein

Protein O-mannosyl-transferase 1

Gene

POMT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 3 (03 May 2011)
      Previous versions | rss
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    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 phosphate D-mannose + 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

    GO - Molecular functioni

    1. dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: UniProtKB-EC
    2. mannosyltransferase activity Source: ProtInc
    3. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. extracellular matrix organization Source: Ensembl
    3. mannosylation Source: GOC
    4. multicellular organismal development Source: ProtInc
    5. protein O-linked glycosylation Source: ProtInc

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Metal-binding

    Enzyme and pathway databases

    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
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:9202. POMT1.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. acrosomal vesicle Source: Ensembl
    2. endoplasmic reticulum Source: ProtInc
    3. endoplasmic reticulum membrane Source: UniProtKB
    4. integral component of membrane Source: ProtInc
    5. sarcoplasmic reticulum Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651G → R in MDDGB1. 3 Publications
    VAR_065027
    Natural varianti140 – 1401Missing in MDDGB1. 1 Publication
    VAR_065030
    Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
    Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
    VAR_026697
    Natural varianti582 – 5821W → C in MDDGB1. 1 Publication
    VAR_065034
    Natural varianti590 – 5901Q → H in MDDGB1. 2 Publications
    VAR_065035
    Natural varianti669 – 6691A → T in MDDGB1. 1 Publication
    VAR_065036
    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 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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761G → R in MDDGA1. 1 Publication
    Corresponds to variant rs28941782 [ dbSNP | Ensembl ].
    VAR_015734
    Natural varianti105 – 1051R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065028
    Natural varianti105 – 1051R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065029
    Natural varianti207 – 2071G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065031
    Natural varianti421 – 4211Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication
    VAR_022662
    Natural varianti428 – 4281V → D in MDDGA1. 1 Publication
    VAR_015735
    Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
    Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
    VAR_026697
    Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti200 – 2001A → P in MDDGC1; a common founder mutation. 1 Publication
    VAR_022661

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi236670. phenotype.
    609308. phenotype.
    613155. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 747747Protein O-mannosyl-transferase 1PRO_0000121484Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi435 – 4351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi471 – 4711N-linked (GlcNAc...)1 Publication
    Glycosylationi539 – 5391N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9Y6A1.
    PaxDbiQ9Y6A1.
    PRIDEiQ9Y6A1.

    PTM databases

    PhosphoSiteiQ9Y6A1.

    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

    ArrayExpressiQ9Y6A1.
    BgeeiQ9Y6A1.
    GenevestigatoriQ9Y6A1.

    Interactioni

    Subunit structurei

    Interacts with POMT2.Curated

    Protein-protein interaction databases

    BioGridi115834. 2 interactions.
    IntActiQ9Y6A1. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y6A1.
    SMRiQ9Y6A1. Positions 319-476.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei40 – 6021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei68 – 8821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei99 – 11921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei122 – 14221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei183 – 20321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei269 – 28921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei597 – 61721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei636 – 65621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei661 – 68121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini318 – 38164MIR 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini392 – 44958MIR 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini453 – 51361MIR 3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyltransferase 39 family.Curated
    Contains 3 MIR domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1928.
    HOVERGENiHBG053637.
    InParanoidiQ9Y6A1.
    KOiK00728.
    OMAiLLFFYVH.
    OrthoDBiEOG79KPDP.
    PhylomeDBiQ9Y6A1.
    TreeFamiTF300552.

    Family and domain databases

    InterProiIPR027005. GlyclTrfase_39_like.
    IPR003342. Glyco_trans_39.
    IPR016093. MIR_motif.
    [Graphical view]
    PANTHERiPTHR10050. PTHR10050. 1 hit.
    PfamiPF02815. MIR. 1 hit.
    PF02366. PMT. 1 hit.
    [Graphical view]
    SMARTiSM00472. MIR. 3 hits.
    [Graphical view]
    SUPFAMiSSF82109. SSF82109. 1 hit.
    PROSITEiPS50919. MIR. 3 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY    50
    ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP 100
    VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS 150
    RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA 200
    VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM 250
    QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS 300
    AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM 350
    IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM 400
    VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN 450
    RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR 500
    GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ 550
    WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW 600
    VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN 650
    YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA 700
    LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH 747
    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 BAA91135.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA91190.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti37 – 371P → Q in AAH22877. (PubMed:15489334)Curated
    Sequence conflicti143 – 1431E → K in AAD41245. (PubMed:10366449)Curated
    Sequence conflicti147 – 1471I → V in BAG58462. (PubMed:14702039)Curated
    Sequence conflicti178 – 1781K → E in AAH22877. (PubMed:15489334)Curated
    Sequence conflicti377 – 3771I → V in AAH22877. (PubMed:15489334)Curated
    Sequence conflicti665 – 6651H → L in BAC11269. (PubMed:16303743)Curated
    Sequence conflicti696 – 6972SI → NS in AAD41245. (PubMed:10366449)Curated
    Sequence conflicti739 – 7391S → G in BAA91135. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651G → R in MDDGB1. 3 Publications
    VAR_065027
    Natural varianti76 – 761G → R in MDDGA1. 1 Publication
    Corresponds to variant rs28941782 [ dbSNP | Ensembl ].
    VAR_015734
    Natural varianti105 – 1051R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065028
    Natural varianti105 – 1051R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065029
    Natural varianti140 – 1401Missing in MDDGB1. 1 Publication
    VAR_065030
    Natural varianti200 – 2001A → P in MDDGC1; a common founder mutation. 1 Publication
    VAR_022661
    Natural varianti207 – 2071G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
    VAR_065031
    Natural varianti251 – 2511Q → R.2 Publications
    Corresponds to variant rs2296949 [ dbSNP | Ensembl ].
    VAR_034390
    Natural varianti251 – 2511Q → W Requires 2 nucleotide substitutions.
    Corresponds to variant rs3887873 [ dbSNP | Ensembl ].
    VAR_034389
    Natural varianti285 – 2851L → F.1 Publication
    VAR_065032
    Natural varianti327 – 3271V → I.
    Corresponds to variant rs4740164 [ dbSNP | Ensembl ].
    VAR_034391
    Natural varianti421 – 4211Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication
    VAR_022662
    Natural varianti428 – 4281V → D in MDDGA1. 1 Publication
    VAR_015735
    Natural varianti433 – 4331D → E.
    Corresponds to variant rs11243406 [ dbSNP | Ensembl ].
    VAR_034392
    Natural varianti522 – 5221R → K.1 Publication
    Corresponds to variant rs117985576 [ dbSNP | Ensembl ].
    VAR_065033
    Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
    Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
    VAR_026697
    Natural varianti582 – 5821W → C in MDDGB1. 1 Publication
    VAR_065034
    Natural varianti590 – 5901Q → H in MDDGB1. 2 Publications
    VAR_065035
    Natural varianti669 – 6691A → T in MDDGB1. 1 Publication
    VAR_065036

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 117117Missing in isoform 4. 1 PublicationVSP_041024Add
    BLAST
    Alternative sequencei1 – 5454Missing in isoform 3. 1 PublicationVSP_007590Add
    BLAST
    Alternative sequencei234 – 25522Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsVSP_007591Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [Q9Y6A1-2]
    uc004cav.3. human. [Q9Y6A1-1]
    uc004caw.3. human. [Q9Y6A1-3]
    uc011mck.2. human. [Q9Y6A1-4]

    Polymorphism databases

    DMDMi332278226.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS43894.1. [Q9Y6A1-2 ]
    CCDS43895.1. [Q9Y6A1-3 ]
    CCDS48045.1. [Q9Y6A1-4 ]
    CCDS6943.1. [Q9Y6A1-1 ]
    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. [Q9Y6A1-1 ]
    UniGenei Hs.522449.

    3D structure databases

    ProteinModelPortali Q9Y6A1.
    SMRi Q9Y6A1. Positions 319-476.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115834. 2 interactions.
    IntActi Q9Y6A1. 1 interaction.

    Protein family/group databases

    CAZyi GT39. Glycosyltransferase Family 39.

    PTM databases

    PhosphoSitei Q9Y6A1.

    Polymorphism databases

    DMDMi 332278226.

    Proteomic databases

    MaxQBi Q9Y6A1.
    PaxDbi Q9Y6A1.
    PRIDEi Q9Y6A1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    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.
    UCSCi uc004cau.3. human. [Q9Y6A1-2 ]
    uc004cav.3. human. [Q9Y6A1-1 ]
    uc004caw.3. human. [Q9Y6A1-3 ]
    uc011mck.2. human. [Q9Y6A1-4 ]

    Organism-specific databases

    CTDi 10585.
    GeneCardsi GC09P134378.
    GeneReviewsi POMT1.
    HGNCi HGNC:9202. POMT1.
    MIMi 236670. phenotype.
    607423. gene.
    609308. phenotype.
    613155. phenotype.
    neXtProti NX_Q9Y6A1.
    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.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1928.
    HOVERGENi HBG053637.
    InParanoidi Q9Y6A1.
    KOi K00728.
    OMAi LLFFYVH.
    OrthoDBi EOG79KPDP.
    PhylomeDBi Q9Y6A1.
    TreeFami TF300552.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    ChiTaRSi POMT1. human.
    GeneWikii POMT1.
    GenomeRNAii 10585.
    NextBioi 40189.
    PROi Q9Y6A1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6A1.
    Bgeei Q9Y6A1.
    Genevestigatori Q9Y6A1.

    Family and domain databases

    InterProi IPR027005. GlyclTrfase_39_like.
    IPR003342. Glyco_trans_39.
    IPR016093. MIR_motif.
    [Graphical view ]
    PANTHERi PTHR10050. PTHR10050. 1 hit.
    Pfami PF02815. MIR. 1 hit.
    PF02366. PMT. 1 hit.
    [Graphical view ]
    SMARTi SM00472. MIR. 3 hits.
    [Graphical view ]
    SUPFAMi SSF82109. SSF82109. 1 hit.
    PROSITEi PS50919. MIR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1."
      Perez Jurado L.A., Coloma A., Cruces J.
      Genomics 58:171-180(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, VARIANT ARG-251.
      Tissue: Fetal brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-747 (ISOFORM 1), VARIANT ARG-251.
      Tissue: Hippocampus, Ileal mucosa, Signet-ring cell carcinoma and Teratocarcinoma.
    3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 2).
      Tissue: Testis and Uterus.
    7. Cited for: FUNCTION, VARIANTS MDDGA1 ARG-76 AND ASP-428.
    8. "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."
      Manya H., Chiba A., Yoshida A., Wang X., Chiba Y., Jigami Y., Margolis R.U., Endo T.
      Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, ENZYME REGULATION, SUBCELLULAR LOCATION.
    9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-471.
      Tissue: Liver.
    10. "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG."
      Kim D.-S., Hayashi Y.K., Matsumoto H., Ogawa M., Noguchi S., Murakami N., Sakuta R., Mochizuki M., Michele D.E., Campbell K.P., Nonaka I., Nishino I.
      Neurology 62:1009-1011(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDDGA1 LEU-421 DEL.
    11. Cited for: VARIANT MDDGA1 ARG-537.
    12. "An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene."
      Balci B., Uyanik G., Dincer P., Gross C., Willer T., Talim B., Haliloglu G., Kale G., Hehr U., Winkler J., Topaloglu H.
      Neuromuscul. Disord. 15:271-275(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDDGC1 PRO-200.
    13. "The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation."
      van Reeuwijk J., Maugenre S., van den Elzen C., Verrips A., Bertini E., Muntoni F., Merlini L., Scheffer H., Brunner H.G., Guicheney P., van Bokhoven H.
      Hum. Mutat. 27:453-459(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGB1 ARG-65; MET-140 DEL; CYS-582 AND HIS-590, VARIANTS MDDGA1 CYS-105; HIS-105 AND VAL-207, VARIANTS PHE-285 AND LYS-522.
    14. Cited for: VARIANTS MDDGB1 ARG-65; HIS-590 AND THR-669.
    15. Cited for: VARIANTS MDDGB1 ARG-65 AND ARG-537.

    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 historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2003
    Last sequence update: May 3, 2011
    Last modified: October 1, 2014
    This is version 135 of the entry and version 3 of the sequence. [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

    External Data

    Dasty 3