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Q9UKY4

- POMT2_HUMAN

UniProt

Q9UKY4 - POMT2_HUMAN

Protein

Protein O-mannosyl-transferase 2

Gene

POMT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (20 Jun 2003)
      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.1 Publication

    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. metal ion binding Source: UniProtKB-KW

    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 2 (EC:2.4.1.109)
    Alternative name(s):
    Dolichyl-phosphate-mannose--protein mannosyltransferase 2
    Gene namesi
    Name:POMT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19743. POMT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981I → N in MDDGA2. 1 Publication
    VAR_065038
    Natural varianti353 – 3531G → S in MDDGA2. 2 Publications
    VAR_065040
    Natural varianti373 – 3731V → F in MDDGA2. 1 Publication
    VAR_065041
    Natural varianti413 – 4131R → P in MDDGA2. 1 Publication
    Corresponds to variant rs190285831 [ dbSNP | Ensembl ].
    VAR_065042
    Natural varianti444 – 4452IN → LLWQ in MDDGA2.
    VAR_065043
    Natural varianti478 – 4781H → R in MDDGA2. 1 Publication
    VAR_068968
    Natural varianti482 – 4821G → V in MDDGA2. 1 Publication
    VAR_065044
    Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
    VAR_065045
    Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
    VAR_065047
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti246 – 2461G → D in MDDGB2. 1 Publication
    VAR_065039
    Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
    VAR_065045
    Natural varianti717 – 7171F → S in MDDGB2.
    VAR_065046
    Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
    VAR_065047
    Natural varianti748 – 7481W → R in MDDGB2. 1 Publication
    VAR_065048
    Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti184 – 1841T → M in MDDGC2. 2 Publications
    VAR_065037
    Natural varianti748 – 7481W → S in MDDGC2. 1 Publication
    VAR_065049

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi613150. phenotype.
    613156. phenotype.
    613158. phenotype.
    Orphaneti206559. Autosomal recessive limb-girdle muscular dystrophy type 2N.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA134980627.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 750750Protein O-mannosyl-transferase 2PRO_0000121488Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi98 – 981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi445 – 4451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi528 – 5281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi583 – 5831N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9UKY4.
    PaxDbiQ9UKY4.
    PRIDEiQ9UKY4.

    PTM databases

    PhosphoSiteiQ9UKY4.

    Expressioni

    Tissue specificityi

    Highly expressed in testis; detected at low levels in most tissues.

    Gene expression databases

    ArrayExpressiQ9UKY4.
    BgeeiQ9UKY4.
    CleanExiHS_POMT2.
    GenevestigatoriQ9UKY4.

    Organism-specific databases

    HPAiHPA003663.

    Interactioni

    Subunit structurei

    Interacts with POMT1.Curated

    Protein-protein interaction databases

    BioGridi118991. 1 interaction.
    STRINGi9606.ENSP00000261534.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UKY4.
    SMRiQ9UKY4. Positions 337-502.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei54 – 7421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei146 – 16621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei191 – 21121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei231 – 25121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei283 – 30321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei596 – 61621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei643 – 66321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei665 – 68521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei700 – 72021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini334 – 39057MIR 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini403 – 45957MIR 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini464 – 52158MIR 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.
    HOGENOMiHOG000157526.
    HOVERGENiHBG096391.
    InParanoidiQ9UKY4.
    KOiK00728.
    OMAiWLCISRF.
    OrthoDBiEOG79KPDP.
    PhylomeDBiQ9UKY4.
    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 (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UKY4-1) [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

    MPPATGGGLA ESELRPRRGR CGPQAARAAG RDVAAEAVAR SPKRPAWGSR    50
    RFEAVGWWAL LALVTLLSFA TRFHRLDEPP HICWDETHFG KMGSYYINRT 100
    FFFDVHPPLG KMLIGLAGYL SGYDGTFLFQ KPGDKYEHHS YMGMRGFCAF 150
    LGSWLVPFAY LTVLDLSKSL SAALLTAALL TFDTGCLTLS QYILLDPILM 200
    FFIMAAMLSM VKYNSCADRP FSAPWWFWLS LTGVSLAGAL GVKFVGLFII 250
    LQVGLNTIAD LWYLFGDLSL SLVTVGKHLT ARVLCLIVLP LALYTATFAV 300
    HFMVLSKSGP GDGFFSSAFQ ARLSGNNLHN ASIPEHLAYG SVITVKNLRM 350
    AIGYLHSHRH LYPEGIGARQ QQVTTYLHKD YNNLWIIKKH NTNSDPLDPS 400
    FPVEFVRHGD IIRLEHKETS RNLHSHYHEA PMTRKHYQVT GYGINGTGDS 450
    NDFWRIEVVN RKFGNRIKVL RSRIRFIHLV TGCVLGSSGK VLPKWGWEQL 500
    EVTCTPYLKE TLNSIWNVED HINPKLPNIS LDVLQPSFPE ILLESHMVMI 550
    RGNSGLKPKD NEFTSKPWHW PINYQGLRFS GVNDTDFRVY LLGNPVVWWL 600
    NLLSIALYLL SGSIIAVAMQ RGARLPAEVA GLSQVLLRGG GQVLLGWTLH 650
    YFPFFLMGRV LYFHHYFPAM LFSSMLTGIL WDTLLRLCAW GLASWPLARG 700
    IHVAGILSLL LGTAYSFYLF HPLAYGMVGP LAQDPQSPMA GLRWLDSWDF 750
    Length:750
    Mass (Da):84,214
    Last modified:June 20, 2003 - v2
    Checksum:i79732D6C4978CFB9
    GO
    Isoform 2 (identifier: Q9UKY4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         83-750: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

    Show »
    Length:82
    Mass (Da):8,899
    Checksum:iFFC305699BA89C4F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti53 – 531E → Q in AAF14118. (PubMed:12460945)Curated
    Sequence conflicti53 – 531E → Q in AAM12046. (PubMed:12460945)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541A → E.
    Corresponds to variant rs8177536 [ dbSNP | Ensembl ].
    VAR_022083
    Natural varianti184 – 1841T → M in MDDGC2. 2 Publications
    VAR_065037
    Natural varianti198 – 1981I → N in MDDGA2. 1 Publication
    VAR_065038
    Natural varianti246 – 2461G → D in MDDGB2. 1 Publication
    VAR_065039
    Natural varianti353 – 3531G → S in MDDGA2. 2 Publications
    VAR_065040
    Natural varianti373 – 3731V → F in MDDGA2. 1 Publication
    VAR_065041
    Natural varianti413 – 4131R → P in MDDGA2. 1 Publication
    Corresponds to variant rs190285831 [ dbSNP | Ensembl ].
    VAR_065042
    Natural varianti444 – 4452IN → LLWQ in MDDGA2.
    VAR_065043
    Natural varianti478 – 4781H → R in MDDGA2. 1 Publication
    VAR_068968
    Natural varianti482 – 4821G → V in MDDGA2. 1 Publication
    VAR_065044
    Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
    VAR_065045
    Natural varianti717 – 7171F → S in MDDGB2.
    VAR_065046
    Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
    VAR_065047
    Natural varianti748 – 7481W → R in MDDGB2. 1 Publication
    VAR_065048
    Natural varianti748 – 7481W → S in MDDGC2. 1 Publication
    VAR_065049

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei83 – 750668Missing in isoform 2. 1 PublicationVSP_041457Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105020 mRNA. Translation: AAF14118.1.
    AY090480 mRNA. Translation: AAM12046.1.
    BX248027 mRNA. Translation: CAD62348.1. Sequence problems.
    AC007954 Genomic DNA. Translation: AAF62558.1.
    AC007375 Genomic DNA. Translation: AAF63184.1.
    BC031651 mRNA. Translation: AAH31651.1.
    AL353956 mRNA. Translation: CAB89256.1.
    CCDSiCCDS9857.1. [Q9UKY4-1]
    PIRiT48691.
    RefSeqiNP_037514.2. NM_013382.5. [Q9UKY4-1]
    UniGeneiHs.132989.

    Genome annotation databases

    EnsembliENST00000261534; ENSP00000261534; ENSG00000009830. [Q9UKY4-1]
    ENST00000556326; ENSP00000450630; ENSG00000009830. [Q9UKY4-2]
    GeneIDi29954.
    KEGGihsa:29954.
    UCSCiuc001xth.1. human. [Q9UKY4-1]

    Polymorphism databases

    DMDMi32171723.

    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
    AF105020 mRNA. Translation: AAF14118.1 .
    AY090480 mRNA. Translation: AAM12046.1 .
    BX248027 mRNA. Translation: CAD62348.1 . Sequence problems.
    AC007954 Genomic DNA. Translation: AAF62558.1 .
    AC007375 Genomic DNA. Translation: AAF63184.1 .
    BC031651 mRNA. Translation: AAH31651.1 .
    AL353956 mRNA. Translation: CAB89256.1 .
    CCDSi CCDS9857.1. [Q9UKY4-1 ]
    PIRi T48691.
    RefSeqi NP_037514.2. NM_013382.5. [Q9UKY4-1 ]
    UniGenei Hs.132989.

    3D structure databases

    ProteinModelPortali Q9UKY4.
    SMRi Q9UKY4. Positions 337-502.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118991. 1 interaction.
    STRINGi 9606.ENSP00000261534.

    Protein family/group databases

    CAZyi GT39. Glycosyltransferase Family 39.

    PTM databases

    PhosphoSitei Q9UKY4.

    Polymorphism databases

    DMDMi 32171723.

    Proteomic databases

    MaxQBi Q9UKY4.
    PaxDbi Q9UKY4.
    PRIDEi Q9UKY4.

    Protocols and materials databases

    DNASUi 29954.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261534 ; ENSP00000261534 ; ENSG00000009830 . [Q9UKY4-1 ]
    ENST00000556326 ; ENSP00000450630 ; ENSG00000009830 . [Q9UKY4-2 ]
    GeneIDi 29954.
    KEGGi hsa:29954.
    UCSCi uc001xth.1. human. [Q9UKY4-1 ]

    Organism-specific databases

    CTDi 29954.
    GeneCardsi GC14M077741.
    GeneReviewsi POMT2.
    H-InvDB HIX0011845.
    HGNCi HGNC:19743. POMT2.
    HPAi HPA003663.
    MIMi 607439. gene.
    613150. phenotype.
    613156. phenotype.
    613158. phenotype.
    neXtProti NX_Q9UKY4.
    Orphaneti 206559. Autosomal recessive limb-girdle muscular dystrophy type 2N.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBi PA134980627.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1928.
    HOGENOMi HOG000157526.
    HOVERGENi HBG096391.
    InParanoidi Q9UKY4.
    KOi K00728.
    OMAi WLCISRF.
    OrthoDBi EOG79KPDP.
    PhylomeDBi Q9UKY4.
    TreeFami TF300552.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    ChiTaRSi POMT2. human.
    GeneWikii POMT2.
    GenomeRNAii 29954.
    NextBioi 52659.
    PROi Q9UKY4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UKY4.
    Bgeei Q9UKY4.
    CleanExi HS_POMT2.
    Genevestigatori Q9UKY4.

    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. "Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids."
      Willer T., Amselgruber W., Deutzmann R., Strahl S.
      Glycobiology 12:771-783(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), GLYCOSYLATION, SUBCELLULAR LOCATION.
      Tissue: Cerebellum.
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Neuroblastoma.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 1).
      Tissue: Brain.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 612-750.
      Tissue: Testis.
    6. "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.
    7. Cited for: INVOLVEMENT IN MDDGA2.
    8. Cited for: VARIANTS MDDGA2 SER-353 AND GLU-726.
    9. Cited for: VARIANT MDDGC2 MET-184.
    10. Cited for: VARIANTS MDDGA2 ASN-198; PHE-373; PRO-413 AND CYS-666, VARIANTS MDDGC2 MET-184 AND SER-748.
    11. "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation."
      Yanagisawa A., Bouchet C., Van den Bergh P.Y., Cuisset J.M., Viollet L., Leturcq F., Romero N.B., Quijano-Roy S., Fardeau M., Seta N., Guicheney P.
      Neurology 69:1254-1260(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGB2 CYS-666 AND ARG-748.
    12. "POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation."
      Yanagisawa A., Bouchet C., Quijano-Roy S., Vuillaumier-Barrot S., Clarke N., Odent S., Rodriguez D., Romero N.B., Osawa M., Endo T., Taratuto A.L., Seta N., Guicheney P.
      Eur. J. Med. Genet. 52:201-206(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGA2 VAL-482; 444-ILE-ASN-445 DELINS LEU-LEU-TRP-GLN AND CYS-666.
    13. Cited for: VARIANTS MDDGB2 ASP-246; SER-353; CYS-666 AND GLU-726.
    14. Cited for: VARIANT MDDGA2 ARG-478.

    Entry informationi

    Entry nameiPOMT2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UKY4
    Secondary accession number(s): Q9NSG6, Q9P1W0, Q9P1W2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2003
    Last sequence update: June 20, 2003
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 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 14
      Human chromosome 14: 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

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