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O95461

- LARGE_HUMAN

UniProt

O95461 - LARGE_HUMAN

Protein

Glycosyltransferase-like protein LARGE1

Gene

LARGE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit.2 Publications

    Pathwayi

    GO - Molecular functioni

    1. acetylglucosaminyltransferase activity Source: ProtInc
    2. transferase activity, transferring glycosyl groups Source: UniProtKB

    GO - Biological processi

    1. glycoprotein biosynthetic process Source: UniProtKB
    2. glycosphingolipid biosynthetic process Source: UniProtKB
    3. muscle cell cellular homeostasis Source: UniProtKB
    4. N-acetylglucosamine metabolic process Source: ProtInc
    5. protein glycosylation Source: ProtInc

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT49. Glycosyltransferase Family 49.
    GT8. Glycosyltransferase Family 8.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycosyltransferase-like protein LARGE1 (EC:2.4.-.-)
    Alternative name(s):
    Acetylglucosaminyltransferase-like 1A
    Gene namesi
    Name:LARGE
    Synonyms:KIAA0609, LARGE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:6511. LARGE.

    Subcellular locationi

    Golgi apparatus membrane 2 Publications; Single-pass type II membrane protein 2 Publications

    GO - Cellular componenti

    1. integral component of Golgi membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]: A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti509 – 5091E → K in MDDGB6. 1 Publication
    VAR_019811
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti331 – 3311S → F in MDDGA6. 1 Publication
    VAR_065064
    Natural varianti495 – 4951W → R in MDDGA6. 1 Publication
    VAR_065065

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi242 – 2443DTD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication
    Mutagenesisi334 – 3363DQD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication
    Mutagenesisi563 – 5653DID → NNN: Loss of function and abolishes subcellular location. 1 Publication

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy

    Organism-specific databases

    MIMi608840. phenotype.
    613154. phenotype.
    Orphaneti370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA30296.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 756756Glycosyltransferase-like protein LARGE1PRO_0000206060Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi148 – 1481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO95461.
    PaxDbiO95461.
    PRIDEiO95461.

    PTM databases

    PhosphoSiteiO95461.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highest expression in heart, brain and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiO95461.
    BgeeiO95461.
    CleanExiHS_LARGE.
    GenevestigatoriO95461.

    Organism-specific databases

    HPAiHPA028878.

    Interactioni

    Subunit structurei

    Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin.By similarity

    Protein-protein interaction databases

    DIPiDIP-48922N.
    STRINGi9606.ENSP00000347088.

    Structurei

    3D structure databases

    ProteinModelPortaliO95461.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1010CytoplasmicSequence Analysis
    Topological domaini32 – 756725LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei11 – 3121Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili53 – 9543Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyltransferase 8 family.Curated

    Keywords - Domaini

    Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG279004.
    HOVERGENiHBG052308.
    InParanoidiO95461.
    KOiK09668.
    OMAiLESQPHS.
    OrthoDBiEOG7RJPQV.
    PhylomeDBiO95461.
    TreeFamiTF319168.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01501. Glyco_transf_8. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95461-1) [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

    MLGICRGRRK FLAASLSLLC IPAITWIYLF SGSFEDGKPV SLSPLESQAH    50
    SPRYTASSQR ERESLEVRMR EVEEENRALR RQLSLAQGRA PSHRRGNHSK 100
    TYSMEEGTGD SENLRAGIVA GNSSECGQQP VVEKCETIHV AIVCAGYNAS 150
    RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ ILATLFQTWM VPAVRVDFYN 200
    ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV LDTDITFATD 250
    IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI 300
    LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY 350
    QLPCFWNVQL SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL 400
    YLTFLEYDGN LLRRELFGCP SEADVNSENL QKQLSELDED DLCYEFRRER 450
    FTVHRTHLYF LHYEYEPAAD STDVTLVAQL SMDRLQMLEA ICKHWEGPIS 500
    LALYLSDAEA QQFLRYAQGS EVLMSRHNVG YHIVYKEGQF YPVNLLRNVA 550
    MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL 600
    RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYR 650
    VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDV QEYEFIVLPN 700
    AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL 750
    TAENNS 756
    Length:756
    Mass (Da):88,066
    Last modified:May 1, 1999 - v1
    Checksum:iB022E118379AA17C
    GO
    Isoform 2 (identifier: O95461-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         378-429: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:704
    Mass (Da):81,846
    Checksum:i9CCD42064004C7FF
    GO

    Sequence cautioni

    The sequence BAA25535.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681R → G.
    Corresponds to variant rs470035 [ dbSNP | Ensembl ].
    VAR_013685
    Natural varianti68 – 681R → P.
    Corresponds to variant rs135311 [ dbSNP | Ensembl ].
    VAR_013686
    Natural varianti331 – 3311S → F in MDDGA6. 1 Publication
    VAR_065064
    Natural varianti495 – 4951W → R in MDDGA6. 1 Publication
    VAR_065065
    Natural varianti509 – 5091E → K in MDDGB6. 1 Publication
    VAR_019811
    Natural varianti665 – 6651R → H.
    Corresponds to variant rs1046166 [ dbSNP | Ensembl ].
    VAR_013687

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei378 – 42952Missing in isoform 2. 1 PublicationVSP_014536Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007583 mRNA. Translation: CAA07571.1.
    AB011181 mRNA. Translation: BAA25535.3. Different initiation.
    CR456510 mRNA. Translation: CAG30396.1.
    AL008630
    , AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI17950.1.
    AL008715
    , AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI17890.1.
    AL096754
    , AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18784.1.
    Z68287
    , AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18785.1.
    Z69042
    , AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18772.1.
    Z69943
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA. Translation: CAI18788.1.
    Z70288
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA. Translation: CAI18769.1.
    Z82173
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA. Translation: CAI18754.1.
    Z69943
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA. Translation: CAQ06856.1.
    AL096754
    , AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ08281.1.
    Z68287
    , AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ08801.1.
    AL008630
    , AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ09323.1.
    AL008715
    , AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ09434.1.
    Z82173
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA. Translation: CAQ09895.1.
    Z69042
    , AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ10763.1.
    Z70288
    , AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA. Translation: CAQ11002.1.
    BC117425 mRNA. Translation: AAI17426.1.
    BC126404 mRNA. Translation: AAI26405.1.
    CCDSiCCDS13912.1. [O95461-1]
    PIRiT00256.
    RefSeqiNP_004728.1. NM_004737.4. [O95461-1]
    NP_598397.1. NM_133642.3. [O95461-1]
    XP_005261888.1. XM_005261831.1. [O95461-1]
    XP_005261889.1. XM_005261832.1. [O95461-1]
    UniGeneiHs.474667.

    Genome annotation databases

    EnsembliENST00000354992; ENSP00000347088; ENSG00000133424. [O95461-1]
    ENST00000397394; ENSP00000380549; ENSG00000133424. [O95461-1]
    ENST00000402320; ENSP00000385223; ENSG00000133424. [O95461-2]
    GeneIDi9215.
    KEGGihsa:9215.
    UCSCiuc003and.4. human. [O95461-1]
    uc010gwp.3. human. [O95461-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Glycosyltransferase-like protein LARGE1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007583 mRNA. Translation: CAA07571.1 .
    AB011181 mRNA. Translation: BAA25535.3 . Different initiation.
    CR456510 mRNA. Translation: CAG30396.1 .
    AL008630
    , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI17950.1 .
    AL008715
    , AL008630 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI17890.1 .
    AL096754
    , AL008630 , AL008715 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18784.1 .
    Z68287
    , AL008630 , AL008715 , AL096754 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18785.1 .
    Z69042
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18772.1 .
    Z69943
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z70288 , Z82173 Genomic DNA. Translation: CAI18788.1 .
    Z70288
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z82173 Genomic DNA. Translation: CAI18769.1 .
    Z82173
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 Genomic DNA. Translation: CAI18754.1 .
    Z69943
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z70288 , Z82173 Genomic DNA. Translation: CAQ06856.1 .
    AL096754
    , AL008630 , AL008715 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ08281.1 .
    Z68287
    , AL008630 , AL008715 , AL096754 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ08801.1 .
    AL008630
    , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ09323.1 .
    AL008715
    , AL008630 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ09434.1 .
    Z82173
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 Genomic DNA. Translation: CAQ09895.1 .
    Z69042
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ10763.1 .
    Z70288
    , AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z82173 Genomic DNA. Translation: CAQ11002.1 .
    BC117425 mRNA. Translation: AAI17426.1 .
    BC126404 mRNA. Translation: AAI26405.1 .
    CCDSi CCDS13912.1. [O95461-1 ]
    PIRi T00256.
    RefSeqi NP_004728.1. NM_004737.4. [O95461-1 ]
    NP_598397.1. NM_133642.3. [O95461-1 ]
    XP_005261888.1. XM_005261831.1. [O95461-1 ]
    XP_005261889.1. XM_005261832.1. [O95461-1 ]
    UniGenei Hs.474667.

    3D structure databases

    ProteinModelPortali O95461.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-48922N.
    STRINGi 9606.ENSP00000347088.

    Chemistry

    ChEMBLi CHEMBL2146300.

    Protein family/group databases

    CAZyi GT49. Glycosyltransferase Family 49.
    GT8. Glycosyltransferase Family 8.

    PTM databases

    PhosphoSitei O95461.

    Proteomic databases

    MaxQBi O95461.
    PaxDbi O95461.
    PRIDEi O95461.

    Protocols and materials databases

    DNASUi 9215.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354992 ; ENSP00000347088 ; ENSG00000133424 . [O95461-1 ]
    ENST00000397394 ; ENSP00000380549 ; ENSG00000133424 . [O95461-1 ]
    ENST00000402320 ; ENSP00000385223 ; ENSG00000133424 . [O95461-2 ]
    GeneIDi 9215.
    KEGGi hsa:9215.
    UCSCi uc003and.4. human. [O95461-1 ]
    uc010gwp.3. human. [O95461-2 ]

    Organism-specific databases

    CTDi 9215.
    GeneCardsi GC22M033668.
    GeneReviewsi LARGE.
    HGNCi HGNC:6511. LARGE.
    HPAi HPA028878.
    MIMi 603590. gene.
    608840. phenotype.
    613154. phenotype.
    neXtProti NX_O95461.
    Orphaneti 370968. Congenital muscular dystrophy with intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBi PA30296.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG279004.
    HOVERGENi HBG052308.
    InParanoidi O95461.
    KOi K09668.
    OMAi LESQPHS.
    OrthoDBi EOG7RJPQV.
    PhylomeDBi O95461.
    TreeFami TF319168.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    ChiTaRSi LARGE. human.
    GeneWikii LARGE.
    GenomeRNAii 9215.
    NextBioi 34547.
    PROi O95461.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95461.
    Bgeei O95461.
    CleanExi HS_LARGE.
    Genevestigatori O95461.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF01501. Glyco_transf_8. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family."
      Peyrard M., Seroussi E., Sandberg-Nordqvist A.-C., Xie Y.-G., Han F.-Y., Fransson I., Collins J.E., Dunham I., Kost-Alimova M., Imreh S., Dumanski J.P.
      Proc. Natl. Acad. Sci. U.S.A. 96:598-603(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Lung.
    6. "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE."
      Fujimura K., Sawaki H., Sakai T., Hiruma T., Nakanishi N., Sato T., Ohkura T., Narimatsu H.
      Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    7. "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies."
      Grewal P.K., McLaughlan J.M., Moore C.J., Browning C.A., Hewitt J.E.
      Glycobiology 15:912-923(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    8. "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy."
      Brockington M., Torelli S., Prandini P., Boito C., Dolatshad N.F., Longman C., Brown S.C., Muntoni F.
      Hum. Mol. Genet. 14:657-665(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF 242-GLY--GLY-244; 334-GLY--GLY-336 AND 563-GLY--GLY-565.
    9. "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan."
      Longman C., Brockington M., Torelli S., Jimenez-Mallebrera C., Kennedy C., Khalil N., Feng L., Saran R.K., Voit T., Merlini L., Sewry C.A., Brown S.C., Muntoni F.
      Hum. Mol. Genet. 12:2853-2861(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDDGB6 LYS-509.
    10. Cited for: VARIANT MDDGA6 PHE-331.
    11. Cited for: VARIANT MDDGA6 ARG-495.

    Entry informationi

    Entry nameiLARGE_HUMAN
    AccessioniPrimary (citable) accession number: O95461
    Secondary accession number(s): B0QXZ7
    , O60348, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 26, 2002
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 125 of the entry and version 1 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 22
      Human chromosome 22: 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