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Q9Z1M7

- LARGE_MOUSE

UniProt

Q9Z1M7 - LARGE_MOUSE

Protein

Glycosyltransferase-like protein LARGE1

Gene

Large

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (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 By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. transferase activity, transferring glycosyl groups Source: UniProtKB

    GO - Biological processi

    1. glycoprotein biosynthetic process Source: UniProtKB
    2. muscle cell cellular homeostasis Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    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
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 8

    Organism-specific databases

    MGIiMGI:1342270. Large.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Large may be a cause of myodystrophy (myd), an autosomal recessive neuromuscular phenotype, probably due to abnormal post-translational modification of alpha-dystroglycan.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 756756Glycosyltransferase-like protein LARGE1PRO_0000206061Add
    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

    PaxDbiQ9Z1M7.
    PRIDEiQ9Z1M7.

    PTM databases

    PhosphoSiteiQ9Z1M7.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highest expression in heart, diaphragm and brain, where it is especially found in cerebral cortex, hippocampus, and trigeminal ganglion.1 Publication

    Developmental stagei

    Ubiquitously found at 14.5 dpc with strong expression in heart, central nervous system structures such as cerebral cortex, hippocampus, olfactory lobe, trigeminal ganglion and spinal cord. Also expressed in diaphragm and duodenum.

    Gene expression databases

    ArrayExpressiQ9Z1M7.
    BgeeiQ9Z1M7.
    CleanExiMM_LARGE.
    GenevestigatoriQ9Z1M7.

    Interactioni

    Subunit structurei

    Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin.1 Publication

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000112617.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Z1M7.
    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.
    GeneTreeiENSGT00530000063165.
    HOGENOMiHOG000231467.
    HOVERGENiHBG052308.
    InParanoidiQ9Z1M7.
    KOiK09668.
    OMAiLESQPHS.
    OrthoDBiEOG7RJPQV.
    PhylomeDBiQ9Z1M7.
    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.

    Sequencei

    Sequence statusi: Complete.

    Q9Z1M7-1 [UniParc]FASTAAdd to Basket

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    MLGICRGRRK FLAASLTLLC IPAITWIYLF AGSFEDGKPV SLSPLESQAH    50
    SPRYTASSQR ERESLEVRVR EVEEENRALR RQLSLAQGQS PAHHRGNHSK 100
    TYSMEEGTGD SENLRAGIVA GNSSECGQQP AVEKCETIHV 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 SETDVNNENL QKQLSELDED DLCYEFRRER 450
    FTVHRTHLYF LHYEFEPSAD NTDVTLVAQL SMDRLQMLEA ICKHWEGPIS 500
    LALYLSDAEA QQFLRYAQGS EVLMSRQNVG YHIVYKEGQF YPVNLLRNVA 550
    MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL 600
    RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYQ 650
    VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDA QEYEFTVLPN 700
    AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL 750
    TAENNS 756
    Length:756
    Mass (Da):87,964
    Last modified:May 1, 1999 - v1
    Checksum:i37B32E039AB8895F
    GO

    Sequence cautioni

    The sequence BAC65610.1 differs from that shown. Reason: Frameshift at position 48.
    The sequence AAH61506.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti269 – 2691L → S in AAI00400. (PubMed:12693553)Curated
    Sequence conflicti324 – 3241L → H in AAI00400. (PubMed:12693553)Curated
    Sequence conflicti441 – 4411D → N in AAI00400. (PubMed:12693553)Curated
    Sequence conflicti748 – 7481K → E in AAI00400. (PubMed:12693553)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ006278 mRNA. Translation: CAA06945.1.
    AK122328 mRNA. Translation: BAC65610.1. Frameshift.
    BC061506 mRNA. Translation: AAH61506.1. Different initiation.
    BC100399 mRNA. Translation: AAI00400.1.
    CCDSiCCDS22420.1.
    RefSeqiNP_034817.1. NM_010687.1.
    UniGeneiMm.324371.

    Genome annotation databases

    EnsembliENSMUST00000004497; ENSMUSP00000004497; ENSMUSG00000004383.
    ENSMUST00000119826; ENSMUSP00000112617; ENSMUSG00000004383.
    GeneIDi16795.
    KEGGimmu:16795.
    UCSCiuc009mgs.1. mouse.

    Cross-referencesi

    Web resourcesi

    Functional Glycomics Gateway - GTase

    Large like-glycosyltransferase

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ006278 mRNA. Translation: CAA06945.1 .
    AK122328 mRNA. Translation: BAC65610.1 . Frameshift.
    BC061506 mRNA. Translation: AAH61506.1 . Different initiation.
    BC100399 mRNA. Translation: AAI00400.1 .
    CCDSi CCDS22420.1.
    RefSeqi NP_034817.1. NM_010687.1.
    UniGenei Mm.324371.

    3D structure databases

    ProteinModelPortali Q9Z1M7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000112617.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q9Z1M7.

    Proteomic databases

    PaxDbi Q9Z1M7.
    PRIDEi Q9Z1M7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000004497 ; ENSMUSP00000004497 ; ENSMUSG00000004383 .
    ENSMUST00000119826 ; ENSMUSP00000112617 ; ENSMUSG00000004383 .
    GeneIDi 16795.
    KEGGi mmu:16795.
    UCSCi uc009mgs.1. mouse.

    Organism-specific databases

    CTDi 9215.
    MGIi MGI:1342270. Large.
    Rougei Search...

    Phylogenomic databases

    eggNOGi NOG279004.
    GeneTreei ENSGT00530000063165.
    HOGENOMi HOG000231467.
    HOVERGENi HBG052308.
    InParanoidi Q9Z1M7.
    KOi K09668.
    OMAi LESQPHS.
    OrthoDBi EOG7RJPQV.
    PhylomeDBi Q9Z1M7.
    TreeFami TF319168.

    Miscellaneous databases

    NextBioi 290662.
    PROi Q9Z1M7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Z1M7.
    Bgeei Q9Z1M7.
    CleanExi MM_LARGE.
    Genevestigatori Q9Z1M7.

    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].
      Tissue: Brain and Embryo.
    2. "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-3.
      Tissue: Embryonic stem cell and Mammary tumor.
    3. "Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H.
      DNA Res. 10:35-48(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse."
      Grewal P.K., Holzfeind P.J., Bittner R.E., Hewitt J.E.
      Nat. Genet. 28:151-154(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    5. Cited for: INTERACTION WITH DAG1.
    6. "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: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiLARGE_MOUSE
    AccessioniPrimary (citable) accession number: Q9Z1M7
    Secondary accession number(s): Q497S9, Q6P7U2, Q80TW0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 26, 2002
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3