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Q8N3Y3

- LARG2_HUMAN

UniProt

Q8N3Y3 - LARG2_HUMAN

Protein

Glycosyltransferase-like protein LARGE2

Gene

GYLTL1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (01 May 2007)
      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. Has a higher activity toward alpha-dystroglycan than LARGE.2 Publications

    GO - Molecular functioni

    1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

    GO - Biological processi

    1. 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 LARGE2 (EC:2.4.-.-)
    Alternative name(s):
    Glycosyltransferase-like 1B
    Gene namesi
    Name:GYLTL1B
    Synonyms:LARGE2
    ORF Names:PP5656
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:16522. GYLTL1B.

    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

    Organism-specific databases

    PharmGKBiPA142671704.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 721721Glycosyltransferase-like protein LARGE2PRO_0000226811Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi80 – 801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi231 – 2311N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8N3Y3.
    PaxDbiQ8N3Y3.
    PRIDEiQ8N3Y3.

    PTM databases

    PhosphoSiteiQ8N3Y3.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain.2 Publications

    Gene expression databases

    ArrayExpressiQ8N3Y3.
    BgeeiQ8N3Y3.
    CleanExiHS_GYLTL1B.
    GenevestigatoriQ8N3Y3.

    Organism-specific databases

    HPAiHPA056621.

    Interactioni

    Protein-protein interaction databases

    DIPiDIP-48923N.
    IntActiQ8N3Y3. 1 interaction.
    STRINGi9606.ENSP00000324570.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N3Y3.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 88CytoplasmicSequence Analysis
    Topological domaini30 – 721692LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 8 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG279004.
    HOGENOMiHOG000231467.
    HOVERGENiHBG052308.
    InParanoidiQ8N3Y3.
    KOiK09668.
    OMAiLPCIWNV.
    OrthoDBiEOG7RJPQV.
    PhylomeDBiQ8N3Y3.
    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.

    Q8N3Y3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLPRGRPRAL GAAALLLLLL LLGFLLFGGD LGCERREPGG RAGAPGCFPG    50
    PLMPRVPPDG RLRRAAALDG DPGAGPGDHN RSDCGPQPPP PPKCELLHVA 100
    IVCAGHNSSR DVITLVKSML FYRKNPLHLH LVTDAVARNI LETLFHTWMV 150
    PAVRVSFYHA DQLKPQVSWI PNKHYSGLYG LMKLVLPSAL PAELARVIVL 200
    DTDVTFASDI SELWALFAHF SDTQAIGLVE NQSDWYLGNL WKNHRPWPAL 250
    GRGFNTGVIL LRLDRLRQAG WEQMWRLTAR RELLSLPATS LADQDIFNAV 300
    IKEHPGLVQR LPCVWNVQLS DHTLAERCYS EASDLKVIHW NSPKKLRVKN 350
    KHVEFFRNFY LTFLEYDGNL LRRELFVCPS QPPPGAEQLQ QALAQLDEED 400
    PCFEFRQQQL TVHRVHVTFL PHEPPPPRPH DVTLVAQLSM DRLQMLEALC 450
    RHWPGPMSLA LYLTDAEAQQ FLHFVEASPV LAARQDVAYH VVYREGPLYP 500
    VNQLRNVALA QALTPYVFLS DIDFLPAYSL YDYLRASIEQ LGLGSRRKAA 550
    LVVPAFETLR YRFSFPHSKV ELLALLDAGT LYTFRYHEWP RGHAPTDYAR 600
    WREAQAPYRV QWAANYEPYV VVPRDCPRYD PRFVGFGWNK VAHIVELDAQ 650
    EYELLVLPEA FTIHLPHAPS LDISRFRSSP TYRDCLQALK DEFHQDLSRH 700
    HGAAALKYLP ALQQPQSPAR G 721
    Length:721
    Mass (Da):81,787
    Last modified:May 1, 2007 - v2
    Checksum:i7E9E208AAD872344
    GO

    Sequence cautioni

    The sequence BAC03909.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAG23791.1 differs from that shown. Reason: Frameshift at positions 496, 510 and 674.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti166 – 1661Q → R in BAC04675. (PubMed:14702039)Curated
    Sequence conflicti398 – 3981E → G in BAC03909. (PubMed:14702039)Curated
    Sequence conflicti473 – 4742HF → IS in AAG23791. (PubMed:15498874)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti37 – 371E → K.1 Publication
    Corresponds to variant rs17853729 [ dbSNP | Ensembl ].
    VAR_031854
    Natural varianti546 – 5461R → W.
    Corresponds to variant rs11038713 [ dbSNP | Ensembl ].
    VAR_031855
    Natural varianti677 – 6771R → C.
    Corresponds to variant rs2271851 [ dbSNP | Ensembl ].
    VAR_025518

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK092526 mRNA. Translation: BAC03909.1. Sequence problems.
    AK096021 mRNA. Translation: BAC04675.1.
    AC068385 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68021.1.
    BC037291 mRNA. Translation: AAH37291.1.
    AF258588 mRNA. Translation: AAG23791.1. Frameshift.
    CCDSiCCDS31473.1.
    RefSeqiNP_689525.3. NM_152312.3.
    XP_005252842.1. XM_005252785.1.
    UniGeneiHs.86543.

    Genome annotation databases

    EnsembliENST00000325468; ENSP00000324570; ENSG00000165905.
    ENST00000401752; ENSP00000385235; ENSG00000165905.
    ENST00000531526; ENSP00000432869; ENSG00000165905.
    GeneIDi120071.
    KEGGihsa:120071.
    UCSCiuc001nbv.1. human.

    Polymorphism databases

    DMDMi146345450.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Glycosyltransferase-like protein LARGE2

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK092526 mRNA. Translation: BAC03909.1 . Sequence problems.
    AK096021 mRNA. Translation: BAC04675.1 .
    AC068385 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68021.1 .
    BC037291 mRNA. Translation: AAH37291.1 .
    AF258588 mRNA. Translation: AAG23791.1 . Frameshift.
    CCDSi CCDS31473.1.
    RefSeqi NP_689525.3. NM_152312.3.
    XP_005252842.1. XM_005252785.1.
    UniGenei Hs.86543.

    3D structure databases

    ProteinModelPortali Q8N3Y3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-48923N.
    IntActi Q8N3Y3. 1 interaction.
    STRINGi 9606.ENSP00000324570.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q8N3Y3.

    Polymorphism databases

    DMDMi 146345450.

    Proteomic databases

    MaxQBi Q8N3Y3.
    PaxDbi Q8N3Y3.
    PRIDEi Q8N3Y3.

    Protocols and materials databases

    DNASUi 120071.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325468 ; ENSP00000324570 ; ENSG00000165905 .
    ENST00000401752 ; ENSP00000385235 ; ENSG00000165905 .
    ENST00000531526 ; ENSP00000432869 ; ENSG00000165905 .
    GeneIDi 120071.
    KEGGi hsa:120071.
    UCSCi uc001nbv.1. human.

    Organism-specific databases

    CTDi 120071.
    GeneCardsi GC11P045943.
    H-InvDB HIX0009596.
    HGNCi HGNC:16522. GYLTL1B.
    HPAi HPA056621.
    MIMi 609709. gene.
    neXtProti NX_Q8N3Y3.
    PharmGKBi PA142671704.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG279004.
    HOGENOMi HOG000231467.
    HOVERGENi HBG052308.
    InParanoidi Q8N3Y3.
    KOi K09668.
    OMAi LPCIWNV.
    OrthoDBi EOG7RJPQV.
    PhylomeDBi Q8N3Y3.
    TreeFami TF319168.

    Miscellaneous databases

    GenomeRNAii 120071.
    NextBioi 80516.
    PROi Q8N3Y3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N3Y3.
    Bgeei Q8N3Y3.
    CleanExi HS_GYLTL1B.
    Genevestigatori Q8N3Y3.

    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. "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].
      Tissue: Kidney.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. 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], VARIANT LYS-37.
      Tissue: Brain.
    5. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-721.
    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: TISSUE SPECIFICITY.
    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.

    Entry informationi

    Entry nameiLARG2_HUMAN
    AccessioniPrimary (citable) accession number: Q8N3Y3
    Secondary accession number(s): A6NN75
    , Q8N8Y6, Q8NAK3, Q8WY62
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: May 1, 2007
    Last modified: October 1, 2014
    This is version 98 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 11
      Human chromosome 11: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3