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Q6P1M3

- L2GL2_HUMAN

UniProt

Q6P1M3 - L2GL2_HUMAN

Protein

Lethal(2) giant larvae protein homolog 2

Gene

LLGL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (18 Apr 2006)
      Previous versions | rss
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    Functioni

    Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity.1 Publication

    GO - Molecular functioni

    1. PDZ domain binding Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell cycle Source: UniProtKB-KW
    2. cell division Source: UniProtKB-KW
    3. exocytosis Source: UniProtKB-KW
    4. regulation of establishment or maintenance of cell polarity Source: UniProtKB

    Keywords - Biological processi

    Cell cycle, Cell division, Exocytosis

    Enzyme and pathway databases

    SignaLinkiQ6P1M3.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lethal(2) giant larvae protein homolog 2
    Alternative name(s):
    HGL
    Gene namesi
    Name:LLGL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6629. LLGL2.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Localized in the perinuclear structure and faintly at the cell-cell contacts sites in the interphase. Localized at the cell periphery during metaphase. Cortical localization in mitotic cells. Found in the lateral region of polarized epithelial cells.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi641 – 6411S → A: No effect on phosphorylation. 1 Publication
    Mutagenesisi645 – 6451S → A: Decrease of phosphorylation. 1 Publication
    Mutagenesisi649 – 6491S → A: Decrease of phosphorylation. 1 Publication
    Mutagenesisi653 – 6531S → A: Loss of phosphorylation. 1 Publication
    Mutagenesisi660 – 6601S → A: Decrease of phosphorylation. 1 Publication
    Mutagenesisi663 – 6631S → A: No effect on phosphorylation. 1 Publication

    Organism-specific databases

    PharmGKBiPA30397.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10201020Lethal(2) giant larvae protein homolog 2PRO_0000232728Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei653 – 6531Phosphoserine1 Publication
    Modified residuei1015 – 10151Phosphoserine1 Publication

    Post-translational modificationi

    Phosphorylated at Ser-653 by PRKCI. Phosphorylation is enhanced during cell polarization induced by calcium. Phosphorylation may occur during the cell-cell contact-induced cell polarization and may contribute to the segregation of LLGL2 from the PRKCI/aPKC and PARD6B/Par-6 complex.2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6P1M3.
    PaxDbiQ6P1M3.
    PRIDEiQ6P1M3.

    PTM databases

    PhosphoSiteiQ6P1M3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6P1M3.
    BgeeiQ6P1M3.
    CleanExiHS_LLGL2.
    GenevestigatoriQ6P1M3.

    Organism-specific databases

    HPAiHPA022913.

    Interactioni

    Subunit structurei

    Interacts with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6. The complex is enhanced during mitosis. Interacts with VPRBP.3 Publications

    Protein-protein interaction databases

    BioGridi110181. 6 interactions.
    IntActiQ6P1M3. 5 interactions.
    MINTiMINT-261325.
    STRINGi9606.ENSP00000376333.

    Structurei

    Secondary structure

    1
    1020
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi652 – 6565

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3WP0X-ray2.04B640-654[»]
    3WP1X-ray2.80A646-657[»]
    ProteinModelPortaliQ6P1M3.
    SMRiQ6P1M3. Positions 217-247, 589-621.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati36 – 6934WD 1Add
    BLAST
    Repeati76 – 11742WD 2Add
    BLAST
    Repeati132 – 16938WD 3Add
    BLAST
    Repeati193 – 22735WD 4Add
    BLAST
    Repeati233 – 26836WD 5Add
    BLAST
    Repeati282 – 32443WD 6Add
    BLAST
    Repeati332 – 36635WD 7Add
    BLAST
    Repeati388 – 46477WD 8Add
    BLAST
    Repeati508 – 58376WD 9Add
    BLAST
    Repeati592 – 65362WD 10Add
    BLAST
    Repeati713 – 76957WD 11Add
    BLAST
    Repeati778 – 83053WD 12Add
    BLAST
    Repeati835 – 88854WD 13Add
    BLAST
    Repeati902 – 92524WD 14Add
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat L(2)GL family.Curated
    Contains 14 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG289584.
    HOGENOMiHOG000115700.
    HOVERGENiHBG052711.
    InParanoidiQ6P1M3.
    KOiK06094.
    OMAiQCQPPAV.
    OrthoDBiEOG79W94C.
    PhylomeDBiQ6P1M3.
    TreeFamiTF314585.

    Family and domain databases

    Gene3Di2.130.10.10. 3 hits.
    InterProiIPR000664. Lethal2_giant.
    IPR013577. LLGL2.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF08366. LLGL. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view]
    PRINTSiPR00962. LETHAL2GIANT.
    SMARTiSM00320. WD40. 5 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 5 hits.
    PROSITEiPS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform C (identifier: Q6P1M3-1) [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

    MRRFLRPGHD PVRERLKRDL FQFNKTVEHG FPHQPSALGY SPSLRILAIG     50
    TRSGAIKLYG APGVEFMGLH QENNAVTQIH LLPGQCQLVT LLDDNSLHLW 100
    SLKVKGGASE LQEDESFTLR GPPGAAPSAT QITVVLPHSS CELLYLGTES 150
    GNVFVVQLPA FRALEDRTIS SDAVLQRLPE EARHRRVFEM VEALQEHPRD 200
    PNQILIGYSR GLVVIWDLQG SRVLYHFLSS QQLENIWWQR DGRLLVSCHS 250
    DGSYCQWPVS SEAQQPEPLR SLVPYGPFPC KAITRILWLT TRQGLPFTIF 300
    QGGMPRASYG DRHCISVIHD GQQTAFDFTS RVIGFTVLTE ADPAATFDDP 350
    YALVVLAEEE LVVIDLQTAG WPPVQLPYLA SLHCSAITCS HHVSNIPLKL 400
    WERIIAAGSR QNAHFSTMEW PIDGGTSLTP APPQRDLLLT GHEDGTVRFW 450
    DASGVCLRLL YKLSTVRVFL TDTDPNENFS AQGEDEWPPL RKVGSFDPYS 500
    DDPRLGIQKI FLCKYSGYLA VAGTAGQVLV LELNDEAAEQ AVEQVEADLL 550
    QDQEGYRWKG HERLAARSGP VRFEPGFQPF VLVQCQPPAV VTSLALHSEW 600
    RLVAFGTSHG FGLFDHQQRR QVFVKCTLHP SDQLALEGPL SRVKSLKKSL 650
    RQSFRRMRRS RVSSRKRHPA GPPGEAQEGS AKAERPGLQN MELAPVQRKI 700
    EARSAEDSFT GFVRTLYFAD TYLKDSSRHC PSLWAGTNGG TIYAFSLRVP 750
    PAERRMDEPV RAEQAKEIQL MHRAPVVGIL VLDGHSVPLP EPLEVAHDLS 800
    KSPDMQGSHQ LLVVSEEQFK VFTLPKVSAK LKLKLTALEG SRVRRVSVAH 850
    FGSRRAEDYG EHHLAVLTNL GDIQVVSLPL LKPQVRYSCI RREDVSGIAS 900
    CVFTKYGQGF YLISPSEFER FSLSTKWLVE PRCLVDSAET KNHRPGNGAG 950
    PKKAPSRARN SGTQSDGEEK QPGLVMERAL LSDERVLKEI QSTLEGDRGS 1000
    GNWRSHRAAV GCSLSNGGAE 1020
    Length:1,020
    Mass (Da):113,448
    Last modified:April 18, 2006 - v2
    Checksum:i9C36BFF9F94314B5
    GO
    Isoform A (identifier: Q6P1M3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         986-1020: VLKEIQSTLEGDRGSGNWRSHRAAVGCSLSNGGAE → AATGVHIEPPWGAASAMAEQSEWLSVQAAR

    Note: No experimental confirmation available.

    Show »
    Length:1,015
    Mass (Da):112,927
    Checksum:iF2C96A62BAA08AE4
    GO
    Isoform B (identifier: Q6P1M3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         346-356: TFDDPYALVVL → SRRASGVGAQG
         357-1020: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:356
    Mass (Da):39,668
    Checksum:i0A6C67EDFB69D544
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451R → H.1 Publication
    Corresponds to variant rs1671036 [ dbSNP | Ensembl ].
    VAR_050069
    Natural varianti479 – 4791F → L.1 Publication
    Corresponds to variant rs1671021 [ dbSNP | Ensembl ].
    VAR_050070
    Natural varianti488 – 4881P → L.
    Corresponds to variant rs35991442 [ dbSNP | Ensembl ].
    VAR_050071
    Natural varianti490 – 4901L → P.
    Corresponds to variant rs1671021 [ dbSNP | Ensembl ].
    VAR_050072
    Natural varianti748 – 7481R → H.
    Corresponds to variant rs35474687 [ dbSNP | Ensembl ].
    VAR_034058
    Natural varianti759 – 7591P → S.1 Publication
    Corresponds to variant rs1661715 [ dbSNP | Ensembl ].
    VAR_050073
    Natural varianti790 – 7901P → L.
    Corresponds to variant rs1661714 [ dbSNP | Ensembl ].
    VAR_050075
    Natural varianti1001 – 10011G → S.
    Corresponds to variant rs35886912 [ dbSNP | Ensembl ].
    VAR_034059

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei346 – 35611TFDDPYALVVL → SRRASGVGAQG in isoform B. 1 PublicationVSP_047387Add
    BLAST
    Alternative sequencei357 – 1020664Missing in isoform B. 1 PublicationVSP_047388Add
    BLAST
    Alternative sequencei986 – 102035VLKEI…NGGAE → AATGVHIEPPWGAASAMAEQ SEWLSVQAAR in isoform A. 1 PublicationVSP_017946Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X87342 mRNA. Translation: CAA60780.1.
    AC100787 Genomic DNA. No translation available.
    BC006503 mRNA. Translation: AAH06503.1.
    BC010879 mRNA. Translation: AAH10879.1.
    BC064994 mRNA. Translation: AAH64994.1.
    CCDSiCCDS11725.1. [Q6P1M3-2]
    CCDS32733.1. [Q6P1M3-1]
    CCDS45776.1. [Q6P1M3-3]
    PIRiS55474.
    RefSeqiNP_001015002.1. NM_001015002.1. [Q6P1M3-3]
    NP_001026973.1. NM_001031803.1. [Q6P1M3-1]
    NP_004515.2. NM_004524.2. [Q6P1M3-2]
    UniGeneiHs.514477.

    Genome annotation databases

    GeneIDi3993.
    KEGGihsa:3993.
    UCSCiuc002jog.1. human. [Q6P1M3-3]
    uc002joh.3. human. [Q6P1M3-1]
    uc002joi.3. human. [Q6P1M3-2]

    Polymorphism databases

    DMDMi93204600.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X87342 mRNA. Translation: CAA60780.1 .
    AC100787 Genomic DNA. No translation available.
    BC006503 mRNA. Translation: AAH06503.1 .
    BC010879 mRNA. Translation: AAH10879.1 .
    BC064994 mRNA. Translation: AAH64994.1 .
    CCDSi CCDS11725.1. [Q6P1M3-2 ]
    CCDS32733.1. [Q6P1M3-1 ]
    CCDS45776.1. [Q6P1M3-3 ]
    PIRi S55474.
    RefSeqi NP_001015002.1. NM_001015002.1. [Q6P1M3-3 ]
    NP_001026973.1. NM_001031803.1. [Q6P1M3-1 ]
    NP_004515.2. NM_004524.2. [Q6P1M3-2 ]
    UniGenei Hs.514477.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3WP0 X-ray 2.04 B 640-654 [» ]
    3WP1 X-ray 2.80 A 646-657 [» ]
    ProteinModelPortali Q6P1M3.
    SMRi Q6P1M3. Positions 217-247, 589-621.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110181. 6 interactions.
    IntActi Q6P1M3. 5 interactions.
    MINTi MINT-261325.
    STRINGi 9606.ENSP00000376333.

    PTM databases

    PhosphoSitei Q6P1M3.

    Polymorphism databases

    DMDMi 93204600.

    Proteomic databases

    MaxQBi Q6P1M3.
    PaxDbi Q6P1M3.
    PRIDEi Q6P1M3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 3993.
    KEGGi hsa:3993.
    UCSCi uc002jog.1. human. [Q6P1M3-3 ]
    uc002joh.3. human. [Q6P1M3-1 ]
    uc002joi.3. human. [Q6P1M3-2 ]

    Organism-specific databases

    CTDi 3993.
    GeneCardsi GC17P073521.
    HGNCi HGNC:6629. LLGL2.
    HPAi HPA022913.
    neXtProti NX_Q6P1M3.
    PharmGKBi PA30397.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289584.
    HOGENOMi HOG000115700.
    HOVERGENi HBG052711.
    InParanoidi Q6P1M3.
    KOi K06094.
    OMAi QCQPPAV.
    OrthoDBi EOG79W94C.
    PhylomeDBi Q6P1M3.
    TreeFami TF314585.

    Enzyme and pathway databases

    SignaLinki Q6P1M3.

    Miscellaneous databases

    ChiTaRSi LLGL2. human.
    GenomeRNAii 3993.
    NextBioi 15664.
    PROi Q6P1M3.

    Gene expression databases

    ArrayExpressi Q6P1M3.
    Bgeei Q6P1M3.
    CleanExi HS_LLGL2.
    Genevestigatori Q6P1M3.

    Family and domain databases

    Gene3Di 2.130.10.10. 3 hits.
    InterProi IPR000664. Lethal2_giant.
    IPR013577. LLGL2.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF08366. LLGL. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view ]
    PRINTSi PR00962. LETHAL2GIANT.
    SMARTi SM00320. WD40. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 5 hits.
    PROSITEi PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human homolog of the Drosophila 1(2) giant larvae tumor suppressor maps to 17q24-25."
      Wiemann S., Tommerup N., Celis J.E., Ansorge W., Leffers H.
      Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C), VARIANT HIS-45.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS A AND B), VARIANTS LEU-479 AND SER-759.
      Tissue: Lung and Testis.
    4. "Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division."
      Yasumi M., Sakisaka T., Hoshino T., Kimura T., Sakamoto Y., Yamanaka T., Ohno S., Takai Y.
      J. Biol. Chem. 280:6761-6765(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GPSM2/LGN, SUBCELLULAR LOCATION, FUNCTION.
      Tissue: Brain.
    5. "Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity."
      Yamanaka T., Horikoshi Y., Sugiyama Y., Ishiyama C., Suzuki A., Hirose T., Iwamatsu A., Shinohara A., Ohno S.
      Curr. Biol. 13:734-743(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PARD6B/PAR-6 AND PRKCI/APKC, PHOSPHORYLATION AT SER-653, MUTAGENESIS OF SER-641; SER-645; SER-649; SER-653; SER-660 AND SER-663.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1015, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: INTERACTION WITH VPRBP.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiL2GL2_HUMAN
    AccessioniPrimary (citable) accession number: Q6P1M3
    Secondary accession number(s): Q14521, Q9BR62
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: April 18, 2006
    Last modified: October 1, 2014
    This is version 101 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

    Miscellaneous

    Overexpression of LLGL2 inhibits the tight junction formation.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3