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Q15334

- L2GL1_HUMAN

UniProt

Q15334 - L2GL1_HUMAN

Protein

Lethal(2) giant larvae protein homolog 1

Gene

LLGL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (22 Sep 2009)
      Previous versions | rss
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    Functioni

    Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein kinase binding Source: UniProtKB
    3. Rab GTPase activator activity Source: UniProtKB
    4. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. axonogenesis Source: UniProtKB
    2. cortical actin cytoskeleton organization Source: UniProtKB
    3. exocytosis Source: UniProtKB-KW
    4. Golgi to plasma membrane transport Source: UniProtKB
    5. maintenance of apical/basal cell polarity Source: Ensembl
    6. positive regulation of Rab GTPase activity Source: GOC
    7. protein complex assembly Source: UniProtKB

    Keywords - Biological processi

    Exocytosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lethal(2) giant larvae protein homolog 1
    Short name:
    LLGL
    Alternative name(s):
    DLG4
    Hugl-1
    Human homolog to the D-lgl gene protein
    Gene namesi
    Name:LLGL1
    Synonyms:DLG4, HUGL, HUGL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6628. LLGL1.

    Subcellular locationi

    Early endosome membrane By similarity. Golgi apparatustrans-Golgi network membrane By similarity. Golgi apparatus membrane By similarity. Cell projectionaxon By similarity. Cytoplasmcytoskeleton 2 Publications
    Note: Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons By similarity.By similarity

    GO - Cellular componenti

    1. axon Source: UniProtKB-SubCell
    2. cortical actin cytoskeleton Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. cytoskeleton Source: ProtInc
    5. early endosome membrane Source: UniProtKB
    6. Golgi cis cisterna Source: UniProtKB
    7. Golgi membrane Source: UniProtKB-SubCell
    8. myelin sheath abaxonal region Source: Ensembl
    9. trans-Golgi network membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton, Endosome, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30396.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10641064Lethal(2) giant larvae protein homolog 1PRO_0000232725Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei663 – 6631Phosphoserine1 Publication
    Modified residuei958 – 9581PhosphothreonineBy similarity

    Post-translational modificationi

    Phosphorylated at least at Ser-663 by PRKCI.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ15334.
    PaxDbiQ15334.
    PRIDEiQ15334.

    PTM databases

    PhosphoSiteiQ15334.

    Expressioni

    Tissue specificityi

    Expressed in brain, kidney, and muscle but is barely seen in heart and placenta. Down-regulated or lost in all cell lines and in most of the tumor samples analyzed. Loss was associated with advanced stage of the disease.3 Publications

    Gene expression databases

    ArrayExpressiQ15334.
    BgeeiQ15334.
    CleanExiHS_DLG4.
    HS_LLGL1.
    GenevestigatoriQ15334.

    Organism-specific databases

    HPAiHPA022924.
    HPA023569.

    Interactioni

    Subunit structurei

    Associated with nonmuscle myosin II heavy chain. Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A. Interacts with STX4A By similarity. Interacts with RAB10 (GDP-bound form); the interaction is direct and promotes RAB10 association with membranes and activation through competition with the Rab inhibitor GDI1 By similarity. Interacts with VPRBP.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi110183. 16 interactions.
    IntActiQ15334. 25 interactions.
    MINTiMINT-1387867.
    STRINGi9606.ENSP00000321537.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15334.
    SMRiQ15334. Positions 439-464.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati38 – 7134WD 1Add
    BLAST
    Repeati78 – 11942WD 2Add
    BLAST
    Repeati139 – 17638WD 3Add
    BLAST
    Repeati200 – 23435WD 4Add
    BLAST
    Repeati240 – 27233WD 5Add
    BLAST
    Repeati290 – 33243WD 6Add
    BLAST
    Repeati340 – 37435WD 7Add
    BLAST
    Repeati396 – 47479WD 8Add
    BLAST
    Repeati518 – 59376WD 9Add
    BLAST
    Repeati602 – 66362WD 10Add
    BLAST
    Repeati723 – 78361WD 11Add
    BLAST
    Repeati792 – 84453WD 12Add
    BLAST
    Repeati849 – 90254WD 13Add
    BLAST
    Repeati916 – 93924WD 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.
    InParanoidiQ15334.
    KOiK06094.
    OMAiVTLHAEW.
    OrthoDBiEOG79W94C.
    PhylomeDBiQ15334.
    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.
    [Graphical view]
    PRINTSiPR00962. LETHAL2GIANT.
    SMARTiSM00320. WD40. 5 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 4 hits.
    PROSITEiPS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15334-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMKFRFRRQG ADPQREKLKQ ELFAFNKTVE HGFPNQPSAL AFDPELRIMA     50
    IGTRSGAVKI YGAPGVEFTG LHRDAATVTQ MHFLTGQGRL LSLLDDSSLH 100
    LWEIVHHNGC AHLEEALSFQ LPSRPGFDGA SAPLSLTRVT VVLLVAASDI 150
    AALGTEGSSV FFLDVTTLTL LEGQTLAPGE VLRSVPDDYR CGKALGPVES 200
    LQGHLRDPTK ILIGYSRGLL VIWNQASQCV DHIFLGNQQL ESLCWGRDSS 250
    TVVSSHSDGS YAVWSVDAGS FPTLQPTVAT TPYGPFPCKA INKILWRNCE 300
    SGGHFIIFSG GMPRASYGDR HCVSVLRAET LVTLDFTSRI IDFFTVHSTR 350
    PEDEFDDPQA LAVLLEEELV VLDLQTPGWP AVPAPYLAPL HSSAITCSAH 400
    VASVPAKLWA RIVSAGEQQS PQPVSSALSW PITGGRNLAQ EPSQRGLLLT 450
    GHEDGTVRFW DASGVALRPL YKLSTAGLFQ TDCEHADSLA QAAEDDWPPF 500
    RKVGCFDPYS DDPRLGVQKV ALCKYTAQMV VAGTAGQVLV LELSDVPVEQ 550
    AVSVAIIDLL QDREGFTWKG HERLSPRTGP LPWPAGFQPR VLVQCLPPAA 600
    VTAVTLHTEW SLVAFGTSHG FGLFDYQRKS PVLARCTLHP NDSLAMEGPL 650
    SRVKSLKKSL RQSFRRIRKS RVSGKKRAAN ASSKLQEANA QLAEQACPHD 700
    VEMTPVQRRI EPRSADDSLS GVVRCLYFAD TFLRDGAHHG PTMWAGTNSG 750
    SVFAYALEVP AAAVGGEKRP EQAVEAVLGK EVQLMHRAPV VAIAVLDGRG 800
    RPLPEPYEAS RDLAQAPDMQ GGHAVLIASE EQFKVFTLPK VSAKTKFKLT 850
    AHEGCRVRKV ALATFASVAC EDYAETCLAC LTNLGDVHVF SVPGLRPQVH 900
    YSCIRKEDIS GIASCVFTRH GQGFYLISPS EFERFSLSAR NITEPLCSLD 950
    INWPRDATQA SYRIRESPKL SQANGTPSIL LAPQSLDGSP DPAHSMGPDT 1000
    PEPPEAALSP MSIDSATSAD TTLDTTGDVT VEDVKDFLGS SEESEKNLRN 1050
    LAEDEAHACA ILIK 1064
    Length:1,064
    Mass (Da):115,418
    Last modified:September 22, 2009 - v3
    Checksum:i9318D6736934E4D5
    GO

    Sequence cautioni

    The sequence BAA19516.1 differs from that shown. Reason: Frameshift at positions 205, 216, 737, 740, 794, 799, 866, 872, 881, 945, 968 and 1024.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51R → P in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti152 – 1521A → G in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti159 – 1591S → SS in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti194 – 1941A → D in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti206 – 2061R → Q in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti216 – 2161S → D in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti223 – 2231W → R in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti226 – 2272AS → SR in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti337 – 3382TS → HF in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti400 – 4001H → Y in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti486 – 4861A → S in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti580 – 5801P → L in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti588 – 5881Q → L in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti590 – 5901R → C in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti624 – 6296FDYQRK → L in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti686 – 6861Q → L in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti781 – 7822EV → KE in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti782 – 7821V → L in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti799 – 7991Missing in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti818 – 8181D → H in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti860 – 8601V → VV in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti871 – 8711E → R in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti894 – 8941Missing in BAA19516. (PubMed:8565641)Curated
    Sequence conflicti898 – 8981Q → E in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti945 – 9451P → G in CAA60130. (PubMed:7542763)Curated
    Sequence conflicti1060 – 10645AILIK → CI in CAA60130. (PubMed:7542763)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481S → G.3 Publications
    Corresponds to variant rs2290505 [ dbSNP | Ensembl ].
    VAR_058710
    Natural varianti550 – 5501Q → H.1 Publication
    Corresponds to variant rs1063683 [ dbSNP | Ensembl ].
    VAR_058711

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86371 mRNA. Translation: CAA60130.1.
    D50550 mRNA. Translation: BAA19516.1. Frameshift.
    BC028037 mRNA. Translation: AAH28037.1.
    BC151838 mRNA. Translation: AAI51839.1.
    CCDSiCCDS32586.1.
    PIRiI38171.
    RefSeqiNP_004131.3. NM_004140.3.
    UniGeneiHs.513983.

    Genome annotation databases

    EnsembliENST00000316843; ENSP00000321537; ENSG00000131899.
    GeneIDi3996.
    KEGGihsa:3996.
    UCSCiuc002gsp.3. human.

    Polymorphism databases

    DMDMi259016343.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86371 mRNA. Translation: CAA60130.1 .
    D50550 mRNA. Translation: BAA19516.1 . Frameshift.
    BC028037 mRNA. Translation: AAH28037.1 .
    BC151838 mRNA. Translation: AAI51839.1 .
    CCDSi CCDS32586.1.
    PIRi I38171.
    RefSeqi NP_004131.3. NM_004140.3.
    UniGenei Hs.513983.

    3D structure databases

    ProteinModelPortali Q15334.
    SMRi Q15334. Positions 439-464.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110183. 16 interactions.
    IntActi Q15334. 25 interactions.
    MINTi MINT-1387867.
    STRINGi 9606.ENSP00000321537.

    PTM databases

    PhosphoSitei Q15334.

    Polymorphism databases

    DMDMi 259016343.

    Proteomic databases

    MaxQBi Q15334.
    PaxDbi Q15334.
    PRIDEi Q15334.

    Protocols and materials databases

    DNASUi 3996.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316843 ; ENSP00000321537 ; ENSG00000131899 .
    GeneIDi 3996.
    KEGGi hsa:3996.
    UCSCi uc002gsp.3. human.

    Organism-specific databases

    CTDi 3996.
    GeneCardsi GC17P018128.
    HGNCi HGNC:6628. LLGL1.
    HPAi HPA022924.
    HPA023569.
    MIMi 600966. gene.
    neXtProti NX_Q15334.
    PharmGKBi PA30396.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289584.
    HOGENOMi HOG000115700.
    HOVERGENi HBG052711.
    InParanoidi Q15334.
    KOi K06094.
    OMAi VTLHAEW.
    OrthoDBi EOG79W94C.
    PhylomeDBi Q15334.
    TreeFami TF314585.

    Miscellaneous databases

    GeneWikii LLGL1.
    GenomeRNAii 3996.
    NextBioi 15682.
    PROi Q15334.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15334.
    Bgeei Q15334.
    CleanExi HS_DLG4.
    HS_LLGL1.
    Genevestigatori Q15334.

    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.
    [Graphical view ]
    PRINTSi PR00962. LETHAL2GIANT.
    SMARTi SM00320. WD40. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 4 hits.
    PROSITEi PS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain."
      Strand D.J., Unger S., Corvi R., Hartenstein K., Schenkel H., Kalmes A., Merdes G., Neumann B., Kreig-Schneider F., Coy J.F., Poustka A., Schwab M., Mechler B.
      Oncogene 11:291-301(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH MYOSIN II HEAVY CHAIN, VARIANTS GLY-148 AND HIS-550.
      Tissue: Brain.
    2. "The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2."
      Koyama K., Fukushima Y., Inazawa J., Tomotsune D., Takahashi N., Nakamura Y.
      Cytogenet. Cell Genet. 72:78-82(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-148.
      Tissue: Brain.
    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], VARIANT GLY-148.
      Tissue: Fetal brain.
    4. "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, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-663.
    5. "Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer."
      Schimanski C.C., Schmitz G., Kashyap A., Bosserhoff A.K., Bataille F., Schafer S.C., Lehr H.A., Berger M.R., Galle P.R., Strand S., Strand D.
      Oncogene 24:3100-3109(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    6. Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN COLORECTAL CANCER AND MELANOMA.
    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 nameiL2GL1_HUMAN
    AccessioniPrimary (citable) accession number: Q15334
    Secondary accession number(s): A7MBM7
    , O00188, Q58F11, Q86UK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: September 22, 2009
    Last modified: October 1, 2014
    This is version 117 of the entry and version 3 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

    Down-regulation of LLGL1 is associated with the progression of colorectal cancer and melanoma. Located within the Smith-Magenis syndrome region on chromosome 17; deleted in patients with this syndrome.
    Expression increases cell adhesion and decreases cell migration. Substitutes for Drosophila l2gl tumor suppressor function in vivo.

    Keywords - Technical termi

    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. 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