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Protein

Lethal(2) giant larvae protein homolog 1

Gene

LLGL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

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.

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • Rab GTPase binding Source: GO_Central
  • structural molecule activity Source: ProtInc

GO - Biological processi

Keywordsi

Biological processExocytosis

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000131899.10
HGNCiHGNC:6628 LLGL1
MIMi600966 gene
neXtProtiNX_Q15334

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi3996
OpenTargetsiENSG00000131899
PharmGKBiPA30396

Polymorphism and mutation databases

BioMutaiLLGL1
DMDMi259016343

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002327251 – 1064Lethal(2) giant larvae protein homolog 1Add BLAST1064

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei663Phosphoserine1 Publication1
Modified residuei958PhosphothreonineBy similarity1
Modified residuei967PhosphoserineBy similarity1
Modified residuei985PhosphoserineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15334
MaxQBiQ15334
PaxDbiQ15334
PeptideAtlasiQ15334
PRIDEiQ15334
ProteomicsDBi60533

PTM databases

iPTMnetiQ15334
PhosphoSitePlusiQ15334
SwissPalmiQ15334

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

BgeeiENSG00000131899 Expressed in 223 organ(s), highest expression level in lymph node
CleanExiHS_DLG4
HS_LLGL1
ExpressionAtlasiQ15334 baseline and differential
GenevisibleiQ15334 HS

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 DCAF1.By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110183, 35 interactors
CORUMiQ15334
IntActiQ15334, 38 interactors
MINTiQ15334
STRINGi9606.ENSP00000321537

Structurei

3D structure databases

ProteinModelPortaliQ15334
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati38 – 71WD 1Add BLAST34
Repeati78 – 119WD 2Add BLAST42
Repeati139 – 176WD 3Add BLAST38
Repeati200 – 234WD 4Add BLAST35
Repeati240 – 272WD 5Add BLAST33
Repeati290 – 332WD 6Add BLAST43
Repeati340 – 374WD 7Add BLAST35
Repeati396 – 474WD 8Add BLAST79
Repeati518 – 593WD 9Add BLAST76
Repeati602 – 663WD 10Add BLAST62
Repeati723 – 783WD 11Add BLAST61
Repeati792 – 844WD 12Add BLAST53
Repeati849 – 902WD 13Add BLAST54
Repeati916 – 939WD 14Add BLAST24

Sequence similaritiesi

Belongs to the WD repeat L(2)GL family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1983 Eukaryota
ENOG410XS6Z LUCA
GeneTreeiENSGT00390000000018
HOGENOMiHOG000115700
HOVERGENiHBG052711
InParanoidiQ15334
KOiK06094
OMAiSWYHADG
OrthoDBiEOG091G01L0
PhylomeDBiQ15334
TreeFamiTF314585

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000664 Lethal2_giant
IPR013577 LLGL2
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08366 LLGL, 1 hit
PF00400 WD40, 1 hit
PRINTSiPR00962 LETHAL2GIANT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q15334-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMKFRFRRQG ADPQREKLKQ ELFAFNKTVE HGFPNQPSAL AFDPELRIMA
60 70 80 90 100
IGTRSGAVKI YGAPGVEFTG LHRDAATVTQ MHFLTGQGRL LSLLDDSSLH
110 120 130 140 150
LWEIVHHNGC AHLEEALSFQ LPSRPGFDGA SAPLSLTRVT VVLLVAASDI
160 170 180 190 200
AALGTEGSSV FFLDVTTLTL LEGQTLAPGE VLRSVPDDYR CGKALGPVES
210 220 230 240 250
LQGHLRDPTK ILIGYSRGLL VIWNQASQCV DHIFLGNQQL ESLCWGRDSS
260 270 280 290 300
TVVSSHSDGS YAVWSVDAGS FPTLQPTVAT TPYGPFPCKA INKILWRNCE
310 320 330 340 350
SGGHFIIFSG GMPRASYGDR HCVSVLRAET LVTLDFTSRI IDFFTVHSTR
360 370 380 390 400
PEDEFDDPQA LAVLLEEELV VLDLQTPGWP AVPAPYLAPL HSSAITCSAH
410 420 430 440 450
VASVPAKLWA RIVSAGEQQS PQPVSSALSW PITGGRNLAQ EPSQRGLLLT
460 470 480 490 500
GHEDGTVRFW DASGVALRPL YKLSTAGLFQ TDCEHADSLA QAAEDDWPPF
510 520 530 540 550
RKVGCFDPYS DDPRLGVQKV ALCKYTAQMV VAGTAGQVLV LELSDVPVEQ
560 570 580 590 600
AVSVAIIDLL QDREGFTWKG HERLSPRTGP LPWPAGFQPR VLVQCLPPAA
610 620 630 640 650
VTAVTLHTEW SLVAFGTSHG FGLFDYQRKS PVLARCTLHP NDSLAMEGPL
660 670 680 690 700
SRVKSLKKSL RQSFRRIRKS RVSGKKRAAN ASSKLQEANA QLAEQACPHD
710 720 730 740 750
VEMTPVQRRI EPRSADDSLS GVVRCLYFAD TFLRDGAHHG PTMWAGTNSG
760 770 780 790 800
SVFAYALEVP AAAVGGEKRP EQAVEAVLGK EVQLMHRAPV VAIAVLDGRG
810 820 830 840 850
RPLPEPYEAS RDLAQAPDMQ GGHAVLIASE EQFKVFTLPK VSAKTKFKLT
860 870 880 890 900
AHEGCRVRKV ALATFASVAC EDYAETCLAC LTNLGDVHVF SVPGLRPQVH
910 920 930 940 950
YSCIRKEDIS GIASCVFTRH GQGFYLISPS EFERFSLSAR NITEPLCSLD
960 970 980 990 1000
INWPRDATQA SYRIRESPKL SQANGTPSIL LAPQSLDGSP DPAHSMGPDT
1010 1020 1030 1040 1050
PEPPEAALSP MSIDSATSAD TTLDTTGDVT VEDVKDFLGS SEESEKNLRN
1060
LAEDEAHACA ILIK
Length:1,064
Mass (Da):115,418
Last modified:September 22, 2009 - v3
Checksum:i9318D6736934E4D5
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WW77A0A087WW77_HUMAN
Lethal(2) giant larvae protein homo...
LLGL1
1,056Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5R → P in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti152A → G in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti159S → SS in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti194A → D in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti206R → Q in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti216S → D in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti223W → R in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti226 – 227AS → SR in BAA19516 (PubMed:8565641).Curated2
Sequence conflicti337 – 338TS → HF in CAA60130 (PubMed:7542763).Curated2
Sequence conflicti400H → Y in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti486A → S in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti580P → L in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti588Q → L in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti590R → C in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti624 – 629FDYQRK → L in CAA60130 (PubMed:7542763).Curated6
Sequence conflicti686Q → L in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti781 – 782EV → KE in BAA19516 (PubMed:8565641).Curated2
Sequence conflicti782V → L in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti799Missing in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti818D → H in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti860V → VV in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti871E → R in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti894Missing in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti898Q → E in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti945P → G in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti1060 – 1064AILIK → CI in CAA60130 (PubMed:7542763).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058710148S → G3 PublicationsCorresponds to variant dbSNP:rs2290505Ensembl.1
Natural variantiVAR_058711550Q → H1 PublicationCorresponds to variant dbSNP:rs1063683Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
ENST00000640494; ENSP00000492144; ENSG00000284137
GeneIDi3996
KEGGihsa:3996
UCSCiuc002gsp.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ15334
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110183, 35 interactors
CORUMiQ15334
IntActiQ15334, 38 interactors
MINTiQ15334
STRINGi9606.ENSP00000321537

PTM databases

iPTMnetiQ15334
PhosphoSitePlusiQ15334
SwissPalmiQ15334

Polymorphism and mutation databases

BioMutaiLLGL1
DMDMi259016343

Proteomic databases

EPDiQ15334
MaxQBiQ15334
PaxDbiQ15334
PeptideAtlasiQ15334
PRIDEiQ15334
ProteomicsDBi60533

Protocols and materials databases

DNASUi3996
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316843; ENSP00000321537; ENSG00000131899
ENST00000640494; ENSP00000492144; ENSG00000284137
GeneIDi3996
KEGGihsa:3996
UCSCiuc002gsp.4 human

Organism-specific databases

CTDi3996
DisGeNETi3996
EuPathDBiHostDB:ENSG00000131899.10
GeneCardsiLLGL1
HGNCiHGNC:6628 LLGL1
HPAiHPA022924
HPA023569
MIMi600966 gene
neXtProtiNX_Q15334
OpenTargetsiENSG00000131899
PharmGKBiPA30396
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1983 Eukaryota
ENOG410XS6Z LUCA
GeneTreeiENSGT00390000000018
HOGENOMiHOG000115700
HOVERGENiHBG052711
InParanoidiQ15334
KOiK06094
OMAiSWYHADG
OrthoDBiEOG091G01L0
PhylomeDBiQ15334
TreeFamiTF314585

Miscellaneous databases

GeneWikiiLLGL1
GenomeRNAii3996
PROiPR:Q15334
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131899 Expressed in 223 organ(s), highest expression level in lymph node
CleanExiHS_DLG4
HS_LLGL1
ExpressionAtlasiQ15334 baseline and differential
GenevisibleiQ15334 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000664 Lethal2_giant
IPR013577 LLGL2
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08366 LLGL, 1 hit
PF00400 WD40, 1 hit
PRINTSiPR00962 LETHAL2GIANT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiL2GL1_HUMAN
AccessioniPrimary (citable) accession number: Q15334
Secondary accession number(s): A7MBM7
, O00188, Q58F11, Q86UK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: September 22, 2009
Last modified: November 7, 2018
This is version 151 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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