• Gene id: 3996

Gene Summary

• Gene Symbol: LLGL1   Gene   UCSC   Ensembl
• Aliases: DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1
• Gene name: LLGL scribble cell polarity complex component 1
• Alternate names: lethal(2) giant larvae protein homolog 1, LLGL1, scribble cell polarity complex component, human homolog to the D-lgl gene protein, lethal giant larvae homolog 1, scribble cell polarity complex component,
• Gene location: 17p11.2 (18225592: 18244874)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine resi
• OMIM: 600966

Protein Summary

• Protein general information: Q15334  
  • Name: Lethal(2) giant larvae protein homolog 1 (LLGL) (DLG4) (Hugl 1) (Human homolog to the D lgl gene protein)
  • Length: 1064  
  • Mass: 115418
  • Tissue specificity: 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. {ECO
• Sequence:

  MMKFRFRRQGADPQREKLKQELFAFNKTVEHGFPNQPSALAFDPELRIMAIGTRSGAVKIYGAPGVEFTGLHRDA
  ATVTQMHFLTGQGRLLSLLDDSSLHLWEIVHHNGCAHLEEALSFQLPSRPGFDGASAPLSLTRVTVVLLVAASDI
  AALGTEGSSVFFLDVTTLTLLEGQTLAPGEVLRSVPDDYRCGKALGPVESLQGHLRDPTKILIGYSRGLLVIWNQ
  ASQCVDHIFLGNQQLESLCWGRDSSTVVSSHSDGSYAVWSVDAGSFPTLQPTVATTPYGPFPCKAINKILWRNCE
  SGGHFIIFSGGMPRASYGDRHCVSVLRAETLVTLDFTSRIIDFFTVHSTRPEDEFDDPQALAVLLEEELVVLDLQ
  TPGWPAVPAPYLAPLHSSAITCSAHVASVPAKLWARIVSAGEQQSPQPVSSALSWPITGGRNLAQEPSQRGLLLT
  GHEDGTVRFWDASGVALRPLYKLSTAGLFQTDCEHADSLAQAAEDDWPPFRKVGCFDPYSDDPRLGVQKVALCKY
  TAQMVVAGTAGQVLVLELSDVPVEQAVSVAIIDLLQDREGFTWKGHERLSPRTGPLPWPAGFQPRVLVQCLPPAA
  VTAVTLHTEWSLVAFGTSHGFGLFDYQRKSPVLARCTLHPNDSLAMEGPLSRVKSLKKSLRQSFRRIRKSRVSGK
  KRAANASSKLQEANAQLAEQACPHDVEMTPVQRRIEPRSADDSLSGVVRCLYFADTFLRDGAHHGPTMWAGTNSG
  SVFAYALEVPAAAVGGEKRPEQAVEAVLGKEVQLMHRAPVVAIAVLDGRGRPLPEPYEASRDLAQAPDMQGGHAV
  LIASEEQFKVFTLPKVSAKTKFKLTAHEGCRVRKVALATFASVACEDYAETCLACLTNLGDVHVFSVPGLRPQVH
  YSCIRKEDISGIASCVFTRHGQGFYLISPSEFERFSLSARNITEPLCSLDINWPRDATQASYRIRESPKLSQANG
  TPSILLAPQSLDGSPDPAHSMGPDTPEPPEAALSPMSIDSATSADTTLDTTGDVTVEDVKDFLGSSEESEKNLRN
  LAEDEAHACAILIK

• Structural information:
  • Interpro: IPR000664  IPR013577  IPR015943  IPR001680  IPR019775   IPR036322  
  • Prosite: PS00678 PS50082
  • STRING: ENSP00000321537
• Other Databases: GeneCards:  LLGL1  Malacards:  LLGL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IBA	biological process
GO:0032878	regulation of establishment or maintenance of cell polarity	IBA	biological process
GO:0045159	myosin II binding	IBA	molecular function
GO:0051294	establishment of spindle orientation	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0008593	regulation of Notch signaling pathway	IBA	biological process
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0050708	regulation of protein secretion	IBA	biological process
GO:0032588	trans-Golgi network membrane	ISS	cellular component
GO:0031901	early endosome membrane	ISS	cellular component
GO:0030424	axon	ISS	colocalizes with
GO:0006893	Golgi to plasma membrane transport	ISS	biological process
GO:0007409	axonogenesis	ISS	biological process
GO:0005096	GTPase activator activity	ISS	molecular function
GO:0000137	Golgi cis cisterna	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0030866	cortical actin cytoskeleton organization	IDA	biological process
GO:0030864	cortical actin cytoskeleton	IDA	cellular component
GO:0019901	protein kinase binding	IDA	molecular function
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04530	Tight junction
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq