LLGL1 LLGL1, scribble cell polarity complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: LLGL1provided by HGNC
Official Full Name: LLGL1, scribble cell polarity complex componentprovided by HGNC
Primary source: HGNC:HGNC:6628
See related: Ensembl:ENSG00000131899 MIM:600966; Vega:OTTHUMG00000059396
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1
Summary: 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 residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 15.9), testis (RPKM 7.8) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 17p11.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	17	NC_000017.11 (18225593..18244875)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18128907..18148189)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

loss of Llgl1 results in EGFR mislocalization, promoting pre-neoplastic changes
Title: Llgl1 prevents metaplastic survival driven by epidermal growth factor dependent migration.
these results revealed that miR-652-3p execute a tumor-promoter function in non-small cell lung cancer through direct binding and regulating the expression of Lgl1
Title: MiR-652-3p is upregulated in non-small cell lung cancer and promotes proliferation and metastasis by directly targeting Lgl1.
Older age is a strong predictor of CNS involvement in patients seropositive for CASPR2-IgG or LGI1-IgG. Pain, peripheral manifestations, and stereotypic paroxysmal dizziness spells are common with LGI1-IgG.
Title: Expanded phenotypes and outcomes among 256 LGI1/CASPR2-IgG-positive patients.
Reduced expression of Hugl 1 predicts poor survival in lung SqCC patients. The expression of Hugl 1 was inversely correlated with both overall survival rate and tumor stage.
Title: Reduced Expression of Hugl 1 Contributes to the Progression of Lung Squamous Cell Carcinoma.
Our results support the growing appreciation that the tumour regulatory functions of Scribble, and other polarity protein family members, are context dependent.
Title: Scribble acts as an oncogene in Eμ-myc-driven lymphoma.
this study provides the evidence that Hugl-1 inhibits glioma cell growth in intracranial model of nude mice, suggesting that Hugl-1 might be a potential tumor target for glioma therapy.
Title: Hugl-1 inhibits glioma cell growth in intracranial model.
Lgl1 has a role in inhibiting glioblastoma
Title: Inhibition of glioblastoma malignancy by Lgl1.
PTEN loss leads to the phosphorylation and inactivation of Lgl by atypical protein kinase C in glioblastoma cells.
Title: PTEN loss represses glioblastoma tumor initiating cell differentiation via inactivation of Lgl1.
Suggest that Hugl-1 induces growth suppression and apoptosis in a human esophageal squamous cell carcinoma cell line both in vitro and in vivo.
Title: Hugl-1 induces apoptosis in esophageal carcinoma cells both in vitro and in vivo.
inactivation of Llgl1 enhances hematopoietic stem cells self-renewal and fitness and is associated with unfavorable outcome in human acute myeloid leukemia
Title: The cell fate determinant Llgl1 influences HSC fitness and prognosis in AML.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Hippo signaling pathway, organism-specific biosystem (from KEGG)
Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Hippo signaling pathway, conserved biosystem (from KEGG)
Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Tight junction, organism-specific biosystem (from KEGG)
Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
Tight junction, conserved biosystem (from KEGG)
Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-12561 (e-PCR)
- UniSTS:91912

D17S1711 (e-PCR)
- UniSTS:153873

RH39400 (e-PCR)
- UniSTS:88876

D8S2279 (e-PCR)
- UniSTS:473907

Homology

Homologs of the LLGL1 gene: The LLGL1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 220 organisms have orthologs with human gene LLGL1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
Rab GTPase binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
Golgi to plasma membrane transport	ISS Inferred from Sequence or Structural Similarity more info
axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
cortical actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cortical actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
establishment of spindle orientation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
exocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
regulation of establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
Golgi cis cisterna	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with axon	ISS Inferred from Sequence or Structural Similarity more info
cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	TAS Traceable Author Statement more info	PubMed
early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: lethal(2) giant larvae protein homolog 1

Names: human homolog to the D-lgl gene protein; lethal giant larvae homolog 1, scribble cell polarity complex component

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004140.3 → NP_004131.3 lethal(2) giant larvae protein homolog 1

See identical proteins and their annotated locations for NP_004131.3

Status: REVIEWED

Source sequence(s)

AC127537, BC028037, BC051466, BQ923585, BQ937224

Consensus CDS

CCDS32586.1

UniProtKB/Swiss-Prot

Q15334

Related

ENSP00000321537.4, OTTHUMP00000065700, ENST00000316843.8, OTTHUMT00000132067

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p12 Primary Assembly

Range

18225593..18244875

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523854.2 → XP_011522156.1 lethal(2) giant larvae protein homolog 1 isoform X6

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523849.2 → XP_011522151.1 lethal(2) giant larvae protein homolog 1 isoform X1

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523853.2 → XP_011522155.1 lethal(2) giant larvae protein homolog 1 isoform X5

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523852.2 → XP_011522154.1 lethal(2) giant larvae protein homolog 1 isoform X4

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523855.2 → XP_011522157.1 lethal(2) giant larvae protein homolog 1 isoform X7

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523851.2 → XP_011522153.1 lethal(2) giant larvae protein homolog 1 isoform X3

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523856.1 → XP_011522158.1 lethal(2) giant larvae protein homolog 1 isoform X8

Related

ENSP00000480006.1, ENST00000621229.1

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523850.2 → XP_011522152.1 lethal(2) giant larvae protein homolog 1 isoform X2

Conserved Domains (1) summary

pfam08366
Location:279 → 378

LLGL; LLGL2