LLGL1 LLGL scribble cell polarity complex component 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LLGL1provided by HGNC
Official Full Name: LLGL scribble cell polarity complex component 1provided by HGNC
Primary source: HGNC:HGNC:6628
See related: Ensembl:ENSG00000131899 MIM:600966; AllianceGenome:HGNC:6628
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
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Genomic context

Location:: 17p11.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18225635..18244875)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18172434..18191679)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18128949..18148189)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
Title: Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
LLGL1 Regulates Gemcitabine Resistance by Modulating the ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma.
Title: LLGL1 Regulates Gemcitabine Resistance by Modulating the ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma.
Scribble, Lgl1, and myosin II form a complex in vivo to promote directed cell migration.
Title: Scribble, Lgl1, and myosin II form a complex in vivo to promote directed cell migration.
[MiR-665 Promotes the Biological Behavior of Small Cell Lung Cancer by Targeting LLGL1].
Title: [MiR-665 Promotes the Biological Behavior of Small Cell Lung Cancer by Targeting LLGL1].
LLGL1 is coexpressed with E-cadherin; loss of expression of either protein is associated with diffuse gastric cancer and peritoneal metastases.
Title: Loss of LLGL1 Expression Correlates with Diffuse Gastric Cancer and Distant Peritoneal Metastases.
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.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

D17S1711 (e-PCR)
- UniSTS:153873

RH39400 (e-PCR)
- UniSTS:88876

D8S2279 (e-PCR)
- UniSTS:473907

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to plasma membrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cortical actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortical actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of spindle orientation	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of epithelial cell apical/basal polarity	NAS Non-traceable Author Statement more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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

Names: LLGL1, scribble cell polarity complex component; human homolog to the D-lgl gene protein; lethal giant larvae homolog 1, scribble cell polarity complex component

NCBI Reference Sequences (RefSeq)

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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_004140.4 → NP_004131.4 lethal(2) giant larvae protein homolog 1

Status: REVIEWED

Source sequence(s)

AC109515, AC127537

Consensus CDS

CCDS32586.1

UniProtKB/Swiss-Prot

A7MBM7, O00188, Q15334, Q58F11, Q86UK6

Related

ENSP00000321537.4, ENST00000316843.9

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

18225635..18244875

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523854.3 → XP_011522156.1 lethal(2) giant larvae protein homolog 1 isoform X7

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523849.3 → XP_011522151.1 lethal(2) giant larvae protein homolog 1 isoform X1

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523853.3 → XP_011522155.1 lethal(2) giant larvae protein homolog 1 isoform X5

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523852.3 → XP_011522154.1 lethal(2) giant larvae protein homolog 1 isoform X4

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_011523855.3 → XP_011522157.1 lethal(2) giant larvae protein homolog 1 isoform X13

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_047436004.1 → XP_047291960.1 lethal(2) giant larvae protein homolog 1 isoform X9
XM_011523851.3 → XP_011522153.1 lethal(2) giant larvae protein homolog 1 isoform X3

Conserved Domains (1) summary

pfam08366
Location:280 → 379

LLGL; LLGL2
XM_047436006.1 → XP_047291962.1 lethal(2) giant larvae protein homolog 1 isoform X12
XM_047436003.1 → XP_047291959.1 lethal(2) giant larvae protein homolog 1 isoform X8
XM_047436008.1 → XP_047291964.1 lethal(2) giant larvae protein homolog 1 isoform X15
XM_011523856.2 → XP_011522158.2 lethal(2) giant larvae protein homolog 1 isoform X11
XM_011523850.3 → XP_011522152.1 lethal(2) giant larvae protein homolog 1 isoform X2

Conserved Domains (1) summary

pfam08366
Location:279 → 378

LLGL; LLGL2
XM_047436002.1 → XP_047291958.1 lethal(2) giant larvae protein homolog 1 isoform X6
XM_047436007.1 → XP_047291963.1 lethal(2) giant larvae protein homolog 1 isoform X14
XM_047436005.1 → XP_047291961.1 lethal(2) giant larvae protein homolog 1 isoform X10

Reference GRCh38.p14 PATCHES

Genomic

NW_017363819.1 Reference GRCh38.p14 PATCHES

Range

951..5249

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

18172434..18191679

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316098.1 → XP_054172073.1 lethal(2) giant larvae protein homolog 1 isoform X7
XM_054316092.1 → XP_054172067.1 lethal(2) giant larvae protein homolog 1 isoform X1
XM_054316096.1 → XP_054172071.1 lethal(2) giant larvae protein homolog 1 isoform X5
XM_054316095.1 → XP_054172070.1 lethal(2) giant larvae protein homolog 1 isoform X4
XM_054316104.1 → XP_054172079.1 lethal(2) giant larvae protein homolog 1 isoform X13
XM_054316100.1 → XP_054172075.1 lethal(2) giant larvae protein homolog 1 isoform X9
XM_054316094.1 → XP_054172069.1 lethal(2) giant larvae protein homolog 1 isoform X3
XM_054316103.1 → XP_054172078.1 lethal(2) giant larvae protein homolog 1 isoform X12
XM_054316099.1 → XP_054172074.1 lethal(2) giant larvae protein homolog 1 isoform X8
XM_054316106.1 → XP_054172081.1 lethal(2) giant larvae protein homolog 1 isoform X15
XM_054316102.1 → XP_054172077.1 lethal(2) giant larvae protein homolog 1 isoform X11
XM_054316093.1 → XP_054172068.1 lethal(2) giant larvae protein homolog 1 isoform X2
XM_054316097.1 → XP_054172072.1 lethal(2) giant larvae protein homolog 1 isoform X6
XM_054316105.1 → XP_054172080.1 lethal(2) giant larvae protein homolog 1 isoform X14
XM_054316101.1 → XP_054172076.1 lethal(2) giant larvae protein homolog 1 isoform X10