LLGL1 - LLGL scribble cell polarity complex component 1 Gene

Homo sapiens

Also known as DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1

Gene ID: 3996 | Gene type: protein coding

About LLGL1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,225,635-18,244,875 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 206 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 15.9), testis (RPKM 7.8) and 23 other tissues.

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]

LLGL1 Products(1)

mRNA	Protein	Name
NM_004140.4	NP_004131.4	lethal(2) giant larvae protein homolog 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7542763	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	7542763	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cortical actin cytoskeleton organization	IDA IDA: Inferred from direct assay	7542763	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	7542763	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	7542763	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	7542763	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LLGL1 Protein Structure

LLGL

0
200
400
600
800
1000
1064 a.a.

Protein Preferred Names

Protein Names

lethal(2) giant larvae protein homolog 1

LLGL1, scribble cell polarity complex component

LLGL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83298	LLGL1 Antibody (YA3043)	WB, IP	Human

Related Diseases

Diseases

Alias

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Alzheimer Disease 12

Ad12	Alzheimer'S Disease 12
Alzheimer Disease, Familial, 12	Alzheimer Disease Familial 12

Alzheimer Disease 5

Ad5	Alzheimer'S Disease 5
Alzheimer Disease, Familial, 5	Alzheimer Disease-5
Alzheimer Disease, Familial 5	Alzheimer'S Disease 5, Late Onset
Alzheimer Disease, Familial, Type 5

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07700	LLGL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LLGL1	VGNC	VGNC:99165
Rattus norvegicus	LLGL1	RGD	RGD:3012
Mus musculus	LLGL1	MGD	MGI:102682
Canis familiaris	LLGL1	VGNC	VGNC:42704
Bos taurus	LLGL1	VGNC	VGNC:30915
Felis catus	LLGL1	VGNC	VGNC:68060

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