LLGL1 - LLGL scribble cell polarity complex component 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3996

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

LLGL: LLGL2 (277 - 380)

  • 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
HY-P83298A LLGL1 Antibody (YA3043)(PBS only) 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

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
Others LLGL1 NCBI