Format

Send to:

Choose Destination

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

Gene ID: 3996, updated on 7-Oct-2018

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

Genomic context

See LLGL1 in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene myosin XVA Neighboring gene uncharacterized LOC105371567 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene FLII, actin remodeling protein Neighboring gene mitochondrial elongation factor 2 Neighboring gene DNA topoisomerase III alpha Neighboring gene ribosomal protein L7a pseudogene 65

Genomic regions, transcripts, and products

Expression

  • 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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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)

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)

  1. NM_004140.3NP_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:280379
    LLGL; LLGL2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    18225593..18244875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  2. XM_011523849.2XP_011522151.1  lethal(2) giant larvae protein homolog 1 isoform X1

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  3. XM_011523853.2XP_011522155.1  lethal(2) giant larvae protein homolog 1 isoform X5

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  4. XM_011523852.2XP_011522154.1  lethal(2) giant larvae protein homolog 1 isoform X4

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  5. XM_011523855.2XP_011522157.1  lethal(2) giant larvae protein homolog 1 isoform X7

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  6. XM_011523851.2XP_011522153.1  lethal(2) giant larvae protein homolog 1 isoform X3

    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  7. XM_011523856.1XP_011522158.1  lethal(2) giant larvae protein homolog 1 isoform X8

    Related
    ENSP00000480006.1, ENST00000621229.1
    Conserved Domains (1) summary
    pfam08366
    Location:280379
    LLGL; LLGL2
  8. XM_011523850.2XP_011522152.1  lethal(2) giant larvae protein homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam08366
    Location:279378
    LLGL; LLGL2

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017363819.1 Reference GRCh38.p12 PATCHES

    Range
    951..5249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center