Aliases for LRIG1 Gene

Aliases for LRIG1 Gene

  • Leucine Rich Repeats And Immunoglobulin Like Domains 1 2 3 5
  • LIG-1 2 3 4
  • LIG1 2 3 4
  • Leucine-Rich Repeats And Immunoglobulin-Like Domains Protein 1 3 4
  • Ortholog Of Mouse Integral Membrane Glycoprotein LIG-1 2 3
  • Leucine-Rich Repeat Protein LRIG1 2 3
  • DKFZP586O1624 2
  • LRIG1 5

External Ids for LRIG1 Gene

Previous GeneCards Identifiers for LRIG1 Gene

  • GC03M065048
  • GC03M065899
  • GC03M066259
  • GC03M066362
  • GC03M066511
  • GC03M066429

Summaries for LRIG1 Gene

GeneCards Summary for LRIG1 Gene

LRIG1 (Leucine Rich Repeats And Immunoglobulin Like Domains 1) is a Protein Coding gene. Diseases associated with LRIG1 include Hyaline Fibromatosis Syndrome and Verrucous Carcinoma. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling by GPCR. An important paralog of this gene is LRIG3.

UniProtKB/Swiss-Prot Summary for LRIG1 Gene

  • Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.

Gene Wiki entry for LRIG1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRIG1 Gene

Genomics for LRIG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRIG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J066491 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +4.3 4255 10.1 SP1 KLF9 CEBPA POLR2A ZIC2 ZBTB10 CTCF KLF11 CHD2 FEZF1 LRIG1 SLC25A26 lnc-MAGI1-4
GH03J066427 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 20 +70.8 70763 7.8 JUND ZNF10 YY1 FEZF1 SP2 FOXA2 RXRA RFX5 ZBTB33 EBF1 LRIG1 SLC25A26 HSALNG0026632 HSALNG0026631
GH03J066439 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 18.3 +59.1 59070 4.8 CEBPA JUND POLR2A YY1 CEBPB ETS1 HOMEZ SIN3A SAP130 GABPB1 LRIG1 SLC25A26 HSALNG0026632 lnc-MAGI1-4
GH03J066471 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +25.8 25771 8.2 ZNF600 SSRP1 CEBPA YY1 MXD4 BCL11A CEBPB FOXA1 KLF11 TRIM22 LRIG1 lnc-MAGI1-4 SLC25A26
GH03J066448 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.4 +49.6 49562 7 ZIC2 YY1 FEZF1 RXRA BHLHE40 HNF4A RAD21 MAX GATA2 HLF LRIG1 SLC25A26 HSALNG0026632 lnc-MAGI1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRIG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRIG1

Top Transcription factor binding sites by QIAGEN in the LRIG1 gene promoter:
  • AML1a
  • CUTL1
  • FOXI1
  • HFH-3
  • POU2F1
  • POU2F1a
  • RSRFC4
  • SRY

Genomic Locations for LRIG1 Gene

Latest Assembly
chr3:66,378,797-66,501,263
(GRCh38/hg38)
Size:
122,467 bases
Orientation:
Minus strand

Previous Assembly
chr3:66,429,221-66,551,545
(GRCh37/hg19 by Entrez Gene)
Size:
122,325 bases
Orientation:
Minus strand

chr3:66,429,221-66,551,687
(GRCh37/hg19 by Ensembl)
Size:
122,467 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr3(PATCHES):355,693-371,107 (-)

Genomic View for LRIG1 Gene

Genes around LRIG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRIG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRIG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRIG1 Gene

Proteins for LRIG1 Gene

  • Protein details for LRIG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JA1-LRIG1_HUMAN
    Recommended name:
    Leucine-rich repeats and immunoglobulin-like domains protein 1
    Protein Accession:
    Q96JA1
    Secondary Accessions:
    • Q6IQ51
    • Q96CF9
    • Q9BYB8
    • Q9UFI4

    Protein attributes for LRIG1 Gene

    Size:
    1093 amino acids
    Molecular mass:
    119113 Da
    Quaternary structure:
    • Interacts (via extracellular LRR and Ig-like domains) with EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 (via extracellular domain) (PubMed:15282549). The physiological relevance of the interaction is controversial; LRIG1 may have low affinity for EGFR, and interaction may occur only when high levels of both proteins are present (PubMed:25765764).

    Three dimensional structures from OCA and Proteopedia for LRIG1 Gene

    Alternative splice isoforms for LRIG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRIG1 Gene

Post-translational modifications for LRIG1 Gene

  • Glycosylation at Asn74, Asn150, Asn246, Asn292, Asn318, Thr623, and Asn684
  • Ubiquitination at Lys603
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for LRIG1
  • Boster Bio Antibodies for LRIG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LRIG1

No data available for DME Specific Peptides for LRIG1 Gene

Domains & Families for LRIG1 Gene

Gene Families for LRIG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LRIG1 Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Leucine-rich repeat signature

Suggested Antigen Peptide Sequences for LRIG1 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeats and immunoglobulin-like domains protein 1 (LRIG1_HUMAN)
  • Leucine-rich repeat protein LRIG1 (Q5XWD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JA1

UniProtKB/Swiss-Prot:

LRIG1_HUMAN :
  • Contains LRR and Ig-domains that can mediate low-affinity interaction with EGFR (PubMed:25765764). The LRRs and the Ig-domains are each sufficient for EGFR/ERBB1 binding. This interaction is abolished only when both the LRRs and the Ig-domains are deleted (PubMed:15282549).
Domain:
  • Contains LRR and Ig-domains that can mediate low-affinity interaction with EGFR (PubMed:25765764). The LRRs and the Ig-domains are each sufficient for EGFR/ERBB1 binding. This interaction is abolished only when both the LRRs and the Ig-domains are deleted (PubMed:15282549).
genes like me logo Genes that share domains with LRIG1: view

Function for LRIG1 Gene

Molecular function for LRIG1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.
UniProtKB/Swiss-Prot Induction:
By EGF.

Phenotypes From GWAS Catalog for LRIG1 Gene

Gene Ontology (GO) - Molecular Function for LRIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15282549
genes like me logo Genes that share ontologies with LRIG1: view
genes like me logo Genes that share phenotypes with LRIG1: view

Animal Models for LRIG1 Gene

MGI Knock Outs for LRIG1:
  • Lrig1 Lrig1<tm1Ita>
  • Lrig1 Lrig1<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRIG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LRIG1 Gene

Localization for LRIG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRIG1 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRIG1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with LRIG1: view

Pathways & Interactions for LRIG1 Gene

genes like me logo Genes that share pathways with LRIG1: view

Pathways by source for LRIG1 Gene

SIGNOR curated interactions for LRIG1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LRIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0022405 hair cycle process IEA --
GO:0032474 otolith morphogenesis IEA --
GO:0060384 innervation IEA --
genes like me logo Genes that share ontologies with LRIG1: view

Drugs & Compounds for LRIG1 Gene

(1) Drugs for LRIG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with LRIG1: view

Transcripts for LRIG1 Gene

mRNA/cDNA for LRIG1 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRIG1

Alternative Splicing Database (ASD) splice patterns (SP) for LRIG1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1: - - - - -
SP2:
SP3: -
SP4: - -
SP5:
SP6:
SP7: -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:

ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - -
SP11:
SP12:

Relevant External Links for LRIG1 Gene

GeneLoc Exon Structure for
LRIG1

Expression for LRIG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRIG1 Gene

Protein differential expression in normal tissues from HIPED for LRIG1 Gene

This gene is overexpressed in Blymphocyte (56.0) and Plasma (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRIG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRIG1

SOURCE GeneReport for Unigene cluster for LRIG1 Gene:

Hs.518055

mRNA Expression by UniProt/SwissProt for LRIG1 Gene:

Q96JA1-LRIG1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for LRIG1 Gene

  • Nervous system(4.5)
  • Intestine(2.8)
  • Skin(2.7)
  • Stomach(2.5)
  • Lung(2.4)
  • Pancreas(2.4)
  • Muscle(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with LRIG1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRIG1 Gene

Orthologs for LRIG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRIG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRIG1 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRIG1 29 30
  • 85.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRIG1 29 30
  • 84.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrig1 29 16 30
  • 83.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrig1 29
  • 83.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia LRIG1 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRIG1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRIG1 29 30
  • 72.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRIG1 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrig1 29
  • 68.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii lrig1 29 30
  • 63.2 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta lbk 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sma-10 30
  • 30 (a)
OneToMany
Species where no ortholog for LRIG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LRIG1 Gene

ENSEMBL:
Gene Tree for LRIG1 (if available)
TreeFam:
Gene Tree for LRIG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRIG1: view image
Alliance of Genome Resources:
Additional Orthologs for LRIG1

Paralogs for LRIG1 Gene

(6) SIMAP similar genes for LRIG1 Gene using alignment to 2 proteins:

  • LRIG1_HUMAN
  • Q5XWD3_HUMAN
genes like me logo Genes that share paralogs with LRIG1: view

Variants for LRIG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRIG1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs116809906 Benign: not provided 66,383,311(-) G/A
NM_015541.2(LRIG1):c.2162C>T (p.Pro721Leu)
MISSENSE
rs1403625 Benign: not specified 66,500,332(-) G/C
NM_015541.2(LRIG1):c.76C>G (p.Leu26Val)
MISSENSE
rs1403626 Benign: not specified 66,500,338(-) G/Cp.Leu24Val
NM_015541.2(LRIG1):c.70C>G (p.Leu24Val)
MISSENSE
rs146580942 Likely Benign: not provided 66,380,631(-) C/T
NM_015541.2(LRIG1):c.3001G>A (p.Asp1001Asn)
MISSENSE
rs147184597 Likely Benign: not provided 66,380,855(-) C/A
NM_015541.2(LRIG1):c.2777G>T (p.Gly926Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRIG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LRIG1 Gene

Variant ID Type Subtype PubMed ID
dgv8362n54 CNV loss 21841781
dgv8363n54 CNV gain 21841781
esv23340 CNV loss 19812545
esv2658504 CNV deletion 23128226
esv2725369 CNV deletion 23290073
esv2725370 CNV deletion 23290073
esv3596438 CNV loss 21293372
nsv1074599 CNV deletion 25765185
nsv237304 CNV deletion 16902084
nsv478032 CNV novel sequence insertion 20440878
nsv516847 CNV loss 19592680
nsv590546 CNV gain 21841781
nsv590550 CNV loss 21841781
nsv590553 CNV gain+loss 21841781

Variation tolerance for LRIG1 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.94; 94.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRIG1 Gene

Human Gene Mutation Database (HGMD)
LRIG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRIG1
Leiden Open Variation Database (LOVD)
LRIG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRIG1 Gene

Disorders for LRIG1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LRIG1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hyaline fibromatosis syndrome
  • hfs
verrucous carcinoma
  • verrucous squamous carcinoma
cervical adenocarcinoma
  • adenocarcinoma cervix uteri
urofacial syndrome 1
  • ufs1
epidermal appendage tumor
  • neoplasm of skin with adnexal differentiation
- elite association - COSMIC cancer census association via MalaCards
Search LRIG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LRIG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LRIG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRIG1 Gene

Publications for LRIG1 Gene

  1. Cloning, characterization, and expression of human LIG1. (PMID: 11414704) Nilsson J … Hedman H (Biochemical and biophysical research communications 2001) 2 3 4 22
  2. Is LRIG1 a tumour suppressor gene at chromosome 3p14.3? (PMID: 12234026) Hedman H … Henriksson R (Acta oncologica (Stockholm, Sweden) 2002) 2 3 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PMID: 21076409) Sotoodehnia N … Arking DE (Nature genetics 2010) 3 40
  5. Increased copy number at 3p14 in breast cancer. (PMID: 16168117) Ljuslinder I … Henriksson R (Breast cancer research : BCR 2005) 3 22

Products for LRIG1 Gene

Sources for LRIG1 Gene