Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LRRC1 Gene

Aliases for LRRC1 Gene

  • Leucine Rich Repeat Containing 1 2 3 5
  • LAP And No PDZ Protein 3 4
  • LANO Adapter Protein 3 4
  • LANO 3 4
  • LAP (Leucine-Rich Repeats And PDZ) And No PDZ Protein 3
  • Leucine-Rich Repeat-Containing Protein 1 3
  • Leucine-Rich Repeat-Containing 1 2
  • DJ523E19.1 3

External Ids for LRRC1 Gene

Previous GeneCards Identifiers for LRRC1 Gene

  • GC00U990863
  • GC06P053660
  • GC06P053706
  • GC06P053492

Summaries for LRRC1 Gene

GeneCards Summary for LRRC1 Gene

LRRC1 (Leucine Rich Repeat Containing 1) is a Protein Coding gene. Diseases associated with LRRC1 include Epilepsy, Generalized, With Febrile Seizures Plus, Type 5. An important paralog of this gene is SCRIB.

Additional gene information for LRRC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC1 Gene

Genomics for LRRC1 Gene

Regulatory Elements for LRRC1 Gene

Enhancers for LRRC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H053791 1.6 FANTOM5 ENCODE dbSUPER 15.1 +0.4 372 5 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 SP3 SP5 ZHX2 LRRC1 KLHL31 MLIP-IT1 ENSG00000227885 PIR32511
GH06H053854 0.9 ENCODE 16 +60.7 60680 1 ELF3 FOXA2 ATF1 MLX ARID4B DMAP1 THRB ZSCAN9 RARA SLC30A9 LRRC1 ENSG00000228614 MLIP-IT1 KLHL31 LOC101927189 PIR32511
GH06H053737 0.6 ENCODE 18.6 -56.5 -56492 1 ZGPAT FOXA2 TEAD1 RCOR2 MNT TEAD3 LRRC1 ENSG00000228614 KLHL31 MLIP-IT1 ENSG00000227885
GH06H053825 1.3 Ensembl ENCODE dbSUPER 8.5 +33.5 33526 5 ELF3 PKNOX1 TFAP4 SAP130 ARNT FEZF1 ZNF644 BCL11B TEAD3 ZNF664 LOC101927189 MLIP-IT1 MLIP LRRC1 KLHL31 PIR32511
GH06H053910 0.5 ENCODE 19.4 +116.9 116850 1 MAX NR3C1 MYC NR2F2 LRRC1 ENSG00000228614 MLIP ENSG00000271218 GC06M053813
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRC1 on UCSC Golden Path with GeneCards custom track

Promoters for LRRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198083 403 3401 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 SP3 SP5 ZHX2

Genomic Location for LRRC1 Gene

Chromosome:
6
Start:
53,794,497 bp from pter
End:
53,924,610 bp from pter
Size:
130,114 bases
Orientation:
Plus strand

Genomic View for LRRC1 Gene

Genes around LRRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC1 Gene

Proteins for LRRC1 Gene

  • Protein details for LRRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTT6-LRRC1_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 1
    Protein Accession:
    Q9BTT6
    Secondary Accessions:
    • Q5TGN3
    • Q9HAC0
    • Q9NVF1

    Protein attributes for LRRC1 Gene

    Size:
    524 amino acids
    Molecular mass:
    59242 Da
    Quaternary structure:
    • Interacts with DLG1 and DLG4. May form a complex with DLG1 and ERBIN, where interaction between LRRC1 and ERBIN is indirect.
    SequenceCaution:
    • Sequence=BAA91801.1; Type=Frameshift; Positions=262; Evidence={ECO:0000305};

    Alternative splice isoforms for LRRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRC1 Gene

Post-translational modifications for LRRC1 Gene

  • Ubiquitination at Lys60 and Lys381
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC1 Gene

No data available for DME Specific Peptides for LRRC1 Gene

Domains & Families for LRRC1 Gene

Gene Families for LRRC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC1 Gene

Suggested Antigen Peptide Sequences for LRRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LRRC1: view

No data available for UniProtKB/Swiss-Prot for LRRC1 Gene

Function for LRRC1 Gene

Phenotypes From GWAS Catalog for LRRC1 Gene

Phenotypes for LRRC1 Gene

genes like me logo Genes that share phenotypes with LRRC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC1 Gene

Localization for LRRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Localized at the basolateral side of epithelial cells.

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 LRRC1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LRRC1: view

Pathways & Interactions for LRRC1 Gene

SuperPathways for LRRC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA --
genes like me logo Genes that share ontologies with LRRC1: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC1 Gene

Drugs & Compounds for LRRC1 Gene

No Compound Related Data Available

Transcripts for LRRC1 Gene

Unigene Clusters for LRRC1 Gene

Leucine rich repeat containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for LRRC1 Gene

GeneLoc Exon Structure for
LRRC1
ECgene alternative splicing isoforms for
LRRC1

Expression for LRRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRRC1 Gene

This gene is overexpressed in Cervix (18.7) and Salivary gland (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRRC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LRRC1 Gene:

LRRC1

SOURCE GeneReport for Unigene cluster for LRRC1 Gene:

Hs.606493

mRNA Expression by UniProt/SwissProt for LRRC1 Gene:

Q9BTT6-LRRC1_HUMAN
Tissue specificity: Expressed strongly in testis and placenta, followed by heart, lung, kidney, thyroid, trachea, colon, prostate and pancreas.

Evidence on tissue expression from TISSUES for LRRC1 Gene

  • Lung(2.4)
genes like me logo Genes that share expression patterns with LRRC1: view

Primer Products

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 LRRC1 Gene

Orthologs for LRRC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC1 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia LRRC1 33 34
  • 93.32 (n)
cow
(Bos Taurus)
Mammalia LRRC1 33 34
  • 88.8 (n)
mouse
(Mus musculus)
Mammalia Lrrc1 33 16 34
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc1 33
  • 88.3 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC1 33 34
  • 81.99 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc1 33
  • 74.68 (n)
MGC75617 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15200 33
zebrafish
(Danio rerio)
Actinopterygii lrrc1 33 34
  • 70.17 (n)
Dr.10955 33
fruit fly
(Drosophila melanogaster)
Insecta scrib 34
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-413 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7054 34
  • 20 (a)
OneToMany
Species where no ortholog for LRRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 LRRC1 Gene

ENSEMBL:
Gene Tree for LRRC1 (if available)
TreeFam:
Gene Tree for LRRC1 (if available)

Paralogs for LRRC1 Gene

(10) SIMAP similar genes for LRRC1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LRRC1: view

Variants for LRRC1 Gene

Sequence variations from dbSNP and Humsavar for LRRC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000002501 -- 53,864,635(+) ATACT(C/T)GTGGC intron-variant
rs1000019817 -- 53,821,453(+) GGCCC(C/T)GAAAA intron-variant
rs1000031130 -- 53,808,867(+) AAATG(A/G)AAAGA intron-variant
rs1000084879 -- 53,819,870(+) TGAAT(A/G)CAGTC intron-variant
rs1000155852 -- 53,914,667(+) AGCAC(C/T)CTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC1 Gene

Variant ID Type Subtype PubMed ID
dgv1183e214 CNV loss 21293372
esv2667284 CNV deletion 23128226
esv3430400 CNV duplication 20981092
esv3609037 CNV loss 21293372
esv3609038 CNV loss 21293372
esv5680 CNV gain 19470904
nsv1034955 CNV gain 25217958
nsv476224 CNV novel sequence insertion 20440878
nsv5306 CNV insertion 18451855
nsv830664 CNV gain 17160897

Variation tolerance for LRRC1 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC1 Gene

Disorders for LRRC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards
Search LRRC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LRRC1

Genetic Association Database (GAD)
LRRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC1
genes like me logo Genes that share disorders with LRRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC1 Gene

Publications for LRRC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. (PMID: 12200217) Suzuki T … Yamakawa K (Epilepsy research 2002) 3 4 60
  4. Lano, a novel LAP protein directly connected to MAGUK proteins in epithelial cells. (PMID: 11440998) Saito H … Borg JP (The Journal of biological chemistry 2001) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for LRRC1 Gene

Sources for LRRC1 Gene

Content
Loading form....