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Aliases for LRRC1 Gene

Aliases for LRRC1 Gene

  • Leucine Rich Repeat Containing 1 2 3 5
  • Leucine-Rich Repeat-Containing 1 2 3
  • 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
  • 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 LRRC30.

No data available for Entrez Gene 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

Promoters for LRRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRRC1 on UCSC Golden Path with GeneCards custom track

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 ERBB2IP, where interaction between LRRC1 and ERBB2IP 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

Proteomics data for LRRC1 Gene at MOPED

Post-translational modifications for LRRC1 Gene

  • Ubiquitination at Lys 60 and Lys 381
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC1 Gene

Domains & Families for LRRC1 Gene

Protein Domains for LRRC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BTT6

UniProtKB/Swiss-Prot:

LRRC1_HUMAN :
  • Contains 17 LRR (leucine-rich) repeats.
Similarity:
  • Contains 17 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC1: view

No data available for Gene Families for LRRC1 Gene

Function for LRRC1 Gene

Phenotypes for LRRC1 Gene

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

Animal Model Products

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
Jensen Localization Image for LRRC1 Gene COMPARTMENTS Subcellular localization image for LRRC1 gene
Compartment Confidence
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LRRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

None

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:

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 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, MOPED, and MaxQB for LRRC1 Gene



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.
genes like me logo Genes that share expression patterns with LRRC1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia LRRC1 35
  • 88.8 (n)
  • 94.66 (a)
LRRC1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC1 35
  • 93.32 (n)
  • 97.13 (a)
LRRC1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc1 35
  • 88.68 (n)
  • 93.13 (a)
Lrrc1 16
Lrrc1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRC1 35
  • 99.43 (n)
  • 99.81 (a)
LRRC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc1 35
  • 88.3 (n)
  • 92.37 (a)
oppossum
(Monodelphis domestica)
Mammalia LRRC1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC1 35
  • 81.99 (n)
  • 87.87 (a)
LRRC1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc1 35
  • 74.68 (n)
  • 82.44 (a)
MGC75617 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15200 35
zebrafish
(Danio rerio)
Actinopterygii Dr.10955 35
lrrc1 35
  • 70.17 (n)
  • 76.1 (a)
lrrc1 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta scrib 36
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-413 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7054 36
  • 20 (a)
OneToMany
Species with no ortholog for LRRC1:
  • 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
rs9349688 - 53,897,294(+) AATCA(A/G/T)TTGGA reference, missense
rs1543356 -- 53,923,563(+) ATATC(A/G)GTTGA utr-variant-3-prime
rs1883632 -- 53,915,634(+) TTTAC(A/G)TGAAT intron-variant
rs2050159 -- 53,908,355(+) TTTCA(A/G)TCAGG intron-variant
rs2223617 -- 53,910,606(+) TTTTA(C/T)TTCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830664 CNV Gain 17160897
esv2667284 CNV Deletion 23128226
nsv5306 CNV Insertion 18451855
esv5680 CNV Gain 19470904

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

HapMap Linkage Disequilibrium report
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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
  4. Aberrant upregulation of LRRC1 contributes to human hepatocellular carcinoma. (PMID: 23645086) Li Y. … Han Z.G. (Mol. Biol. Rep. 2013) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for LRRC1 Gene

Sources for LRRC1 Gene

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