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Aliases for LRCH1 Gene

Aliases for LRCH1 Gene

  • Leucine-Rich Repeats And Calponin Homology (CH) Domain Containing 1 2 3
  • Neuronal Protein 81 3 4
  • KIAA1016 4 6
  • CHDC1 3 4
  • NP81 3 4
  • Leucine-Rich Repeat And Calponin Homology Domain-Containing Protein 1 3
  • Calponin Homology Domain-Containing Protein 1 4
  • Calponin Homology (CH) Domain Containing 1 2

External Ids for LRCH1 Gene

Previous HGNC Symbols for LRCH1 Gene

  • CHDC1

Previous GeneCards Identifiers for LRCH1 Gene

  • GC13P044925
  • GC13P046025
  • GC13P047127
  • GC13P027920

Summaries for LRCH1 Gene

Entrez Gene Summary for LRCH1 Gene

  • This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

GeneCards Summary for LRCH1 Gene

LRCH1 (Leucine-Rich Repeats And Calponin Homology (CH) Domain Containing 1) is a Protein Coding gene. Diseases associated with LRCH1 include osteoarthritis. An important paralog of this gene is LRRC30.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRCH1 Gene

Genomics for LRCH1 Gene

Regulatory Elements for LRCH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRCH1 Gene

Start:
46,553,161 bp from pter
End:
46,753,041 bp from pter
Size:
199,881 bases
Orientation:
Plus strand

Genomic View for LRCH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRCH1 Gene

Proteins for LRCH1 Gene

  • Protein details for LRCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2L9-LRCH1_HUMAN
    Recommended name:
    Leucine-rich repeat and calponin homology domain-containing protein 1
    Protein Accession:
    Q9Y2L9
    Secondary Accessions:
    • B7ZLL5
    • F8W6F0
    • Q17R43
    • Q2KHR1
    • Q5TBU9
    • Q7Z5F6
    • Q7Z5F7

    Protein attributes for LRCH1 Gene

    Size:
    728 amino acids
    Molecular mass:
    80875 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76860.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH70793.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73643.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12229.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for LRCH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRCH1 Gene

Proteomics data for LRCH1 Gene at MOPED

Post-translational modifications for LRCH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRCH1 Gene

No data available for DME Specific Peptides for LRCH1 Gene

Domains for LRCH1 Gene

Protein Domains for LRCH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2L9

UniProtKB/Swiss-Prot:

LRCH1_HUMAN :
  • Q9Y2L9
Domain:
  • Contains 1 CH (calponin-homology) domain.
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRCH1: view

No data available for Gene Families for LRCH1 Gene

Function for LRCH1 Gene

Gene Ontology (GO) - Molecular Function for LRCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with LRCH1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRCH1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LRCH1 Gene

Localization for LRCH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRCH1 Gene COMPARTMENTS Subcellular localization image for LRCH1 gene
Compartment Confidence
plasma membrane 3
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LRCH1 Gene

Pathways for LRCH1 Gene

SuperPathways for LRCH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRCH1 Gene

None

No data available for Pathways by source for LRCH1 Gene

Transcripts for LRCH1 Gene

Unigene Clusters for LRCH1 Gene

Leucine-rich repeats and calponin homology (CH) domain containing 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRCH1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LRCH1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRCH1 Gene

No ASD Table

Relevant External Links for LRCH1 Gene

GeneLoc Exon Structure for
LRCH1
ECgene alternative splicing isoforms for
LRCH1

Expression for LRCH1 Gene

mRNA expression in normal human tissues for LRCH1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LRCH1 Gene

SOURCE GeneReport for Unigene cluster for LRCH1 Gene Hs.507971

genes like me logo Genes that share expressions with LRCH1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LRCH1 Gene

Orthologs for LRCH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRCH1 35
  • 99.43 (n)
  • 99.34 (a)
LRCH1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRCH1 35
  • 88.26 (n)
  • 90.48 (a)
LRCH1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRCH1 35
  • 91.14 (n)
  • 92.57 (a)
LRCH1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrch1 35
  • 82.43 (n)
  • 83.75 (a)
Lrch1 16
Lrch1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRCH1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRCH1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrch1 35
  • 84.64 (n)
  • 88.02 (a)
chicken
(Gallus gallus)
Aves LRCH1 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19625 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lrch1 35
  • 68.86 (n)
  • 66.41 (a)
zebrafish
(Danio rerio)
Actinopterygii LRCH1 36
  • 59 (a)
OneToOne
si:ch211-260b17.8 35
  • 62.44 (n)
  • 62.74 (a)
Species with no ortholog for LRCH1:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for LRCH1 Gene

ENSEMBL:
Gene Tree for LRCH1 (if available)
TreeFam:
Gene Tree for LRCH1 (if available)

Paralogs for LRCH1 Gene

Selected SIMAP similar genes for LRCH1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LRCH1: view

Variants for LRCH1 Gene

Sequence variations from dbSNP and Humsavar for LRCH1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs837 -- 46,650,637(-) GACAA(C/T)ATAAC intron-variant
rs838 -- 46,650,570(-) TTTTT(A/T)AAAAA intron-variant
rs706620 -- 46,703,958(-) GGTTA(A/G)TTGGG intron-variant
rs706621 -- 46,699,323(-) CAAAA(C/G)ACACA intron-variant
rs716223 -- 46,622,530(+) TGTCA(G/T)TAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRCH1 Gene

Variant ID Type Subtype PubMed ID
nsv455876 CNV Gain 19166990
nsv1026 CNV Insertion 18451855
esv259618 OTHER Complex 20981092
esv988509 CNV Insertion 20482838
esv1496328 CNV Insertion 17803354
esv2747365 CNV Deletion 23290073

Relevant External Links for LRCH1 Gene

HapMap Linkage Disequilibrium report
LRCH1
Human Gene Mutation Database (HGMD)
LRCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRCH1 Gene

Disorders for LRCH1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for LRCH1 Gene including...

Search for LRCH1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for LRCH1 Gene

Relevant External Links for LRCH1

Genetic Association Database (GAD)
LRCH1
Human Genome Epidemiology (HuGE) Navigator
LRCH1
genes like me logo Genes that share disorders with LRCH1: view

No data available for UniProtKB/Swiss-Prot for LRCH1 Gene

Publications for LRCH1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4
  2. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  3. Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling. (PMID: 16447229) Spector T.D. … Braun A. (Arthritis Rheum. 2006) 3 48
  4. Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus. (PMID: 16891653) Snelling S. … Loughlin J. (Rheumatology (Oxford) 2007) 3 48
  5. Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system. (PMID: 20237151) Zintzaras E. … Karachalios T. (Am. J. Epidemiol. 2010) 3 48

Products for LRCH1 Gene

Sources for LRCH1 Gene

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