Gene Gene information from NCBI Gene database.
Entrez ID 23143
Gene name Leucine rich repeats and calponin homology domain containing 1
Gene symbol LRCH1
Synonyms (NCBI Gene)
CHDC1NP81
Chromosome 13
Chromosome location 13q14.13-q14.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
261
miRTarBase ID miRNA Experiments Reference
MIRT664088 hsa-miR-4517 HITS-CLIP 23824327
MIRT664087 hsa-miR-5583-3p HITS-CLIP 23824327
MIRT641222 hsa-miR-654-3p HITS-CLIP 23824327
MIRT641221 hsa-miR-6884-3p HITS-CLIP 23824327
MIRT641220 hsa-miR-6830-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24255178, 25416956, 28028151, 29467281, 31515488, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm IMP 28028151
GO:0034260 Process Negative regulation of GTPase activity IDA 28028151
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610368 20309 ENSG00000136141
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2L9
Protein name Leucine-rich repeat and calponin homology domain-containing protein 1 (Calponin homology domain-containing protein 1) (Neuronal protein 81) (NP81)
Protein function Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 103 155 Leucine rich repeat Repeat
PF13855 LRR_8 166 223 Leucine rich repeat Repeat
PF13855 LRR_8 211 268 Leucine rich repeat Repeat
PF00307 CH 576 692 Calponin homology (CH) domain Domain
Sequence
MATPGSEPQPFVPALSVATLHPLHHPHHHHHHHQHHGGTGAPGGAGGGGGGSGGFNLPLN
RGLERALEEAANSGGLNLSARKLKEFPRTAAPGHDLSDTVQADLSKNRLVEVPMELCHFV
SLEILNLYHNCIRVIPEAIVNLQMLTYLNLSRNQL
SALPACLCGLPLKVLIASNNKLGSL
PEEIGQLKQLMELDVSCNEITALPQQIGQL
KSLRELNVRRNYLKVLPQELVDLSLVKFDF
SCNKVLVIPICFREMKQLQVLLLENNPL
QSPPAQICTKGKVHIFKYLSIQACQIKTADSL
YLHTMERPHLHQHVEDGKKDSDSGVGSDNGDKRLSATEPSDEDTVSLNVPMSNIMEEEQI
IKEDSCHRLSPVKGEFHQEFQPEPSLLGDSTNSGEERDQFTDRADGLHSEFMNYKARAED
CEELLRIEEDVHWQTEGIISSSKDQDMDIAMIEQLREAVDLLQDPNGLSTDITERSVLNL
YPMGSAEALELQDSALNGQIQLETSPVCEVQSDLTLQSNGSQYSPNEIRENSPAVSPTTN
STAPFGLKPRSVFLRPQRNLESIDPQFTIRRKMEQMREEKELVEQLRESIEMRLKVSLHE
DLGAALMDGVVLCHLVNHIRPRSVASIHVPSPAVPKLSMAKCRRNVENFLEACRKLGVPE
ADLCSPCDILQLDFRHIRKTVDTLLALGEKAP
PPTSALRSRDLIGFCLVHILFIVLVYIT
YHWNALSA
Sequence length 728
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs842380 RCV005911970
Clear cell carcinoma of kidney Benign rs842380 RCV005911971
Colon adenocarcinoma Benign rs842380 RCV005911968
Hepatocellular carcinoma Benign rs842380 RCV005911969
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carbon Monoxide Poisoning Associate 31842790
Colitis Ulcerative Inhibit 32210709
Colorectal Neoplasms Associate 37365285
Diabetes Mellitus Associate 37365285
Head and Neck Neoplasms Associate 35725478
Osteoarthritis Hip Associate 27974301
Osteoarthritis Knee Associate 16447229
Rotator Cuff Injuries Associate 35725478
Stroke Associate 34727735