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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN THYROID GLAND NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke CTD_human_DG 29531354
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke CTD_human_DG 29531354
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident Stroke GWASCAT_DG 29531354
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chondrosarcoma Chondrosarcoma BEFREE 16447229
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 32210709 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37365285 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 16447229, 16891653
★☆☆☆☆
Found in Text Mining only