Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23143
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeats and calponin homology domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRCH1
Synonyms (NCBI Gene) Gene synonyms aliases
CHDC1, NP81
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.13-q14.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24255178, 25416956, 28028151, 31515488
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IMP 28028151
GO:0034260 Process Negative regulation of GTPase activity IDA 28028151
GO:1990869 Process Cellular response to chemokine IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610368 20309 ENSG00000136141
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Ischemic stroke Ischemic stroke 29531354 ClinVar
Ischemic Stroke Ischemic Stroke GWAS
Schizophrenia Schizophrenia GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
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