LRCH1 (leucine rich repeats and calponin homology domain containing 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23143 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Leucine rich repeats and calponin homology domain containing 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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LRCH1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CHDC1, NP81 |
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Chromosome
Chromosome number
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13 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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13q14.13-q14.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| Sequence |
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| Sequence length | 728 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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