CSTPP1 (centriolar satellite-associated tubulin polyglutamylase complex regulator 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79096 |
| Gene name | Centriolar satellite-associated tubulin polyglutamylase complex regulator 1 |
| Gene symbol | CSTPP1 |
| Synonyms (NCBI Gene) |
C11orf49
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| Chromosome | 11 |
| Chromosome location | 11p11.2 |
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miRNA
miRNA information provided by mirtarbase database.
120
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H6J7 | |
| Protein name | Centriolar satellite-associated tubulin polyglutamylase complex regulator 1 | |
| Protein function | Regulator of the tubulin polyglutamylase complex (TPGC) that controls cytoskeletal organization, nuclear shape, and cilium disassembly by balancing microtubule and actin assembly (PubMed:34782749). Regulates the assembly and stability of the TPG | |
| Family and domains | ||
| Sequence |
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| Sequence length | 331 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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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)
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