CAMSAP1 (calmodulin regulated spectrin associated protein 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 157922 |
| Gene name | Calmodulin regulated spectrin associated protein 1 |
| Gene symbol | CAMSAP1 |
| Synonyms (NCBI Gene) |
CDCBM12
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| Chromosome | 9 |
| Chromosome location | 9q34.3 |
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miRNA
miRNA information provided by mirtarbase database.
531
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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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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Q5T5Y3 | ||||||||||||||||||||
| Protein name | Calmodulin-regulated spectrin-associated protein 1 | ||||||||||||||||||||
| Protein function | Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifi | ||||||||||||||||||||
| PDB | 5M54 , 5M5C , 6QUS , 6QVJ | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
MVDASGRAAAEGWRKMEAPPDGAADLVPLDRYDAARAKIAANLQWICAKAYGRDNIPEDL |
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| Sequence length | 1602 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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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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Related Genes
Genes most often co-reported with CAMSAP1 across shared curated disease and pathway associations.
5
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to CAMSAP1 (see Related Genes above), that are NOT already directly curated for CAMSAP1 itself -- a lead worth checking, not a confirmed association.
2
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