CAMSAP1

CAMSAP1
Identifiers
Aliases	CAMSAP1, PRO2405, bA100C15.1, calmodulin regulated spectrin associated protein 1
External IDs	OMIM: 613774 MGI: 3036242 HomoloGene: 19202 GeneCards: CAMSAP1
Gene location (Mouse) Chr. Chromosome 2 (mouse)[1] Band 2|2 A3 Start 25,816,850 bp[1] End 25,873,294 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte endothelial cell ganglionic eminence sperm middle temporal gyrus amniotic fluid Brodmann area 23 gastrocnemius muscle corpus callosum cerebellum Top expressed in secondary oocyte ventromedial nucleus olfactory tubercle primary motor cortex mammillary body seminiferous tubule otic placode lateral hypothalamus paraventricular nucleus of hypothalamus barrel cortex More reference expression data BioGPS n/a
Gene ontology Molecular function spectrin binding calmodulin binding microtubule binding microtubule minus-end binding Cellular component cytoskeleton cytoplasm microtubule microtubule minus-end Biological process cytoskeleton organization regulation of cell morphogenesis neuron projection development microtubule cytoskeleton organization regulation of microtubule polymerization negative regulation of microtubule depolymerization cytoplasmic microtubule organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 157922 227634 Ensembl n/a ENSMUSG00000026933 UniProt Q5T5Y3 A2AHC3 RefSeq (mRNA) NM_015447 NM_001115076 NM_001276359 NM_001276360 NM_001276361 NM_001372499 RefSeq (protein) NP_056262 NP_001263288 NP_001263289 NP_001263290 NP_001359428 NP_001394979 NP_001394980 NP_001394981 NP_001394982 NP_001394983 Location (UCSC) n/a Chr 2: 25.82 – 25.87 Mb PubMed search [2] [3]
Wikidata
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Calmodulin-regulated spectrin-associated protein 1 (CAMSAP1) is a human protein encoded by the gene CAMSAP1. Like other CAMSAP-family proteins, it is a microtubule minus-end anchor, and binds microtubules through its CKK domain.^[4]

Clinical significance

CAMSAP1 is vital for neuron polarisation, and so mice that lack CAMSAP1 die of epileptic seizures.^[5]

See also

• CAMSAP2
• CAMSAP3

References