CAMSAP1

CAMSAP1
Identifiers
Aliases	CAMSAP1, PRO2405, bA100C15.1, calmodulin regulated spectrin associated protein 1
External IDs	OMIM: 613774; MGI: 3036242; HomoloGene: 19202; GeneCards: CAMSAP1; OMA:CAMSAP1 - orthologs
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	25,873,294 bp
RNA expression pattern
	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
	tail of embryo; ; Rostral migratory stream; ; neural layer of retina; ; zygote; ; primary oocyte; ; secondary oocyte; ; genital tubercle; ; otic vesicle; ; ventromedial nucleus; ; lateral septal nucleus;
	More reference expression data
	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
	157922
	227634
	n/a
	ENSMUSG00000026933
	Q5T5Y3
	A2AHC3
	NM_015447
	NM_001115076; NM_001276359; NM_001276360; NM_001276361; NM_001372499
	NP_056262
NP_001263288; NP_001263289; NP_001263290; NP_001359428; NP_001394979;
	NP_001394980; NP_001394981; NP_001394982; NP_001394983
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026933 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Baines, A. J.; Bignone, P. A.; King, M. D.A.; Maggs, A. M.; Bennett, P. M.; Pinder, J. C.; Phillips, G. W. (2009-09-01). "The CKK Domain (DUF1781) Binds Microtubules and Defines the CAMSAP/ssp4 Family of Animal Proteins". Molecular Biology and Evolution. 26 (9): 2005–2014. doi:10.1093/molbev/msp115. ISSN 0737-4038. PMID 19508979.
^ Zhou Z, Xu H, Li Y, Yang M, Zhang R, Shiraishi A, et al. (September 2020). "CAMSAP1 breaks the homeostatic microtubule network to instruct neuronal polarity". Proceedings of the National Academy of Sciences of the United States of America. 117 (36): 22193–22203. Bibcode:2020PNAS..11722193Z. doi:10.1073/pnas.1913177117. PMC 7486724. PMID 32839317.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000026933 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] Baines, A. J.; Bignone, P. A.; King, M. D.A.; Maggs, A. M.; Bennett, P. M.; Pinder, J. C.; Phillips, G. W. (2009-09-01). "The CKK Domain (DUF1781) Binds Microtubules and Defines the CAMSAP/ssp4 Family of Animal Proteins". Molecular Biology and Evolution. 26 (9): 2005–2014. doi:10.1093/molbev/msp115. ISSN 0737-4038. PMID 19508979.

[5] Zhou Z, Xu H, Li Y, Yang M, Zhang R, Shiraishi A, et al. (September 2020). "CAMSAP1 breaks the homeostatic microtubule network to instruct neuronal polarity". Proceedings of the National Academy of Sciences of the United States of America. 117 (36): 22193–22203. Bibcode:2020PNAS..11722193Z. doi:10.1073/pnas.1913177117. PMC 7486724. PMID 32839317.

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[2]

[3]

[4]

[5]

Clinical significance

See also

References