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FLASH GENE

Symbol

CAMSAP1

contributors: mct - updated : 07-12-2022

HGNC name	calmodulin regulated spectrin-associated protein 1
HGNC id	19946

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LMNDDBS lissencephaly, microcephaly, severe neurodevelopmental delay, blindness, and seizures
Location	9q34.3      Physical location : 138.700.333 - 138.799.005
Synonym name	CAMSAP1 protein
	microtubule-binding protein Patronin 1
	epididymis secretory sperm binding protein
Synonym symbol(s)	FLJ31228, DKFZp434F195, DKFZp434G2311, PRO2405, bA100C15.1, MGC163452

DNA

TYPE	functioning gene
STRUCTURE	99.06 kb     17 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001411031 16 - 7876 NP_001397960 - 1324 - 2014 24706919 NM_015447 17 - 7650 NP_056262 - 1602 - 2014 24706919

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain cerebral cortex     Homo sapiens Fetal   brain limbic system hippocampus     Homo sapiens Adult   brain forebrain cerebral cortex     Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Mus musculus Nervous neuron Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a CAMSAP-conserved region 1 (CC1), that is a functional region of CAMSAP1, which links spectrin-binding to neurite outgrowth
	a “CKK” domain at the C terminus with an additional 5 prime calponin homology (CH) domain and intermediate coiled-coil (CC) motif also invariably present

HOMOLOGY

Homologene

FAMILY

CAMSAP/Patronin family

CATEGORY

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	localizes to the mitotic spindle

basic FUNCTION	members of the CAMSAP/Patronin family all localize to and protect minus-ends but have evolved distinct effects on MT dynamics
	CAMSAP1, CAMSAP2, CAMSAP3 act to polarise microtubules along the apical-basal axis to enable apical transport of RAB11A endosomes
	CAMSAP1 plays a decisive role in the neuronal axon identification process by regulating the number of microtubules (MTs)
	WDR47, CAMSAP1, CAMSAP2, CAMSAP3, and Katanin function together for the generation of non-centrosomal microtubule arrays in polarized subcellular compartments
	fundamental role of CAMSAP1 in neuronal migration and brain development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	CAMSAP1, CAMSAP2, CAMSAP3 bind specifically to MT minus-ends and protect them against kinesin-13-induced depolymerization
	WDR47 facilitates proper neurite remodeling through CAMSAP1, CAMSAP2, CAMSAP3 to fine-tune regional microtubule dynamics and organization during early stages of neuronal polarization

cell & other

REGULATION

Phosphorylated by

MARK2 (MARK2 kinase phosphorylates CAMSAP1 and affects its ability to bind to microtubules (MTs), which in turn changes the protection of MT minus-ends)

ASSOCIATED DISORDERS

corresponding disease(s)

LMNDDBS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Camsap1 knockout mouse model (Camsap1-/-) manifested preweaning lethality with epileptic seizures and abnormal cortical lamination, highly suggestive of impaired neuronal migration