CAMSAP3 - calmodulin regulated spectrin associated protein family member 3 Gene

Homo sapiens

Also known as NEZHA; PPP1R80; KIAA1543

Gene ID: 57662 | Gene type: protein coding

About CAMSAP3

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,595,863-7,618,304 (from NCBI)

This gene has 4 transcripts (splice variants), 269 orthologues and 2 paralogues. Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues.

Summary

Enables actin filament binding activity and microtubule minus-end binding activity. Involved in several processes, including microtubule Cytoskeleton organization; regulation of organelle organization; and zonula adherens maintenance. Located in cytoplasm; nucleoplasm; and zonula adherens. Colocalizes with centrosome and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]

CAMSAP3 Products(2)

mRNA	Protein	Name
NM_001080429.3	NP_001073898.1	calmodulin-regulated spectrin-associated protein 3 isoform 1
NM_020902.2	NP_065953.1	calmodulin-regulated spectrin-associated protein 3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	27693509	GOA
enables microtubule minus-end binding	IDA IDA: Inferred from direct assay	19041755	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24486153	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in epithelial cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	19041755	GOA
involved in establishment of epithelial cell apical/basal polarity	IDA IDA: Inferred from direct assay	26715742	GOA
involved in establishment or maintenance of microtubule cytoskeleton polarity	IDA IDA: Inferred from direct assay	26715742	GOA
involved in microtubule anchoring	IMP IMP: Inferred from mutant phenotype	19041755	GOA
involved in microtubule cytoskeleton organization	IDA IDA: Inferred from direct assay	24486153	GOA
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	23169647	GOA
involved in regulation of Golgi organization	IDA IDA: Inferred from direct assay	28089391	GOA
involved in regulation of cell migration	IDA IDA: Inferred from direct assay	27693509	GOA
involved in regulation of focal adhesion assembly	IDA IDA: Inferred from direct assay	27693509	GOA
involved in regulation of microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	19041755	GOA
involved in regulation of microtubule polymerization	IDA IDA: Inferred from direct assay	24486153	GOA
involved in regulation of organelle organization	IMP IMP: Inferred from mutant phenotype	23169647	GOA
involved in zonula adherens maintenance	IMP IMP: Inferred from mutant phenotype	19041755	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with centrosome	IDA IDA: Inferred from direct assay	23169647	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19041755	GOA
colocalizes with microtubule minus-end	IDA IDA: Inferred from direct assay	24486153	GOA
located in zonula adherens	IDA IDA: Inferred from direct assay	19041755	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAMSAP3 Protein Structure

CAMSAP_CH

CAMSAP_CKK

0
200
400
600
800
1000
1249 a.a.

Protein Preferred Names

Protein Names

calmodulin-regulated spectrin-associated protein 3

protein phosphatase 1, regulatory subunit 80

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 21

DFNA21	Autosomal Dominant Nonsyndromic Deafness 21
Autosomal Dominant Deafness 21	Deafness, Autosomal Dominant, 21

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01873	CAMSAP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CAMSAP3	VGNC	VGNC:26731
Canis familiaris	CAMSAP3	VGNC	VGNC:38691
Mus musculus	CAMSAP3	MGD	MGI:1916947
Felis catus	CAMSAP3	VGNC	VGNC:102016
Macaca mulatta	CAMSAP3	VGNC	VGNC:70669
Rattus norvegicus	CAMSAP3	RGD	RGD:1597412

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