CAMSAP3 calmodulin regulated spectrin associated protein family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAMSAP3provided by HGNC
Official Full Name: calmodulin regulated spectrin associated protein family member 3provided by HGNC
Primary source: HGNC:HGNC:29307
See related: Ensembl:ENSG00000076826 MIM:612685; AllianceGenome:HGNC:29307
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEZHA; PPP1R80; KIAA1543
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; microtubule cytoskeleton; and zonula adherens. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7595863..7618304)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7596573..7619187)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7660749..7683190)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules.
Title: CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules.
CAMSAP3, a microtubule orientation regulator, plays a vital role in manifesting differentiation-dependent characteristics in keratinocytes.
Title: CAMSAP3, a microtubule orientation regulator, plays a vital role in manifesting differentiation-dependent characteristics in keratinocytes.
CAMSAP3 negatively regulates lung cancer cell invasion and angiogenesis through nucleolin/HIF-1alpha mRNA complex stabilization.
Title: CAMSAP3 negatively regulates lung cancer cell invasion and angiogenesis through nucleolin/HIF-1α mRNA complex stabilization.
Rab14/MACF2 complex regulates endosomal targeting during cytokinesis.
Title: Rab14/MACF2 complex regulates endosomal targeting during cytokinesis.
Findings suggest that CAMSAP3 functions to protect lung carcinoma cells against EMT by suppressing Akt activity via microtubule regulation and that CAMSAP3 loss promotes EMT in these cells.
Title: Loss of CAMSAP3 promotes EMT via the modification of microtubule-Akt machinery.
data suggest that CDH23-C is a CAMSAP3/Marshalin-binding protein that can modify MT networks indirectly through its interaction with CAMSAP3/Marshalin.
Title: Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3's Function.
CAMSAP3-dependent Golgi vesicle clustering and graded microtubule dynamics
Title: CAMSAP3-dependent microtubule dynamics regulates Golgi assembly in epithelial cells.
in mammalian intestinal epithelial cells, the spectraplakin ACF7 (also known as MACF1) specifically binds to CAMSAP3 and is required for the apical localization of CAMSAP3-decorated microtubule minus ends.
Title: Control of apico-basal epithelial polarity by the microtubule minus-end-binding protein CAMSAP3 and spectraplakin ACF7.
ACF7, a member of the spectraplakin family of cytoskeletal crosslinking proteins, interacts with Nezha (also called CAMSAP3) at the minus ends of noncentrosomal microtubules and anchors them to actin filaments.
Title: The CAMSAP3-ACF7 Complex Couples Noncentrosomal Microtubules with Actin Filaments to Coordinate Their Dynamics.
These findings demonstrate that apically localized CAMSAP3 determines the proper orientation of microtubules, and in turn that of organelles, in mature mammalian epithelial cells.
Title: CAMSAP3 orients the apical-to-basal polarity of microtubule arrays in epithelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef-mediated downregulation of HLA (MHCI) may be affected by/inhibited by CAMSAP3 as demonstrated by siRNA genome-wide screen [in HeLa cells)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S76 (e-PCR)
- UniSTS:146812

D19S905 (e-PCR)
- UniSTS:7595

RH47063 (e-PCR)
- UniSTS:18923

SGC33793 (e-PCR)
- UniSTS:38386

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microtubule minus-end binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo development ending in birth or egg hatching	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of epithelial cell apical/basal polarity	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of microtubule cytoskeleton polarity	IDA Inferred from Direct Assay more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in microtubule anchoring	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in protein transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of Golgi organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of focal adhesion assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication fork arrest	IBA Inferred from Biological aspect of Ancestor more info
involved_in zonula adherens maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microtubule minus-end	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info
part_of replication fork protection complex	IBA Inferred from Biological aspect of Ancestor more info
located_in zonula adherens	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calmodulin-regulated spectrin-associated protein 3

Names: protein phosphatase 1, regulatory subunit 80

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080429.3 → NP_001073898.1 calmodulin-regulated spectrin-associated protein 3 isoform 1

See identical proteins and their annotated locations for NP_001073898.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008763, BC020431, BC035808, BC064490

Consensus CDS

CCDS45947.1

Related

ENSP00000416797.1, ENST00000446248.4

Conserved Domains (3) summary

pfam08683
Location:1137 → 1255

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:244 → 323

CAMSAP_CH; CAMSAP CH domain

pfam17095
Location:613 → 670

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
NM_020902.2 → NP_065953.1 calmodulin-regulated spectrin-associated protein 3 isoform 2

See identical proteins and their annotated locations for NP_065953.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC008763, BC020431, BC035808, BU733578

Consensus CDS

CCDS42489.1

UniProtKB/Swiss-Prot

Q8NDF1, Q9P1Y5

Related

ENSP00000160298.3, ENST00000160298.9

Conserved Domains (4) summary

PHA03247
Location:431 → 862

PHA03247; large tegument protein UL36; Provisional

pfam11971
Location:217 → 296

CAMSAP_CH; CAMSAP CH domain

pfam08683
Location:1110 → 1228

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam17095
Location:586 → 643

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin