Aliases for CAMSAP3 Gene

Aliases for CAMSAP3 Gene

  • Calmodulin Regulated Spectrin Associated Protein Family Member 3 2 3 5
  • KIAA1543 2 3 4
  • Calmodulin-Regulated Spectrin-Associated Protein 3 3 4
  • Protein Phosphatase 1, Regulatory Subunit 80 2 3
  • Calmodulin Regulated Spectrin-Associated Protein Family, Member 3 2
  • Protein Nezha 4
  • PPP1R80 3
  • NEZHA 3

External Ids for CAMSAP3 Gene

Previous HGNC Symbols for CAMSAP3 Gene

  • KIAA1543

Previous GeneCards Identifiers for CAMSAP3 Gene

  • GC19P007661

Summaries for CAMSAP3 Gene

GeneCards Summary for CAMSAP3 Gene

CAMSAP3 (Calmodulin Regulated Spectrin Associated Protein Family Member 3) is a Protein Coding gene. Diseases associated with CAMSAP3 include Robinow Syndrome, Autosomal Dominant 3 and Cardiomyopathy, Dilated, 1E. Among its related pathways are Stabilization and expansion of the E-cadherin adherens junction. Gene Ontology (GO) annotations related to this gene include microtubule binding and microtubule minus-end binding. An important paralog of this gene is CAMSAP2.

UniProtKB/Swiss-Prot Summary for CAMSAP3 Gene

  • Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:27802168, PubMed:26715742). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391).

Additional gene information for CAMSAP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAMSAP3 Gene

Genomics for CAMSAP3 Gene

GeneHancer (GH) Regulatory Elements for CAMSAP3 Gene

Promoters and enhancers for CAMSAP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007595 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 513.3 +0.1 99 2.4 NRF1 NCOR1 ZIC2 ZBTB10 ZBTB26 CTBP1 ZBTB7A EZH2 PCBP1 KLF9 CAMSAP3 XAB2 ELAVL1 HNRNPM ZNF414 PCP2 RF00017-2786 L13712-013
GH19J007597 Promoter/Enhancer 0.7 Ensembl dbSUPER 500.7 +1.6 1599 0.2 EZH2 ZBTB20 CAMSAP3 RF00017-2786 L13712-013
GH19J007551 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 12.8 -44.6 -44559 1.5 TEAD4 SIX5 ZBTB11 AFF1 NR3C1 TOE1 CTBP1 HCFC1 DEAF1 MBD2 CAMSAP3 PNPLA6 piR-43164-033 lnc-PEX11G-3 L13712-013
GH19J007616 Enhancer 1.1 Ensembl ENCODE dbSUPER 13 +22.7 22736 4.5 ZNF300 POLR2G ZFX CLOCK ZNF662 MXI1 ZNF341 PCBP1 ZNF195 NFIC MIR6792 XAB2 ELAVL1 HNRNPM PET100 PCP2 CAMSAP3 ZNF414 CLEC4G MAP2K7
GH19J007554 Promoter/Enhancer 0.9 Ensembl ENCODE 12.8 -40.7 -40674 1.1 KLF9 KLF8 ZBTB7A ZBTB33 PCBP1 SP1 KLF1 ESRRA EGR2 POLR2A CAMSAP3 PNPLA6 piR-43164-033 lnc-PEX11G-3 L13712-013
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAMSAP3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAMSAP3

Genomic Locations for CAMSAP3 Gene

Genomic Locations for CAMSAP3 Gene
chr19:7,595,902-7,618,310
(GRCh38/hg38)
Size:
22,409 bases
Orientation:
Plus strand
chr19:7,660,788-7,683,196
(GRCh37/hg19)
Size:
22,409 bases
Orientation:
Plus strand

Genomic View for CAMSAP3 Gene

Genes around CAMSAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMSAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMSAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMSAP3 Gene

Proteins for CAMSAP3 Gene

  • Protein details for CAMSAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1Y5-CAMP3_HUMAN
    Recommended name:
    Calmodulin-regulated spectrin-associated protein 3
    Protein Accession:
    Q9P1Y5
    Secondary Accessions:
    • Q8NDF1

    Protein attributes for CAMSAP3 Gene

    Size:
    1249 amino acids
    Molecular mass:
    134750 Da
    Quaternary structure:
    • Interacts with PLEKHA7 (PubMed:19041755). Interacts with CAMSAP2 (By similarity). Interacts with KATNA1 and KATNB1; leading to regulate the length of CAMSAP3-decorated microtubule stretches (PubMed:24486153, PubMed:28386021). Interacts with AKAP9; regulating Golgi assembly in epithelial cells (PubMed:28089391). Interacts with MACF1 (PubMed:27693509, PubMed:27802168). Interacts with AKNA (By similarity).
    Miscellaneous:
    • 'Nezha' is a deity in Chinese mythology.

    Alternative splice isoforms for CAMSAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMSAP3 Gene

Post-translational modifications for CAMSAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAMSAP3 Gene

No data available for DME Specific Peptides for CAMSAP3 Gene

Domains & Families for CAMSAP3 Gene

Gene Families for CAMSAP3 Gene

Protein Domains for CAMSAP3 Gene

Suggested Antigen Peptide Sequences for CAMSAP3 Gene

GenScript: Design optimal peptide antigens:
  • KIAA1543 protein (A2VCM1_HUMAN)
  • Protein Nezha (CAMP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P1Y5

UniProtKB/Swiss-Prot:

CAMP3_HUMAN :
  • The CKK domain binds microtubules and specifically recognizes the minus-end of microtubules.
  • Belongs to the CAMSAP1 family.
Domain:
  • The CKK domain binds microtubules and specifically recognizes the minus-end of microtubules.
Family:
  • Belongs to the CAMSAP1 family.
genes like me logo Genes that share domains with CAMSAP3: view

Function for CAMSAP3 Gene

Molecular function for CAMSAP3 Gene

UniProtKB/Swiss-Prot Function:
Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:27802168, PubMed:26715742). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391).

Phenotypes From GWAS Catalog for CAMSAP3 Gene

Gene Ontology (GO) - Molecular Function for CAMSAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 24486153
GO:0005516 calmodulin binding IEA --
GO:0008017 microtubule binding IEA --
GO:0030507 spectrin binding IEA --
GO:0051011 microtubule minus-end binding IDA,IEA 19041755
genes like me logo Genes that share ontologies with CAMSAP3: view
genes like me logo Genes that share phenotypes with CAMSAP3: view

Animal Models for CAMSAP3 Gene

MGI Knock Outs for CAMSAP3:
  • Camsap3 Camsap3<tm1a(EUCOMM)Wtsi>

miRNA for CAMSAP3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAMSAP3 Gene

Localization for CAMSAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMSAP3 Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cytoplasm. Note=Scattered in the cytoplasm, associated with the minus-end of microtubules and also detected at the centrosomes (PubMed:19041755, PubMed:24486153, PubMed:27693509). Decorates the minus-end of microtubules by decreasing the rate of tubulin incorporation and remaining bound (PubMed:24486153). Localizes along zonula adherens only at mature cell-cell contacts (PubMed:19041755). In early embryos, accumulates at the microtubule bridges that connect pairs of cells: this structure is present in early embryos, which lack centrosomes (By similarity). This cytokinetic bridge does not undergo stereotypical abscission after cell division (By similarity). Accumulates to the pericentrosomal region following interaction with KATNA1 (PubMed:28386021). {ECO:0000250 UniProtKB:Q80VC9, ECO:0000269 PubMed:19041755, ECO:0000269 PubMed:24486153, ECO:0000269 PubMed:27693509, ECO:0000269 PubMed:28386021}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMSAP3 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 3
extracellular 1
endosome 1
golgi apparatus 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMSAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 19041755
GO:0005813 colocalizes_with centrosome IDA 23169647
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with CAMSAP3: view

Pathways & Interactions for CAMSAP3 Gene

genes like me logo Genes that share pathways with CAMSAP3: view

Pathways by source for CAMSAP3 Gene

Gene Ontology (GO) - Biological Process for CAMSAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 23169647
GO:0001701 in utero embryonic development IEA --
GO:0007026 negative regulation of microtubule depolymerization IBA 21873635
GO:0009792 embryo development ending in birth or egg hatching IEA,ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with CAMSAP3: view

No data available for SIGNOR curated interactions for CAMSAP3 Gene

Drugs & Compounds for CAMSAP3 Gene

No Compound Related Data Available

Transcripts for CAMSAP3 Gene

mRNA/cDNA for CAMSAP3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMSAP3 Gene

No ASD Table

Relevant External Links for CAMSAP3 Gene

GeneLoc Exon Structure for
CAMSAP3

Expression for CAMSAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAMSAP3 Gene

mRNA differential expression in normal tissues according to GTEx for CAMSAP3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.6) and Skin - Not Sun Exposed (Suprapubic) (x6.4).

Protein differential expression in normal tissues from HIPED for CAMSAP3 Gene

This gene is overexpressed in Fetal Brain (20.6), Frontal cortex (10.0), Pancreas (6.2), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAMSAP3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAMSAP3

SOURCE GeneReport for Unigene cluster for CAMSAP3 Gene:

Hs.17686

Evidence on tissue expression from TISSUES for CAMSAP3 Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with CAMSAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMSAP3 Gene

Orthologs for CAMSAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMSAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAMSAP3 31 30
  • 95.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAMSAP3 31 30
  • 87.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAMSAP3 31 30
  • 87.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Camsap3 30
  • 83.65 (n)
mouse
(Mus musculus)
Mammalia Camsap3 17 31 30
  • 82.82 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP3 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP3 31
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAMSAP3 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camsap3 30
  • 58.98 (n)
Str.313 30
zebrafish
(Danio rerio)
Actinopterygii camsap3 30
  • 55.59 (n)
SI:DKEY-209E8.1 31
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Patronin 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 31
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 31
  • 20 (a)
OneToMany
Species where no ortholog for CAMSAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAMSAP3 Gene

ENSEMBL:
Gene Tree for CAMSAP3 (if available)
TreeFam:
Gene Tree for CAMSAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAMSAP3: view image

Paralogs for CAMSAP3 Gene

Paralogs for CAMSAP3 Gene

genes like me logo Genes that share paralogs with CAMSAP3: view

Variants for CAMSAP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAMSAP3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710674 Benign: not provided 7,615,304(+) G/A MISSENSE_VARIANT
768958 Benign: not provided 7,610,597(+) C/T SYNONYMOUS_VARIANT
771924 Benign: not provided 7,608,221(+) C/T SYNONYMOUS_VARIANT
775470 Benign: not provided 7,608,179(+) G/A SYNONYMOUS_VARIANT
788013 Benign: not provided 7,611,536(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CAMSAP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CAMSAP3 Gene

Variant ID Type Subtype PubMed ID
dgv1703n106 CNV deletion 24896259
esv2656803 CNV deletion 23128226
esv2673205 CNV deletion 23128226
esv2751809 CNV gain 17911159
esv993190 CNV deletion 20482838
nsv1060887 CNV gain 25217958
nsv1072316 CNV deletion 25765185
nsv1072855 CNV deletion 25765185
nsv833730 CNV loss 17160897
nsv833731 CNV loss 17160897
nsv953958 CNV deletion 24416366

Variation tolerance for CAMSAP3 Gene

Residual Variation Intolerance Score: 4.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMSAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMSAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMSAP3 Gene

Disorders for CAMSAP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CAMSAP3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CAMSAP3

genes like me logo Genes that share disorders with CAMSAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAMSAP3 Gene

Publications for CAMSAP3 Gene

  1. Anchorage of microtubule minus ends to adherens junctions regulates epithelial cell-cell contacts. (PMID: 19041755) Meng W … Takeichi M (Cell 2008) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  3. CAMSAP3-dependent microtubule dynamics regulates Golgi assembly in epithelial cells. (PMID: 28089391) Wang J … Meng W (Journal of genetics and genomics = Yi chuan xue bao 2017) 3 4 54
  4. CAMSAP3 orients the apical-to-basal polarity of microtubule arrays in epithelial cells. (PMID: 26715742) Toya M … Takeichi M (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 54
  5. Control of apico-basal epithelial polarity by the microtubule minus-end-binding protein CAMSAP3 and spectraplakin ACF7. (PMID: 27802168) Noordstra I … Akhmanova A (Journal of cell science 2016) 3 4 54

Products for CAMSAP3 Gene

Sources for CAMSAP3 Gene