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Aliases for CAMSAP3 Gene

Aliases for CAMSAP3 Gene

  • Calmodulin Regulated Spectrin Associated Protein Family Member 3 2 3 5
  • KIAA1543 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 80 2 3
  • Calmodulin Regulated Spectrin-Associated Protein Family, Member 3 2
  • Calmodulin-Regulated Spectrin-Associated Protein 3 3
  • 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. Among its related pathways are Stabilization and expansion of the E-cadherin adherens junction. 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 for CAMSAP3 Gene

  • Microtubule minus-end binding protein that acts as a regulator of non-centrosomal microtubule dynamics and organization. Specifically 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. May regulate the nucleation and the polymerization of microtubules. Indirectly, through the microtubule cytoskeleton, may regulate the organization of cellular organelles including the Golgi and the early endosomes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMSAP3 Gene

Genomics for CAMSAP3 Gene

Regulatory Elements for CAMSAP3 Gene

Enhancers for CAMSAP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F007595 0.9 ENCODE 13.1 +0.3 278 1.8 ARID4B DMAP1 GLIS2 SCRT2 THAP11 SP3 SP5 ZEB2 ZNF623 ZFP69B XAB2 ELAVL1 HNRNPM CAMSAP3 ZNF414 PCP2 MIR6792
GH19F007551 0.9 ENCODE 12.7 -44.3 -44343 1.1 ARNT TBL1XR1 CREB3L1 ZNF76 DEAF1 ZBTB40 ETS1 YY1 ZNF143 CREM CAMSAP3 ENSG00000269680 PNPLA6 GC19M007532
GH19F007187 1 Ensembl ENCODE 10 -407.1 -407082 2.0 CTCF SOX13 KLF1 WRNIP1 CEBPG ZBTB40 ZNF121 ZFHX2 EGR2 SOX5 ARHGEF18 PEX11G C19orf45 CAMSAP3 RETN GC19P007214 GC19P007151
GH19F007185 1 Ensembl ENCODE 10 -409.7 -409674 1.7 HDGF KLF1 PKNOX1 BMI1 YBX1 ZFHX2 ETV6 EGR2 MTA2 CBFB ARHGEF18 C19orf45 PEX11G CAMSAP3 INSR GC19P007214 GC19P007151
GH19F007424 0.9 ENCODE 10.6 -169.9 -169875 3.3 ELF3 ATF1 CREB3L1 SREBF2 RARA ZNF121 FOS CREM EGR2 SP3 ARHGEF18 C19orf45 PEX11G CAMSAP3 GC19P007434 ENSG00000267852
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAMSAP3 on UCSC Golden Path with GeneCards custom track

Promoters for CAMSAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001815761 199 1800 ARID4B DMAP1 GLIS2 SCRT2 THAP11 SP3 SP5 ZEB2 ZNF623 ZFP69B

Genomic Location for CAMSAP3 Gene

Chromosome:
19
Start:
7,595,902 bp from pter
End:
7,618,310 bp from pter
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. Interacts with CAMSAP2 (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:

Graphical View of Domain Structure for InterPro Entry

Q9P1Y5

UniProtKB/Swiss-Prot:

CAMP3_HUMAN :
  • The CKK domain binds microtubules.
  • Belongs to the CAMSAP1 family.
Domain:
  • The CKK domain binds microtubules.
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 CKK domain.
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:
Microtubule minus-end binding protein that acts as a regulator of non-centrosomal microtubule dynamics and organization. Specifically 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. May regulate the nucleation and the polymerization of microtubules. Indirectly, through the microtubule cytoskeleton, may regulate the organization of cellular organelles including the Golgi and the early endosomes.

Gene Ontology (GO) - Molecular Function for CAMSAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
GO:0008017 microtubule binding IEA --
GO:0030507 spectrin binding IEA --
GO:0051011 microtubule minus-end binding IDA 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:

Animal Model Products

miRNA for CAMSAP3 Gene

Inhibitory RNA Products

Flow Cytometry 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

Cell junction, adherens junction. Cytoplasm. Cytoplasm, cytoskeleton. Note=Scattered in the cytoplasm, associated with the minus-end of microtubules and also detected at the centrosomes. Localizes along zonula adherens only at mature cell-cell contacts.

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 5
plasma membrane 3
nucleus 2
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CAMSAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19041755
GO:0005813 colocalizes_with centrosome IDA 23169647
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005912 adherens junction 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:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0031175 neuron projection development IEA --
GO:0033043 regulation of organelle organization IMP 23169647
GO:0034453 microtubule anchoring IMP 19041755
genes like me logo Genes that share ontologies with CAMSAP3: view

No data available for SIGNOR curated interactions for CAMSAP3 Gene

Transcripts for CAMSAP3 Gene

Unigene Clusters for CAMSAP3 Gene

Calmodulin regulated spectrin-associated protein family, member 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for CAMSAP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CAMSAP3 Gene:

CAMSAP3

SOURCE GeneReport for Unigene cluster for CAMSAP3 Gene:

Hs.17686
genes like me logo Genes that share expression patterns with CAMSAP3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 95.07 (n)
cow
(Bos Taurus)
Mammalia CAMSAP3 34 35
  • 87.2 (n)
dog
(Canis familiaris)
Mammalia CAMSAP3 34 35
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Camsap3 34
  • 83.65 (n)
mouse
(Mus musculus)
Mammalia Camsap3 34 16 35
  • 82.82 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP3 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP3 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAMSAP3 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camsap3 34
  • 58.98 (n)
Str.313 34
zebrafish
(Danio rerio)
Actinopterygii camsap3 34
  • 55.59 (n)
SI:DKEY-209E8.1 35
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Patronin 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 35
  • 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)

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 from dbSNP and Humsavar for CAMSAP3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10401933 -- 7,609,948(+) cagct(C/T)acctg intron-variant
rs10402176 -- 7,610,093(+) gcggc(C/G)ggatc intron-variant
rs10535481 -- 7,598,776(+) AGAGA(-/GA)CTCTG intron-variant
rs10609863 -- 7,594,301(+) AATCA(-/ATCA)CACAT upstream-variant-2KB
rs10714598 -- 7,594,427(+) ACAAA(-/G)ACACT upstream-variant-2KB

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

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

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)

Relevant External Links 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

Relevant External Links for CAMSAP3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAMSAP3

No disorders were found for CAMSAP3 Gene.

No data available for MalaCards , 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 64
  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 Res. 2000) 2 3 4 64
  3. Nezha/CAMSAP3 and CAMSAP2 cooperate in epithelial-specific organization of noncentrosomal microtubules. (PMID: 23169647) Tanaka N. … Takeichi M. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64
  4. The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins. (PMID: 19508979) Baines A.J. … Phillips G.W. (Mol. Biol. Evol. 2009) 2 3 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for CAMSAP3 Gene

Sources for CAMSAP3 Gene

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