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Aliases for CAMSAP1 Gene

Aliases for CAMSAP1 Gene

  • Calmodulin Regulated Spectrin Associated Protein 1 2 3 5
  • Calmodulin Regulated Spectrin-Associated Protein 1 2

External Ids for CAMSAP1 Gene

Previous GeneCards Identifiers for CAMSAP1 Gene

  • GC09M134141
  • GC09M134139
  • GC09M135927
  • GC09M137841
  • GC09M138700
  • GC09M108162

Summaries for CAMSAP1 Gene

GeneCards Summary for CAMSAP1 Gene

CAMSAP1 (Calmodulin Regulated Spectrin Associated Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include microtubule binding and spectrin binding. An important paralog of this gene is CAMSAP2.

UniProtKB/Swiss-Prot for CAMSAP1 Gene

  • Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). 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, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850).

Additional gene information for CAMSAP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMSAP1 Gene

Genomics for CAMSAP1 Gene

GeneHancer (GH) Regulatory Elements for CAMSAP1 Gene

Promoters and enhancers for CAMSAP1 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
GH09I135904 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558 +0.4 423 5.2 ARID4B SIN3A DMAP1 IRF4 BRCA1 ZNF48 POLR2B GLIS2 FOS RUNX3 ENSG00000238058 CAMSAP1 GC09P135871
GH09I135883 Enhancer 0.7 ENCODE 13.3 +22.5 22491 1.7 FOXA2 KLF17 PYGO2 ZNF366 EGR1 PATZ1 ZNF600 ZNF639 RFX1 FOXA3 ENSG00000238058 CAMSAP1 UBAC1 GC09P135871
GH09I135926 Enhancer 1.3 FANTOM5 Ensembl ENCODE 4.6 -19.8 -19754 1.4 KLF1 MXI1 JUN MAX SIN3A EBF1 ZIC2 RAD21 RFX5 POLR2A UBAC1 CAMSAP1 CARD9 PIR47641
GH09I136323 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.2 -420.8 -420772 8.6 PKNOX1 ZNF133 SIN3A ZNF2 ETS1 GLIS2 ZNF548 FOS ATF7 SREBF1 GPSM1 DKFZP434A062 ANAPC2 INPP5E SNAPC4 SDCCAG3 SNHG7 QSOX2 MAN1B1 CYSRT1
GH09I135886 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +18.4 18351 5.6 HDGF CTCF PKNOX1 NFIB MAX EBF1 E2F1 ZFHX2 GATA3 POLR2A ENSG00000238058 KCNT1 CAMSAP1 GC09P135871
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAMSAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAMSAP1 gene promoter:

Genomic Locations for CAMSAP1 Gene

Genomic Locations for CAMSAP1 Gene
chr9:135,808,487-135,907,251
(GRCh38/hg38)
Size:
98,765 bases
Orientation:
Minus strand
chr9:138,700,333-138,799,074
(GRCh37/hg19)

Genomic View for CAMSAP1 Gene

Genes around CAMSAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMSAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMSAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMSAP1 Gene

Proteins for CAMSAP1 Gene

  • Protein details for CAMSAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5Y3-CAMP1_HUMAN
    Recommended name:
    Calmodulin-regulated spectrin-associated protein 1
    Protein Accession:
    Q5T5Y3
    Secondary Accessions:
    • A1L4L2
    • B2REB2
    • B2REB3
    • Q70W33
    • Q8NCY0
    • Q96E80
    • Q96FM3
    • Q9UFJ5

    Protein attributes for CAMSAP1 Gene

    Size:
    1602 amino acids
    Molecular mass:
    177972 Da
    Quaternary structure:
    • Interacts with spectrin via SPTBN1; the interaction is direct (PubMed:24117850). Interacts with calmodulin; calcium-dependent it prevents interaction with spectrin (PubMed:24117850).
    SequenceCaution:
    • Sequence=AAI30581.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMSAP1 Gene

    Alternative splice isoforms for CAMSAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMSAP1 Gene

Post-translational modifications for CAMSAP1 Gene

  • Ubiquitination at Lys49 and posLast=13411341

No data available for DME Specific Peptides for CAMSAP1 Gene

Domains & Families for CAMSAP1 Gene

Gene Families for CAMSAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAMSAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T5Y3

UniProtKB/Swiss-Prot:

CAMP1_HUMAN :
  • The CKK domain binds microtubules.
  • Belongs to the CAMSAP1 family.
Domain:
  • The CKK domain binds microtubules.
Family:
  • Belongs to the CAMSAP1 family.
genes like me logo Genes that share domains with CAMSAP1: view

Function for CAMSAP1 Gene

Molecular function for CAMSAP1 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:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). 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, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850).

Gene Ontology (GO) - Molecular Function for CAMSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding ISS --
GO:0008017 microtubule binding IDA 19508979
GO:0030507 spectrin binding IEA,IDA 24117850
GO:0051011 microtubule minus-end binding IDA 24486153
genes like me logo Genes that share ontologies with CAMSAP1: view

Phenotypes for CAMSAP1 Gene

genes like me logo Genes that share phenotypes with CAMSAP1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAMSAP1 Gene

Localization for CAMSAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMSAP1 Gene

Cytoplasm, cytoskeleton. Note=Associates with the minus-end of microtubules (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, does not form stretches of decorated microtubule minus-ends (PubMed:24486153, PubMed:24706919). {ECO:0000269 PubMed:19508979, ECO:0000269 PubMed:24486153, ECO:0000269 PubMed:24706919}.

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 CAMSAP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitotic spindle (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 19508979
GO:0036449 colocalizes_with microtubule minus-end IDA 24486153
genes like me logo Genes that share ontologies with CAMSAP1: view

Pathways & Interactions for CAMSAP1 Gene

SuperPathways for CAMSAP1 Gene

No Data Available

Interacting Proteins for CAMSAP1 Gene

Gene Ontology (GO) - Biological Process for CAMSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IDA 24486153
GO:0007010 cytoskeleton organization IMP 21834987
GO:0022604 regulation of cell morphogenesis IMP 21834987
GO:0031113 regulation of microtubule polymerization IDA 24486153
GO:0031175 neuron projection development IMP 19508979
genes like me logo Genes that share ontologies with CAMSAP1: view

No data available for Pathways by source and SIGNOR curated interactions for CAMSAP1 Gene

Drugs & Compounds for CAMSAP1 Gene

No Compound Related Data Available

Transcripts for CAMSAP1 Gene

Unigene Clusters for CAMSAP1 Gene

Calmodulin regulated spectrin-associated protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAMSAP1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for CAMSAP1 Gene

GeneLoc Exon Structure for
CAMSAP1
ECgene alternative splicing isoforms for
CAMSAP1

Expression for CAMSAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAMSAP1 Gene

Protein differential expression in normal tissues from HIPED for CAMSAP1 Gene

This gene is overexpressed in Retina (21.0), Heart (13.6), Frontal cortex (9.2), Peripheral blood mononuclear cells (8.7), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAMSAP1 Gene



Protein tissue co-expression partners for CAMSAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CAMSAP1 Gene:

CAMSAP1

SOURCE GeneReport for Unigene cluster for CAMSAP1 Gene:

Hs.522493

Evidence on tissue expression from TISSUES for CAMSAP1 Gene

  • Nervous system(4.8)
  • Eye(4.5)
  • Lung(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CAMSAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMSAP1 Gene

Orthologs for CAMSAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMSAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAMSAP1 33 34
  • 99.48 (n)
mouse
(Mus musculus)
Mammalia Camsap1 33 16 34
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Camsap1 33
  • 82.69 (n)
dog
(Canis familiaris)
Mammalia CAMSAP1 33 34
  • 82.22 (n)
cow
(Bos Taurus)
Mammalia CAMSAP1 33 34
  • 79.36 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP1 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMSAP1 33 34
  • 73.42 (n)
lizard
(Anolis carolinensis)
Reptilia CAMSAP1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488075 33
  • 68.52 (n)
Str.20205 33
zebrafish
(Danio rerio)
Actinopterygii camsap1b 33 34
  • 62.64 (n)
camsap1a 34
  • 52 (a)
OneToMany
Dr.26623 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3811 33
fruit fly
(Drosophila melanogaster)
Insecta Patronin 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 34
  • 28 (a)
OneToMany
Species where no ortholog for CAMSAP1 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)
  • 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)
  • 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 CAMSAP1 Gene

ENSEMBL:
Gene Tree for CAMSAP1 (if available)
TreeFam:
Gene Tree for CAMSAP1 (if available)

Paralogs for CAMSAP1 Gene

Paralogs for CAMSAP1 Gene

(2) SIMAP similar genes for CAMSAP1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CAMSAP1 Gene

genes like me logo Genes that share paralogs with CAMSAP1: view

Variants for CAMSAP1 Gene

Sequence variations from dbSNP and Humsavar for CAMSAP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000007141 -- 135,871,167(-) G/A intron_variant
rs1000011564 -- 135,846,673(-) C/A intron_variant
rs1000022899 -- 135,909,061(-) T/A upstream_transcript_variant
rs1000044527 -- 135,864,924(-) G/A intron_variant
rs1000056506 -- 135,870,550(-) T/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CAMSAP1 Gene

Variant ID Type Subtype PubMed ID
dgv12995n54 CNV loss 21841781
dgv12996n54 CNV gain 21841781
dgv12997n54 CNV gain 21841781
dgv12998n54 CNV gain+loss 21841781
dgv12999n54 CNV gain 21841781
dgv4168n106 CNV deletion 24896259
dgv7728n100 CNV gain 25217958
esv1005577 CNV loss 20482838
esv24094 CNV loss 19812545
esv25183 CNV loss 19812545
esv2739312 CNV deletion 23290073
esv2739313 CNV deletion 23290073
esv3334571 CNV duplication 20981092
esv3348138 CNV insertion 20981092
esv3390953 CNV insertion 20981092
nsv1075691 CNV deletion 25765185
nsv1076689 CNV duplication 25765185
nsv1125066 CNV duplication 24896259
nsv1148540 CNV duplication 26484159
nsv1151600 CNV insertion 26484159
nsv615928 CNV gain 21841781
nsv615930 CNV loss 21841781
nsv615936 CNV gain+loss 21841781
nsv615941 CNV loss 21841781
nsv825173 CNV gain 20364138
nsv831756 CNV loss 17160897
nsv831757 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for CAMSAP1 Gene

Residual Variation Intolerance Score: 2.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMSAP1 Gene

Human Gene Mutation Database (HGMD)
CAMSAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMSAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMSAP1 Gene

Disorders for CAMSAP1 Gene

Additional Disease Information for CAMSAP1

No disorders were found for CAMSAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CAMSAP1 Gene

Publications for CAMSAP1 Gene

  1. The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins. (PMID: 19508979) Baines AJ … Phillips GW (Molecular biology and evolution 2009) 3 4 22 58
  2. Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin. (PMID: 24706919) Hendershott MC … Vale RD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  3. Microtubule minus-end stabilization by polymerization-driven CAMSAP deposition. (PMID: 24486153) Jiang K … Akhmanova A (Developmental cell 2014) 3 4 58
  4. A conserved sequence in calmodulin regulated spectrin-associated protein 1 links its interaction with spectrin and calmodulin to neurite outgrowth. (PMID: 24117850) King MD … Baines AJ (Journal of neurochemistry 2014) 3 4 58
  5. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 58

Products for CAMSAP1 Gene

Sources for CAMSAP1 Gene

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