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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. 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

  • Probable microtubule-binding protein that plays a role in the regulation of cell morphology and cytoskeletal organization. Through interaction with spectrin may regulate neurite outgrowth.

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

Regulatory Elements for CAMSAP1 Gene

Enhancers for CAMSAP1 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
GH09G135904 1.6 FANTOM5 ENCODE dbSUPER 7.9 +0.4 423 5.2 CREB3L1 AGO1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 GLIS2 GATA2 FOS ENSG00000238058 CAMSAP1 GC09P135871
GH09G135883 0.7 ENCODE 13.3 +22.5 22491 1.7 FOXA2 KLF17 ZNF366 EGR1 PATZ1 ZNF600 NFE2L2 ZNF639 ZNF263 RFX1 ENSG00000238058 CAMSAP1 UBAC1 GC09P135871
GH09G135926 1.5 FANTOM5 Ensembl ENCODE 4.6 -19.8 -19755 1.4 HDAC1 SIN3A RAD21 RFX5 FOS DEK ZHX1 USF2 SMARCB1 MAFF UBAC1 CAMSAP1 CARD9 PIR47641
GH09G135886 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +18.4 18351 5.6 HDGF CTCF PKNOX1 ESRRA NFIB MAX RAD21 E2F1 ZFHX2 POLR2A ENSG00000238058 KCNT1 CAMSAP1 GC09P135871
GH09G136323 1.6 FANTOM5 ENCODE dbSUPER 1.2 -420.8 -420772 8.6 PKNOX1 CREB3L1 ZNF133 SIN3A ZNF2 ETS1 GLIS2 FOS ZNF548 ZNF263 SNHG7 ANAPC2 GPSM1 SNAPC4 CYSRT1 LHX3 CAMSAP1 DNLZ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAMSAP1 on UCSC Golden Path with GeneCards custom track

Promoters for CAMSAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242930 51 2401 AGO1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 KDM4B DEK SP3 MXD4

Genomic Location for CAMSAP1 Gene

Chromosome:
9
Start:
135,808,487 bp from pter
End:
135,907,251 bp from pter
Size:
98,765 bases
Orientation:
Minus strand

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. Interacts with calmodulin; calcium-dependent it prevents interaction with spectrin.
    SequenceCaution:
    • Sequence=AAI30581.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CAMSAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMSAP1 Gene

Post-translational modifications for CAMSAP1 Gene

  • Ubiquitination at posLast=4949 and posLast=13411341
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CAMSAP1 Gene

Domains & Families for CAMSAP1 Gene

Protein Domains for CAMSAP1 Gene

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

No data available for Gene Families for CAMSAP1 Gene

Function for CAMSAP1 Gene

Molecular function for CAMSAP1 Gene

UniProtKB/Swiss-Prot Function:
Probable microtubule-binding protein that plays a role in the regulation of cell morphology and cytoskeletal organization. Through interaction with spectrin may regulate neurite outgrowth.

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 IDA 24117850
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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 microtubules.

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

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
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:0007010 cytoskeleton organization IMP 21834987
GO:0022604 regulation of cell morphogenesis IMP 21834987
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

Transcripts for CAMSAP1 Gene

Unigene Clusters for CAMSAP1 Gene

Calmodulin regulated spectrin-associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Primer Products

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 34 35
  • 99.48 (n)
mouse
(Mus musculus)
Mammalia Camsap1 34 16 35
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Camsap1 34
  • 82.69 (n)
dog
(Canis familiaris)
Mammalia CAMSAP1 34 35
  • 82.22 (n)
cow
(Bos Taurus)
Mammalia CAMSAP1 34 35
  • 79.36 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMSAP1 34 35
  • 73.42 (n)
lizard
(Anolis carolinensis)
Reptilia CAMSAP1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488075 34
  • 68.52 (n)
Str.20205 34
zebrafish
(Danio rerio)
Actinopterygii camsap1b 34 35
  • 62.64 (n)
camsap1a 35
  • 52 (a)
OneToMany
Dr.26623 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3811 34
fruit fly
(Drosophila melanogaster)
Insecta Patronin 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 35
  • 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 Sequence Context AA Info Type
rs1000007141 -- 135,871,167(+) AAATT(A/G)TAAAA intron-variant
rs1000011564 -- 135,846,673(+) TAAAA(A/C)AAATT intron-variant
rs1000022899 -- 135,909,061(+) GGTCA(A/T)TCTGA intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000044527 -- 135,864,924(+) TACCT(A/G)GACCA intron-variant
rs1000056506 -- 135,870,550(+) GCACT(C/G/T)TGGGA 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)

Relevant External Links for CAMSAP1 Gene

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

Relevant External Links for CAMSAP1

Genetic Association Database (GAD)
CAMSAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.J. … Phillips G.W. (Mol. Biol. Evol. 2009) 3 4 22 64
  2. A conserved sequence in CAMSAP1 (calmodulin regulated spectrin- associated protein 1) links its interaction with spectrin and calmodulin to neurite outgrowth. (PMID: 24117850) King M.D. … Baines A.J. (J. Neurochem. 2014) 3 4 64
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64

Products for CAMSAP1 Gene

Sources for CAMSAP1 Gene

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