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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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CAMSAP1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CAMSAP1 Gene at MOPED

Post-translational modifications for CAMSAP1 Gene

  • Ubiquitination at Lys 49 and Lys 1341
  • Modification sites at PhosphoSitePlus

Other Protein References for CAMSAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.
  • 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 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: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

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
Jensen Localization Image for CAMSAP1 Gene COMPARTMENTS Subcellular localization image for CAMSAP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for CAMSAP1 Gene

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: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 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, MOPED, and MaxQB for CAMSAP1 Gene



SOURCE GeneReport for Unigene cluster for CAMSAP1 Gene Hs.522493

genes like me logo Genes that share expression patterns with CAMSAP1: view

Protein tissue co-expression partners for CAMSAP1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CAMSAP1 35
  • 79.36 (n)
  • 81.53 (a)
CAMSAP1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAMSAP1 35
  • 82.22 (n)
  • 84.98 (a)
CAMSAP1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Camsap1 35
  • 82.85 (n)
  • 86.5 (a)
Camsap1 16
Camsap1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAMSAP1 35
  • 99.48 (n)
  • 99.5 (a)
CAMSAP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Camsap1 35
  • 82.69 (n)
  • 87.4 (a)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMSAP1 35
  • 73.42 (n)
  • 78.56 (a)
CAMSAP1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAMSAP1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488075 35
  • 68.52 (n)
  • 68.89 (a)
Str.20205 35
zebrafish
(Danio rerio)
Actinopterygii camsap1b 35
  • 62.64 (n)
  • 61.79 (a)
Dr.26623 35
camsap1a 36
  • 52 (a)
OneToMany
camsap1b 36
  • 56 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3811 35
fruit fly
(Drosophila melanogaster)
Insecta Patronin 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 36
  • 28 (a)
OneToMany
Species with no ortholog for CAMSAP1:
  • 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
rs35639321 - 135,823,234(+) GTAGA(A/G)CAAAA reference, missense
rs730399 -- 135,816,321(-) TGCCC(C/T)GTGCT intron-variant
rs877831 -- 135,906,649(+) CCTCA(G/T)ACGGC intron-variant
rs913342 -- 135,815,881(-) ACGGC(C/G)TTCGC intron-variant
rs949675 -- 135,891,784(-) ACTTA(C/T)AATAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831756 CNV Loss 17160897
nsv894274 CNV Loss 21882294
nsv894276 CNV Loss 21882294
esv1005577 CNV Loss 20482838
esv25183 CNV Loss 19812545
esv2739312 CNV Deletion 23290073
esv2739313 CNV Deletion 23290073
nsv831757 CNV Loss 17160897
dgv8372n71 CNV Loss 21882294
nsv825173 CNV Gain 20364138
nsv894278 CNV Loss 21882294
dgv8373n71 CNV Loss 21882294
esv24094 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
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 23 67
  2. 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
  3. 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
  4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for CAMSAP1 Gene

Sources for CAMSAP1 Gene

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