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Aliases for CAMTA1 Gene

Aliases for CAMTA1 Gene

  • Calmodulin Binding Transcription Activator 1 2 3
  • KIAA0833 4 6
  • CANPMR 3 6
  • Calmodulin-Binding Transcription Activator 1 3

External Ids for CAMTA1 Gene

Previous GeneCards Identifiers for CAMTA1 Gene

  • GC01P006422
  • GC01P006654
  • GC01P006554
  • GC01P006779
  • GC01P005994

Summaries for CAMTA1 Gene

GeneCards Summary for CAMTA1 Gene

CAMTA1 (Calmodulin Binding Transcription Activator 1) is a Protein Coding gene. Diseases associated with CAMTA1 include cerebellar ataxia, nonprogressive, with mental retardation and histiocytoid hemangioma. An important paralog of this gene is CAMTA2.

UniProtKB/Swiss-Prot for CAMTA1 Gene

  • Transcriptional activator. May act as a tumor suppressor.

Gene Wiki entry for CAMTA1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMTA1 Gene

Genomics for CAMTA1 Gene

Regulatory Elements for CAMTA1 Gene

Genomic Location for CAMTA1 Gene

Start:
6,785,324 bp from pter
End:
7,769,706 bp from pter
Size:
984,383 bases
Orientation:
Plus strand

Genomic View for CAMTA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CAMTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMTA1 Gene

Proteins for CAMTA1 Gene

  • Protein details for CAMTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Y1-CMTA1_HUMAN
    Recommended name:
    Calmodulin-binding transcription activator 1
    Protein Accession:
    Q9Y6Y1
    Secondary Accessions:
    • A7MBM4
    • G3V3Z7
    • Q5VUE1
    • Q6V701
    • Q8WYI3
    • Q96S92

    Protein attributes for CAMTA1 Gene

    Size:
    1673 amino acids
    Molecular mass:
    183672 Da
    Quaternary structure:
    • May interact with calmodulin.
    Miscellaneous:
    • A very small segment of 1p36 located within CAMTA1 is deleted in all oligodendroglial tumors with 1p LOH. This minimal deleted region (MDR) also overlaps the neuroblastoma 1p36 MDR. CAMTA1 shows no evidence of inactivation by somatic mutations
    SequenceCaution:
    • Sequence=AAL39006.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA74856.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW71580.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMTA1 Gene

    Alternative splice isoforms for CAMTA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMTA1 Gene

Proteomics data for CAMTA1 Gene at MOPED

Post-translational modifications for CAMTA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAMTA1 Gene

Domains for CAMTA1 Gene

Suggested Antigen Peptide Sequences for CAMTA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6Y1

UniProtKB/Swiss-Prot:

CMTA1_HUMAN :
  • Q9Y6Y1
Domain:
  • Contains 1 CG-1 DNA-binding domain.
  • Contains 1 IPT/TIG domain.
  • Contains 3 IQ domains.
Family:
  • Belongs to the CAMTA family.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with CAMTA1: view

No data available for Gene Families for CAMTA1 Gene

Function for CAMTA1 Gene

Molecular function for CAMTA1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator. May act as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
Detected at low levels at interphase and in resting cells. Up-regulated during S phase and mitosis. Levels decrease at the end of mitosis.

Gene Ontology (GO) - Molecular Function for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CAMTA1: view

Phenotypes for CAMTA1 Gene

GenomeRNAi human phenotypes for CAMTA1:
genes like me logo Genes that share phenotypes with CAMTA1: view

Animal Model Products

miRNA for CAMTA1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CAMTA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CAMTA1 Gene

Localization for CAMTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMTA1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAMTA1 Gene COMPARTMENTS Subcellular localization image for CAMTA1 gene
Compartment Confidence
nucleus 4
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CAMTA1: view

Pathways for CAMTA1 Gene

SuperPathways for CAMTA1 Gene

No Data Available

Interacting Proteins for CAMTA1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000306522%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000306522 Q9Y6Y1-CMTA1_HUMAN for CAMTA1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CAMTA1: view

No data available for Pathways by source for CAMTA1 Gene

Transcripts for CAMTA1 Gene

Unigene Clusters for CAMTA1 Gene

Calmodulin binding transcription activator 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CAMTA1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMTA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1: - - - - - - - - - - - -
SP2:
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9: -
SP10:

ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CAMTA1 Gene

GeneLoc Exon Structure for
CAMTA1
ECgene alternative splicing isoforms for
CAMTA1

Expression for CAMTA1 Gene

mRNA expression in normal human tissues for CAMTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CAMTA1 Gene

This gene is overexpressed in CD8 Tcells (36.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CAMTA1 Gene

SOURCE GeneReport for Unigene cluster for CAMTA1 Gene Hs.397705

mRNA Expression by UniProt/SwissProt for CAMTA1 Gene

Q9Y6Y1-CMTA1_HUMAN
Tissue specificity: Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, and are reduced by half in oligodendroglioma and astrocytoma cases with 1p loss of heterozygosity. Detected in neuroblastic-type cultured neuroblastoma cells. Expressed in heart and kidney.
genes like me logo Genes that share expressions with CAMTA1: view

Expression partners for CAMTA1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CAMTA1 Gene

Orthologs for CAMTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMTA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CAMTA1 35
  • 91.13 (n)
  • 94.22 (a)
CAMTA1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAMTA1 35
  • 92.75 (n)
  • 95.78 (a)
CAMTA1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Camta1 35
  • 90.18 (n)
  • 94.14 (a)
Camta1 16
Camta1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAMTA1 35
  • 94.67 (n)
  • 93.95 (a)
CAMTA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Camta1 35
  • 89 (n)
  • 93.6 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CAMTA1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMTA1 35
  • 79.64 (n)
  • 86.25 (a)
CAMTA1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAMTA1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camta1 35
  • 74.09 (n)
  • 82.34 (a)
zebrafish
(Danio rerio)
Actinopterygii camta1a 35
  • 68.4 (n)
  • 71.47 (a)
camta1a 36
  • 60 (a)
OneToMany
CR847998.1 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Camta 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea camt-1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for CAMTA1:
  • 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)
  • 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 CAMTA1 Gene

ENSEMBL:
Gene Tree for CAMTA1 (if available)
TreeFam:
Gene Tree for CAMTA1 (if available)

Paralogs for CAMTA1 Gene

Paralogs for CAMTA1 Gene

Selected SIMAP similar genes for CAMTA1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for CAMTA1 Gene

genes like me logo Genes that share paralogs with CAMTA1: view

Variants for CAMTA1 Gene

Sequence variations from dbSNP and Humsavar for CAMTA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs8918 -- 6,888,144(-) CACTG(A/G)AGATA utr-variant-3-prime, intron-variant, nc-transcript-variant
rs175823 -- 6,786,492(+) CTCTC(C/T)GTTGA intron-variant
rs190689 -- 6,788,818(-) AAAAA(A/G)GGCCC intron-variant
rs588647 -- 6,810,739(+) gcgga(C/G)cttgc intron-variant
rs589178 -- 6,810,882(-) TCACC(A/G)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAMTA1 Gene

Variant ID Type Subtype PubMed ID
nsv871348 CNV Gain 21882294
esv1979443 CNV Deletion 18987734
esv2740139 CNV Deletion 23290073
esv1086035 CNV Deletion 17803354
esv999225 CNV Deletion 20482838
esv25521 CNV Loss 19812545
nsv871178 CNV Loss 21882294
esv2740250 CNV Deletion 23290073
esv2556451 CNV Insertion 19546169
nsv512714 CNV Insertion 21212237
esv1590628 CNV Insertion 17803354
esv28688 CNV Loss 19812545
esv2482000 CNV Insertion 19546169
esv988826 CNV Insertion 20482838
nsv519205 CNV Loss 19592680
esv990496 CNV Deletion 20482838
esv2740361 CNV Deletion 23290073
esv2740472 CNV Deletion 23290073
esv2662615 CNV Deletion 23128226
esv2444029 CNV Deletion 19546169
esv2740584 CNV Deletion 23290073
esv2740695 CNV Deletion 23290073
esv1124399 CNV Deletion 17803354
esv2740806 CNV Deletion 23290073
esv2740917 CNV Deletion 23290073
esv2741028 CNV Deletion 23290073
esv2741139 CNV Deletion 23290073
nsv462394 CNV Loss 19166990
nsv871273 CNV Gain 21882294
esv275496 CNV Loss 21479260
nsv1410 CNV Insertion 18451855
nsv871464 CNV Loss 21882294
esv2666029 CNV Deletion 23128226
nsv527338 CNV Loss 19592680
esv274189 CNV Insertion 20981092
esv269095 CNV Insertion 20981092
nsv831758 CNV Gain+Loss 17160897
nsv871310 CNV Loss 21882294
nsv871370 CNV Gain 21882294
nsv522589 CNV Loss 19592680
nsv518903 CNV Loss 19592680
nsv870872 CNV Loss 21882294
esv2741250 CNV Deletion 23290073
esv2741361 CNV Deletion 23290073
nsv526782 CNV Loss 19592680
esv2661964 CNV Deletion 23128226
esv2647714 CNV Deletion 19546169
esv1935214 CNV Deletion 18987734
nsv527595 CNV Loss 19592680
esv2741472 CNV Deletion 23290073
esv2741695 CNV Deletion 23290073
dgv13e201 CNV Deletion 23290073
esv2741917 CNV Deletion 23290073
esv2661908 CNV Deletion 23128226
nsv826364 CNV Gain 20364138
nsv7991 CNV Gain 18304495
esv28432 CNV Gain+Loss 19812545
nsv820592 CNV Deletion 20802225
nsv826475 CNV Loss 20364138
esv2592830 CNV Deletion 19546169
nsv819302 CNV Loss 19587683
esv2190574 CNV Deletion 18987734
esv3915 CNV Deletion 18987735
esv2742028 CNV Deletion 23290073
esv2657512 CNV Deletion 23128226
esv7233 CNV Loss 19470904
dgv10n67 CNV Gain 20364138
nsv826808 CNV Gain 20364138
dgv15e1 CNV Complex 17122850
esv23816 CNV Loss 19812545
nsv512715 CNV Insertion 21212237
nsv870745 CNV Loss 21882294
esv2742139 CNV Deletion 23290073
esv2742250 CNV Deletion 23290073
esv2742361 CNV Deletion 23290073
esv2742472 CNV Deletion 23290073
esv2742583 CNV Deletion 23290073
esv2659209 CNV Deletion 23128226
esv993163 CNV Deletion 20482838
esv2742694 CNV Deletion 23290073
esv1611358 CNV Deletion 17803354
esv2742806 CNV Deletion 23290073
nsv520077 CNV Loss 19592680
esv2672475 CNV Deletion 23128226
nsv871278 CNV Loss 21882294
esv1977744 CNV Deletion 18987734
esv8105 CNV Loss 19470904
nsv871889 CNV Loss 21882294
esv28595 CNV Gain 19812545
esv2671025 CNV Deletion 23128226

Relevant External Links for CAMTA1 Gene

HapMap Linkage Disequilibrium report
CAMTA1
Human Gene Mutation Database (HGMD)
CAMTA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMTA1 Gene

Disorders for CAMTA1 Gene

(1) OMIM Diseases for CAMTA1 Gene (611501)

UniProtKB/Swiss-Prot

CMTA1_HUMAN
  • Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:614756]: A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. {ECO:0000269 PubMed:22693284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CAMTA1 Gene

(1) Novoseek inferred disease relationships for CAMTA1 Gene

Disease -log(P) Hits PubMed IDs
tumors 4.65 4

Relevant External Links for CAMTA1

Genetic Association Database (GAD)
CAMTA1
Human Genome Epidemiology (HuGE) Navigator
CAMTA1
genes like me logo Genes that share disorders with CAMTA1: view

No data available for Genatlas for CAMTA1 Gene

Publications for CAMTA1 Gene

  1. Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells. (PMID: 15138581) Nakatani K. … Nobori T. (Int. J. Oncol. 2004) 3 4 23
  2. Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. (PMID: 17222547) Henrich K.-O. … Westermann F. (Eur. J. Cancer 2007) 3 4 23
  3. Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. (PMID: 17470457) Huentelman M.J. … Stephan D.A. (Hum. Mol. Genet. 2007) 3 23 48
  4. A novel family of calmodulin-binding transcription activators in multicellular organisms. (PMID: 11925432) Bouche N. … Fromm H. (J. Biol. Chem. 2002) 2 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4

Products for CAMTA1 Gene

Sources for CAMTA1 Gene

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