The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 o... See more...

Aliases for CAMTA1 Gene

Aliases for CAMTA1 Gene

  • Calmodulin Binding Transcription Activator 1 2 3 5
  • Calmodulin-Binding Transcription Activator 1 3 4
  • KIAA0833 4
  • CANPMR 3

External Ids for CAMTA1 Gene

Previous GeneCards Identifiers for CAMTA1 Gene

  • GC01P006422
  • GC01P006654
  • GC01P006554
  • GC01P006779
  • GC01P005994

Summaries for CAMTA1 Gene

Entrez Gene Summary for CAMTA1 Gene

  • The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]

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 Epithelioid Hemangioendothelioma. An important paralog of this gene is CAMTA2.

UniProtKB/Swiss-Prot Summary for CAMTA1 Gene

Gene Wiki entry for CAMTA1 Gene

Additional gene information for CAMTA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAMTA1 Gene

Genomics for CAMTA1 Gene

GeneHancer (GH) Regulatory Elements for CAMTA1 Gene

Promoters and enhancers for CAMTA1 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
GH01J006783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -123 4 ZBTB40 EP300 SIN3A NRF1 USF1 POLR2G SP1 GTF2E2 JUND PHF8 CAMTA1 CAMTA1-DT NONHSAG000256.2 THAP3 PHF13 ZBTB48 lnc-CAMTA1-3
GH01J006404 Enhancer 1.1 Ensembl ENCODE 19.4 -380.5 -380464 0.5 CTCF RBAK ZNF639 ZNF10 ZNF354C ZNF623 ZNF510 REST KLF7 MYC THAP3 NOL9 RPL22 CAMTA1-DT PHF13 LOC102724450 CAMTA1 ZBTB48 NPHP4 ESPN
GH01J006819 Enhancer 1 Ensembl ENCODE 13 +37.5 37548 7.1 ZBTB40 ZSCAN5C TRIM22 ZNF341 FOXA2 RBM25 OSR2 BCL11A RELA TCF12 CAMTA1 CAMTA1-DT ENSG00000237365 THAP3 RPL37P9 piR-45035-001 NONHSAG000256.2
GH01J006412 Promoter/Enhancer 1.2 Ensembl ENCODE 10.8 -370.3 -370326 4.3 CTCF MYC USF1 SP1 ZIC2 ZNF423 TRIM22 TEAD1 SMC3 MXI1 RF00017-020 lnc-ACOT7-3 ESPN RNF207 HES3 ICMT LINC00337 PLEKHG5 LOC102724450 RPL22
GH01J007678 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas 9.4 +894.6 894624 2.8 HNRNPK NRF1 POLR2G NCOR1 PHF8 KDM6A ZNF623 ZBTB26 TGIF2 ZBTB7A ENSG00000270171 VAMP3 PER3 CAMTA1 FJ601684-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAMTA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAMTA1

Top Transcription factor binding sites by QIAGEN in the CAMTA1 gene promoter:
  • CBF(2)
  • CUTL1
  • GATA-1
  • NF-Y
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)

Genomic Locations for CAMTA1 Gene

Genomic Locations for CAMTA1 Gene
chr1:6,785,324-7,769,706
(GRCh38/hg38)
Size:
984,383 bases
Orientation:
Plus strand
chr1:6,845,384-7,829,766
(GRCh37/hg19)
Size:
984,383 bases
Orientation:
Plus strand

Genomic View for CAMTA1 Gene

Genes around CAMTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA74856.3; Type=Erroneous initiation; Note=Extended N-terminus.; 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

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 & Families for CAMTA1 Gene

Gene Families for CAMTA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CAMTA1 Gene

Suggested Antigen Peptide Sequences for CAMTA1 Gene

GenScript: Design optimal peptide antigens:
  • Calmodulin-binding transcription activator 1 (CMTA1_HUMAN)
  • CAMTA1 protein (Q7Z7P1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6Y1

UniProtKB/Swiss-Prot:

CMTA1_HUMAN :
  • Belongs to the CAMTA family.
Family:
  • Belongs to the CAMTA family.
genes like me logo Genes that share domains with CAMTA1: view

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.

Phenotypes From GWAS Catalog for CAMTA1 Gene

Gene Ontology (GO) - Molecular Function for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA --
GO:0043565 sequence-specific DNA binding IBA 21873635
genes like me logo Genes that share ontologies with CAMTA1: view
genes like me logo Genes that share phenotypes with CAMTA1: view

Human Phenotype Ontology for CAMTA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMTA1 Gene

MGI Knock Outs for CAMTA1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 CAMTA1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CAMTA1: view

Pathways & Interactions for CAMTA1 Gene

PathCards logo

SuperPathways for CAMTA1 Gene

No Data Available

Interacting Proteins for CAMTA1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000306522 Q9Y6Y1-CMTA1_HUMAN for CAMTA1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0035307 positive regulation of protein dephosphorylation IMP 23853098
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
GO:0050885 neuromuscular process controlling balance IEA --
GO:0070886 positive regulation of calcineurin-NFAT signaling cascade IMP 23853098
genes like me logo Genes that share ontologies with CAMTA1: view

No data available for Pathways by source and SIGNOR curated interactions for CAMTA1 Gene

Drugs & Compounds for CAMTA1 Gene

No Compound Related Data Available

Transcripts for CAMTA1 Gene

mRNA/cDNA for CAMTA1 Gene

23 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for CAMTA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAMTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAMTA1 Gene

This gene is overexpressed in CD8 Tcells (36.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAMTA1 Gene



Protein tissue co-expression partners for CAMTA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAMTA1

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.

Evidence on tissue expression from TISSUES for CAMTA1 Gene

  • Nervous system(4.9)
  • Heart(4.5)
  • Skin(4.3)
  • Lung(3)
  • Liver(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMTA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with CAMTA1: view

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
chimpanzee
(Pan troglodytes)
Mammalia CAMTA1 31 30
  • 94.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAMTA1 31 30
  • 92.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CAMTA1 31 30
  • 91.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Camta1 17 31 30
  • 90.18 (n)
rat
(Rattus norvegicus)
Mammalia Camta1 30
  • 89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAMTA1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMTA1 31 30
  • 79.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAMTA1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camta1 30
  • 74.09 (n)
zebrafish
(Danio rerio)
Actinopterygii camta1a 31 30
  • 68.4 (n)
OneToMany
CR847998.1 31
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Camta 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea camt-1 31
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToMany
Species where no ortholog for CAMTA1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CAMTA1: view image

Paralogs for CAMTA1 Gene

Paralogs for CAMTA1 Gene

(1) SIMAP similar genes for CAMTA1 Gene using alignment to 8 proteins:

  • CMTA1_HUMAN
  • G3V297_HUMAN
  • H0YJG5_HUMAN
  • H0YJK7_HUMAN
  • H0YJR7_HUMAN
  • H0YJV1_HUMAN
  • H0YJY7_HUMAN
  • Q7Z7P1_HUMAN

Pseudogenes.org Pseudogenes for CAMTA1 Gene

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

Variants for CAMTA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAMTA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
599309 Pathogenic: Cerebellar ataxia, nonprogressive, with mental retardation 7,621,940(+) CGTCTTCTCTGGGTGA INTRON_VARIANT
658467 Pathogenic: not provided 7,744,861(+) CA/C FRAMESHIFT_VARIANT
690391 Uncertain Significance: Cerebellar ataxia, nonprogressive, with mental retardation 7,737,268(+) C/T MISSENSE_VARIANT
rs1057523792 Likely Pathogenic: not provided 7,752,496(+) C/T NONSENSE
rs1057524631 Uncertain Significance: not provided 7,663,440(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CAMTA1 Gene

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

Variant ID Type Subtype PubMed ID
dgv10e212 CNV loss 25503493
dgv10n67 CNV gain 20364138
dgv30n106 CNV deletion 24896259
dgv31n106 CNV deletion 24896259
dgv33e59 CNV duplication 20981092
dgv34e59 CNV duplication 20981092
dgv35e59 CNV duplication 20981092
dgv36e59 CNV duplication 20981092
dgv3e201 CNV deletion 23290073
dgv81n54 CNV gain 21841781
dgv82n54 CNV loss 21841781
dgv83n54 CNV loss 21841781
dgv84n54 CNV gain 21841781
dgv85n54 CNV gain+loss 21841781
dgv86n54 CNV loss 21841781
dgv87n54 CNV gain 21841781
dgv88n54 CNV loss 21841781
dgv89n54 CNV loss 21841781
dgv90n54 CNV loss 21841781
dgv91n54 CNV loss 21841781
dgv92n54 CNV loss 21841781
dgv93n54 CNV loss 21841781
dgv94n54 CNV loss 21841781
esv1086035 CNV deletion 17803354
esv1124399 CNV deletion 17803354
esv1590628 CNV insertion 17803354
esv1611358 CNV deletion 17803354
esv1935214 CNV deletion 18987734
esv1977744 CNV deletion 18987734
esv1979443 CNV deletion 18987734
esv2190574 CNV deletion 18987734
esv23816 CNV loss 19812545
esv2444029 CNV deletion 19546169
esv2482000 CNV insertion 19546169
esv25521 CNV loss 19812545
esv2556451 CNV insertion 19546169
esv2592830 CNV deletion 19546169
esv2647714 CNV deletion 19546169
esv2657512 CNV deletion 23128226
esv2659209 CNV deletion 23128226
esv2661908 CNV deletion 23128226
esv2661964 CNV deletion 23128226
esv2662615 CNV deletion 23128226
esv2666029 CNV deletion 23128226
esv2671025 CNV deletion 23128226
esv2672475 CNV deletion 23128226
esv2740139 CNV deletion 23290073
esv2740250 CNV deletion 23290073
esv2740361 CNV deletion 23290073
esv2740472 CNV deletion 23290073
esv2740584 CNV deletion 23290073
esv2740695 CNV deletion 23290073
esv2740806 CNV deletion 23290073
esv2740917 CNV deletion 23290073
esv2741028 CNV deletion 23290073
esv2741139 CNV deletion 23290073
esv2741250 CNV deletion 23290073
esv2741361 CNV deletion 23290073
esv2741472 CNV deletion 23290073
esv2741695 CNV deletion 23290073
esv2741917 CNV deletion 23290073
esv2742028 CNV deletion 23290073
esv2742139 CNV deletion 23290073
esv2742250 CNV deletion 23290073
esv2742361 CNV deletion 23290073
esv2742472 CNV deletion 23290073
esv2742583 CNV deletion 23290073
esv2742694 CNV deletion 23290073
esv2742806 CNV deletion 23290073
esv275496 CNV loss 21479260
esv2758918 CNV gain 17122850
esv2764250 CNV loss 21179565
esv28432 CNV gain+loss 19812545
esv28595 CNV gain 19812545
esv28688 CNV loss 19812545
esv3304817 CNV mobile element insertion 20981092
esv3310514 CNV novel sequence insertion 20981092
esv3345755 CNV insertion 20981092
esv3347816 CNV duplication 20981092
esv3351162 CNV duplication 20981092
esv3363193 CNV insertion 20981092
esv3394495 CNV duplication 20981092
esv3410484 CNV duplication 20981092
esv3418854 CNV insertion 20981092
esv3421992 CNV insertion 20981092
esv3540344 CNV deletion 23714750
esv3541122 CNV deletion 23714750
esv3541344 CNV deletion 23714750
esv3541455 CNV deletion 23714750
esv3577713 CNV loss 25503493
esv3585114 CNV loss 21293372
esv3585117 CNV loss 21293372
esv3585118 CNV loss 21293372
esv3585119 CNV loss 21293372
esv3585122 CNV loss 21293372
esv3585123 CNV gain 21293372
esv3585124 CNV loss 21293372
esv3585126 CNV loss 21293372
esv3585127 CNV loss 21293372
esv3585129 CNV loss 21293372
esv3585130 CNV loss 21293372
esv3915 CNV loss 18987735
esv7233 CNV loss 19470904
esv8105 CNV loss 19470904
esv988826 CNV insertion 20482838
esv990496 CNV deletion 20482838
esv993163 CNV deletion 20482838
esv999225 CNV deletion 20482838
nsv1001550 CNV gain 25217958
nsv1004598 CNV gain 25217958
nsv1011512 CNV loss 25217958
nsv1074663 CNV deletion 25765185
nsv1075090 CNV deletion 25765185
nsv1075096 CNV deletion 25765185
nsv1075104 CNV deletion 25765185
nsv1075512 CNV deletion 25765185
nsv1075515 CNV deletion 25765185
nsv1075528 CNV deletion 25765185
nsv1075533 CNV deletion 25765185
nsv1075535 CNV deletion 25765185
nsv1076034 CNV deletion 25765185
nsv1076048 CNV deletion 25765185
nsv1076053 CNV deletion 25765185
nsv1076313 CNV duplication 25765185
nsv1113070 CNV deletion 24896259
nsv1115335 CNV duplication 24896259
nsv1115336 CNV duplication 24896259
nsv1116484 OTHER inversion 24896259
nsv1116585 CNV tandem duplication 24896259
nsv1116586 CNV tandem duplication 24896259
nsv1116587 CNV tandem duplication 24896259
nsv1121746 CNV deletion 24896259
nsv1122289 CNV deletion 24896259
nsv1124184 CNV deletion 24896259
nsv1124559 CNV duplication 24896259
nsv1125168 CNV insertion 24896259
nsv1129456 CNV tandem duplication 24896259
nsv1132279 CNV duplication 24896259
nsv1133126 CNV tandem duplication 24896259
nsv1133802 CNV deletion 24896259
nsv1133804 CNV deletion 24896259
nsv1137208 CNV deletion 24896259
nsv1137723 CNV deletion 24896259
nsv1140405 CNV tandem duplication 24896259
nsv1144346 CNV deletion 24896259
nsv1144347 CNV deletion 24896259
nsv1145316 CNV deletion 24896259
nsv1147277 CNV deletion 26484159
nsv1153206 CNV duplication 26484159
nsv1153960 CNV deletion 26484159
nsv1410 CNV insertion 18451855
nsv462394 CNV loss 19166990
nsv476621 CNV novel sequence insertion 20440878
nsv512714 CNV insertion 21212237
nsv512715 CNV insertion 21212237
nsv518903 CNV loss 19592680
nsv519205 CNV loss 19592680
nsv520077 CNV loss 19592680
nsv522589 CNV loss 19592680
nsv526782 CNV loss 19592680
nsv527338 CNV loss 19592680
nsv527595 CNV loss 19592680
nsv545273 CNV loss 21841781
nsv545283 CNV gain+loss 21841781
nsv545289 CNV loss 21841781
nsv545296 CNV loss 21841781
nsv545297 CNV loss 21841781
nsv545298 CNV loss 21841781
nsv545299 CNV loss 21841781
nsv545300 CNV loss 21841781
nsv545301 CNV loss 21841781
nsv545333 CNV loss 21841781
nsv545335 CNV loss 21841781
nsv545336 CNV loss 21841781
nsv7991 CNV gain 18304495
nsv819302 CNV loss 19587683
nsv820592 CNV deletion 20802225
nsv826364 CNV gain 20364138
nsv826475 CNV loss 20364138
nsv826808 CNV gain 20364138
nsv831758 CNV gain+loss 17160897
nsv953452 CNV deletion 24416366
nsv955211 CNV deletion 24416366
nsv955212 CNV deletion 24416366
nsv955213 CNV deletion 24416366
nsv955214 CNV deletion 24416366
nsv955443 CNV deletion 24416366
nsv958568 CNV deletion 24416366

Variation tolerance for CAMTA1 Gene

Residual Variation Intolerance Score: 6.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMTA1 Gene

Human Gene Mutation Database (HGMD)
CAMTA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMTA1

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

Disorders for CAMTA1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CAMTA1 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CAMTA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAMTA1: view

No data available for Genatlas for CAMTA1 Gene

Publications for CAMTA1 Gene

  1. Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. (PMID: 17470457) Huentelman MJ … Stephan DA (Human molecular genetics 2007) 3 23 41 54
  2. Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. (PMID: 17222547) Henrich KO … Westermann F (European journal of cancer (Oxford, England : 1990) 2007) 3 4 23 54
  3. Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells. (PMID: 15138581) Nakatani K … Nobori T (International journal of oncology 2004) 3 4 23 54
  4. A novel family of calmodulin-binding transcription activators in multicellular organisms. (PMID: 11925432) Bouché N … Fromm H (The Journal of biological chemistry 2002) 2 3 4 54
  5. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. (PMID: 22693284) Thevenon J … Thauvin-Robinet C (Journal of medical genetics 2012) 3 4 54

Products for CAMTA1 Gene

Sources for CAMTA1 Gene