Q9Y6Y1 · CMTA1_HUMAN
- ProteinCalmodulin-binding transcription activator 1
- GeneCAMTA1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1673 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcriptional activator.
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.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 63-188 | CG-1 | ||||
Sequence: KCSSLPKERHRWNTNEEIAAYLITFEKHEEWLTTSPKTRPQNGSMILYNRKKVKYRKDGYCWKKRKDGKTTREDHMKLKVQGVECLYGCYVHSSIIPTFHRRCYWLLQNPDIVLVHYLNVPAIEDC |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | nucleolus | |
Cellular Component | nucleus | |
Molecular Function | double-stranded DNA binding | |
Molecular Function | sequence-specific DNA binding | |
Molecular Function | transcription coregulator activity | |
Biological Process | neuromuscular process controlling balance | |
Biological Process | positive regulation of calcineurin-NFAT signaling cascade | |
Biological Process | positive regulation of protein dephosphorylation | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | regulation of transcription by RNA polymerase II |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCalmodulin-binding transcription activator 1
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y6Y1
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA)
- Note
- DescriptionAn autosomal dominant 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.
- See alsoMIM:614756
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_047824 | 1177 | in dbSNP:rs41278952 | |||
Sequence: N → K | ||||||
Natural variant | VAR_047825 | 1218 | in dbSNP:rs41278954 | |||
Sequence: N → T | ||||||
Natural variant | VAR_047826 | 1336 | in dbSNP:rs137974312 | |||
Sequence: T → I | ||||||
Natural variant | VAR_085043 | 1473 | found in patients with late onset progressive myoclonus epilepsy; uncertain significance; dbSNP:rs776553769 | |||
Sequence: S → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,726 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000235820 | 1-1673 | Calmodulin-binding transcription activator 1 | |||
Sequence: MWRAEGKWLPKTSRKSVSQSVFCGTSTYCVLNTVPPIEDDHGNSNSSHVKIFLPKKLLECLPKCSSLPKERHRWNTNEEIAAYLITFEKHEEWLTTSPKTRPQNGSMILYNRKKVKYRKDGYCWKKRKDGKTTREDHMKLKVQGVECLYGCYVHSSIIPTFHRRCYWLLQNPDIVLVHYLNVPAIEDCGKPCGPILCSINTDKKEWAKWTKEELIGQLKPMFHGIKWTCSNGNSSSGFSVEQLVQQILDSHQTKPQPRTHNCLCTGSLGAGGSVHHKCNSAKHRIISPKVEPRTGGYGSHSEVQHNDVSEGKHEHSHSKGSSREKRNGKVAKPVLLHQSSTEVSSTNQVEVPDTTQSSPVSISSGLNSDPDMVDSPVVTGVSGMAVASVMGSLSQSATVFMSEVTNEAVYTMSPTAGPNHHLLSPDASQGLVLAVSSDGHKFAFPTTGSSESLSMLPTNVSEELVLSTTLDGGRKIPETTMNFDPDCFLNNPKQGQTYGGGGLKAEMVSSNIRHSPPGERSFSFTTVLTKEIKTEDTSFEQQMAKEAYSSSAAAVAASSLTLTAGSSLLPSGGGLSPSTTLEQMDFSAIDSNKDYTSSFSQTGHSPHIHQTPSPSFFLQDASKPLPVEQNTHSSLSDSGGTFVMPTVKTEASSQTSSCSGHVETRIESTSSLHLMQFQANFQAMTAEGEVTMETSQAAEGSEVLLKSGELQACSSEHYLQPETNGVIRSAGGVPILPGNVVQGLYPVAQPSLGNASNMELSLDHFDISFSNQFSDLINDFISVEGGSSTIYGHQLVSGDSTALSQSEDGARAPFTQAEMCLPCCSPQQGSLQLSSSEGGASTMAYMHVAEVVSAASAQGTLGMLQQSGRVFMVTDYSPEWSYPEGGVKVLITGPWQEASNNYSCLFDQISVPASLIQPGVLRCYCPAHDTGLVTLQVAFNNQIISNSVVFEYKARALPTLPSSQHDWLSLDDNQFRMSILERLEQMERRMAEMTGSQQHKQASGGGSSGGGSGSGNGGSQAQCASGTGALGSCFESRVVVVCEKMMSRACWAKSKHLIHSKTFRGMTLLHLAAAQGYATLIQTLIKWRTKHADSIDLELEVDPLNVDHFSCTPLMWACALGHLEAAVVLYKWDRRAISIPDSLGRLPLGIARSRGHVKLAECLEHLQRDEQAQLGQNPRIHCPASEEPSTESWMAQWHSEAISSPEIPKGVTVIASTNPELRRPRSEPSNYYSSESHKDYPAPKKHKLNPEYFQTRQEKLLPTALSLEEPNIRKQSPSSKQSVPETLSPSEGVRDFSRELSPPTPETAAFQASGSQPVGKWNSKDLYIGVSTVQVTGNPKGTSVGKEAAPSQVRPREPMSVLMMANREVVNTELGSYRDSAENEECGQPMDDIQVNMMTLAEHIIEATPDRIKQENFVPMESSGLERTDPATISSTMSWLASYLADADCLPSAAQIRSAYNEPLTPSSNTSLSPVGSPVSEIAFEKPNLPSAADWSEFLSASTSEKVENEFAQLTLSDHEQRELYEAARLVQTAFRKYKGRPLREQQEVAAAVIQRCYRKYKQYALYKKMTQAAILIQSKFRSYYEQKKFQQSRRAAVLIQKYYRSYKKCGKRRQARRTAVIVQQKLRSSLLTKKQDQAARKIMRFLRRCRHSPLVDHRLYKRSERIEKGQGT |
Proteomic databases
PTM databases
Expression
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.
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 expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for motif, region, compositional bias, domain, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Motif | 112-119 | Nuclear localization signal | ||||
Sequence: RKKVKYRK | ||||||
Region | 283-375 | Disordered | ||||
Sequence: HRIISPKVEPRTGGYGSHSEVQHNDVSEGKHEHSHSKGSSREKRNGKVAKPVLLHQSSTEVSSTNQVEVPDTTQSSPVSISSGLNSDPDMVDS | ||||||
Compositional bias | 305-331 | Basic and acidic residues | ||||
Sequence: HNDVSEGKHEHSHSKGSSREKRNGKVA | ||||||
Compositional bias | 337-370 | Polar residues | ||||
Sequence: HQSSTEVSSTNQVEVPDTTQSSPVSISSGLNSDP | ||||||
Domain | 875-953 | IPT/TIG | ||||
Sequence: DYSPEWSYPEGGVKVLITGPWQEASNNYSCLFDQISVPASLIQPGVLRCYCPAHDTGLVTLQVAFNNQIISNSVVFEYK | ||||||
Region | 990-1021 | Disordered | ||||
Sequence: MAEMTGSQQHKQASGGGSSGGGSGSGNGGSQA | ||||||
Compositional bias | 991-1021 | Polar residues | ||||
Sequence: AEMTGSQQHKQASGGGSSGGGSGSGNGGSQA | ||||||
Repeat | 1064-1093 | ANK 1 | ||||
Sequence: RGMTLLHLAAAQGYATLIQTLIKWRTKHAD | ||||||
Repeat | 1109-1129 | ANK 2 | ||||
Sequence: FSCTPLMWACALGHLEAAVVL | ||||||
Repeat | 1143-1172 | ANK 3 | ||||
Sequence: LGRLPLGIARSRGHVKLAECLEHLQRDEQA | ||||||
Region | 1215-1246 | Disordered | ||||
Sequence: ASTNPELRRPRSEPSNYYSSESHKDYPAPKKH | ||||||
Compositional bias | 1222-1236 | Polar residues | ||||
Sequence: RRPRSEPSNYYSSES | ||||||
Region | 1264-1317 | Disordered | ||||
Sequence: ALSLEEPNIRKQSPSSKQSVPETLSPSEGVRDFSRELSPPTPETAAFQASGSQP | ||||||
Compositional bias | 1269-1288 | Polar residues | ||||
Sequence: EPNIRKQSPSSKQSVPETLS | ||||||
Domain | 1547-1576 | IQ 1 | ||||
Sequence: QEVAAAVIQRCYRKYKQYALYKKMTQAAIL | ||||||
Domain | 1577-1599 | IQ 2 | ||||
Sequence: IQSKFRSYYEQKKFQQSRRAAVL | ||||||
Domain | 1600-1622 | IQ 3 | ||||
Sequence: IQKYYRSYKKCGKRRQARRTAVI |
Sequence similarities
Belongs to the CAMTA family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q9Y6Y1-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,673
- Mass (Da)183,672
- Last updated2006-05-16 v4
- Checksum008AA6A906374C00
Q9Y6Y1-2
- Name2
- Differences from canonical
- 1458-1471: Missing
- 1653-1673: SPLVDHRLYKRSERIEKGQGT → RVKELKKAKELEDIQQHPLAM
Q9Y6Y1-3
- Name3
Q9Y6Y1-4
- Name4
Computationally mapped potential isoform sequences
There are 24 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YJR7 | H0YJR7_HUMAN | CAMTA1 | 239 | ||
H0YJK7 | H0YJK7_HUMAN | CAMTA1 | 33 | ||
H0YJG5 | H0YJG5_HUMAN | CAMTA1 | 39 | ||
H0YJY7 | H0YJY7_HUMAN | CAMTA1 | 60 | ||
H0YJV1 | H0YJV1_HUMAN | CAMTA1 | 73 | ||
G3V297 | G3V297_HUMAN | CAMTA1 | 92 | ||
A0AA34QVU6 | A0AA34QVU6_HUMAN | CAMTA1 | 685 | ||
A0AA34QVZ9 | A0AA34QVZ9_HUMAN | CAMTA1 | 572 | ||
A0A8V8TQA4 | A0A8V8TQA4_HUMAN | CAMTA1 | 577 | ||
A0A8V8TR75 | A0A8V8TR75_HUMAN | CAMTA1 | 58 | ||
A0A8V8TR82 | A0A8V8TR82_HUMAN | CAMTA1 | 690 | ||
A0A8V8TR85 | A0A8V8TR85_HUMAN | CAMTA1 | 235 | ||
A0A8V8TQX1 | A0A8V8TQX1_HUMAN | CAMTA1 | 83 | ||
A0A8V8TQX5 | A0A8V8TQX5_HUMAN | CAMTA1 | 50 | ||
A0A8V8TQX9 | A0A8V8TQX9_HUMAN | CAMTA1 | 591 | ||
A0A8V8TPN7 | A0A8V8TPN7_HUMAN | CAMTA1 | 105 | ||
A0A8V8TPP2 | A0A8V8TPP2_HUMAN | CAMTA1 | 955 | ||
A0A8V8TPQ2 | A0A8V8TPQ2_HUMAN | CAMTA1 | 697 | ||
A0A8V8TPQ7 | A0A8V8TPQ7_HUMAN | CAMTA1 | 145 | ||
A0A8V8TQ65 | A0A8V8TQ65_HUMAN | CAMTA1 | 1537 | ||
A0A8V8TQ84 | A0A8V8TQ84_HUMAN | CAMTA1 | 591 | ||
A0A8V8TQ87 | A0A8V8TQ87_HUMAN | CAMTA1 | 1536 | ||
A0A8V8TQ98 | A0A8V8TQ98_HUMAN | CAMTA1 | 789 | ||
A0A0C4DGL0 | A0A0C4DGL0_HUMAN | CAMTA1 | 1560 |
Sequence caution
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_043842 | 79-80 | in isoform 3 | |||
Sequence: EI → RS | ||||||
Alternative sequence | VSP_046358 | 79-101 | in isoform 4 | |||
Sequence: EIAAYLITFEKHEEWLTTSPKTR → ALTTHLFMGAAKKRDPQSWSHEG | ||||||
Alternative sequence | VSP_043843 | 81-1673 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_046359 | 102-1673 | in isoform 4 | |||
Sequence: Missing | ||||||
Compositional bias | 305-331 | Basic and acidic residues | ||||
Sequence: HNDVSEGKHEHSHSKGSSREKRNGKVA | ||||||
Compositional bias | 337-370 | Polar residues | ||||
Sequence: HQSSTEVSSTNQVEVPDTTQSSPVSISSGLNSDP | ||||||
Compositional bias | 991-1021 | Polar residues | ||||
Sequence: AEMTGSQQHKQASGGGSSGGGSGSGNGGSQA | ||||||
Compositional bias | 1222-1236 | Polar residues | ||||
Sequence: RRPRSEPSNYYSSES | ||||||
Compositional bias | 1269-1288 | Polar residues | ||||
Sequence: EPNIRKQSPSSKQSVPETLS | ||||||
Alternative sequence | VSP_035936 | 1458-1471 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_035937 | 1653-1673 | in isoform 2 | |||
Sequence: SPLVDHRLYKRSERIEKGQGT → RVKELKKAKELEDIQQHPLAM |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB020640 EMBL· GenBank· DDBJ | BAA74856.3 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AY037153 EMBL· GenBank· DDBJ | AAK67633.1 EMBL· GenBank· DDBJ | mRNA | ||
AL359881 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL365194 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL590128 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL596210 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
Z97635 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
Z98052 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
Z98884 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471130 EMBL· GenBank· DDBJ | EAW71580.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
BC116457 EMBL· GenBank· DDBJ | AAI16458.1 EMBL· GenBank· DDBJ | mRNA | ||
BC151835 EMBL· GenBank· DDBJ | AAI51836.1 EMBL· GenBank· DDBJ | mRNA | ||
CD103791 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AF111804 EMBL· GenBank· DDBJ | AAL39006.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AY349360 EMBL· GenBank· DDBJ | AAQ56724.1 EMBL· GenBank· DDBJ | mRNA |