CAMTA1
entrez
23261
canonical
uniprot
Q9Y6Y1
canonical
ensembl
ENSG00000171735
resolver
ensp
ENSP00000306522
resolver
ensp
ENSP00000450530
resolver
ensp
ENSP00000451388
resolver
ensp
ENSP00000451510
resolver
ensp
ENSP00000452319
resolver
ensp
ENSP00000514979
resolver
ensp
ENSP00000514981
resolver
ensp
ENSP00000514994
resolver
ensp
ENSP00000514995
resolver
ensp
ENSP00000514996
resolver
ensp
ENSP00000514997
resolver
ensp
ENSP00000518175
resolver
ensp
ENSP00000789757
resolver
enst
ENST00000467404
resolver
enst
ENST00000476864
resolver
enst
ENST00000700415
resolver
enst
ENST00000700417
resolver
enst
ENST00000700421
resolver
enst
ENST00000700423
resolver
enst
ENST00000700424
resolver
genesymbol
CAMTA1
resolver
genesymbol_syn
KIAA0833
resolver
hgnc
HGNC:18806
resolver
uniprot
A0A0C4DGL0
resolver
uniprot
A0A8V8TPQ2
resolver
uniprot
A0A8V8TQ65
resolver
uniprot
A0A8V8TQ84
resolver
uniprot
A0A8V8TQ87
resolver
uniprot
A0A8V8TQX9
resolver
uniprot
A7MBM4
resolver
uniprot
G3V297
resolver
uniprot
G3V3Z7
resolver
uniprot
Q5VUE1
resolver
uniprot
Q6V701
resolver
uniprot
Q8WYI3
resolver
uniprot
Q96S92
resolver
uniprot_entry
A0A0C4DGL0_HUMAN
resolver
uniprot_entry
A0A8V8TPQ2_HUMAN
resolver
uniprot_entry
A0A8V8TQ65_HUMAN
resolver
uniprot_entry
A0A8V8TQ84_HUMAN
resolver
uniprot_entry
A0A8V8TQ87_HUMAN
resolver
uniprot_entry
A0A8V8TQX9_HUMAN
resolver
uniprot_entry
CMTA1_HUMAN
resolver
uniprot_entry
G3V297_HUMAN
resolver
uniprot_sec
A7MBM4
resolver
uniprot_sec
G3V3Z7
resolver
uniprot_sec
Q5VUE1
resolver
uniprot_sec
Q6V701
resolver
uniprot_sec
Q8WYI3
resolver
uniprot_sec
Q96S92
resolver
amino_acid_sequence
MWRAEGKWLPKTSRKSVSQSVFCGTSTYCVLNTVPPIEDDHGNSNSSHVKIFLPKKLLECLPKCSSLPKERHRWNTNEEIAAYLITFEKHEEWLTTSPKTRPQNGSMILYNRKKVKYRKDGYCWKKRKDGKTTREDHMKLKVQGVECLYGCYVHSSIIPTFHRRCYWLLQNPDIVLVHYLNVPAIEDCGKPCGPILCSINTDKKEWAKWTKEELIGQLKPMFHGIKWTCSNGNSSSGFSVEQLVQQILDSHQTKPQPRTHNCLCTGSLGAGGSVHHKCNSAKHRIISPKVEPRTGGYGSHSEVQHNDVSEGKHEHSHSKGSSREKRNGKVAKPVLLHQSSTEVSSTNQVEVPDTTQSSPVSISSGLNSDPDMVDSPVVTGVSGMAVASVMGSLSQSATVFMSEVTNEAVYTMSPTAGPNHHLLSPDASQGLVLAVSSDGHKFAFPTTGSSESLSMLPTNVSEELVLSTTLDGGRKIPETTMNFDPDCFLNNPKQGQTYGGGGLKAEMVSSNIRHSPPGERSFSFTTVLTKEIKTEDTSFEQQMAKEAYSSSAAAVAASSLTLTAGSSLLPSGGGLSPSTTLEQMDFSAIDSNKDYTSSFSQTGHSPHIHQTPSPSFFLQDASKPLPVEQNTHSSLSDSGGTFVMPTVKTEASSQTSSCSGHVETRIESTSSLHLMQFQANFQAMTAEGEVTMETSQAAEGSEVLLKSGELQACSSEHYLQPETNGVIRSAGGVPILPGNVVQGLYPVAQPSLGNASNMELSLDHFDISFSNQFSDLINDFISVEGGSSTIYGHQLVSGDSTALSQSEDGARAPFTQAEMCLPCCSPQQGSLQLSSSEGGASTMAYMHVAEVVSAASAQGTLGMLQQSGRVFMVTDYSPEWSYPEGGVKVLITGPWQEASNNYSCLFDQISVPASLIQPGVLRCYCPAHDTGLVTLQVAFNNQIISNSVVFEYKARALPTLPSSQHDWLSLDDNQFRMSILERLEQMERRMAEMTGSQQHKQASGGGSSGGGSGSGNGGSQAQCASGTGALGSCFESRVVVVCEKMMSRACWAKSKHLIHSKTFRGMTLLHLAAAQGYATLIQTLIKWRTKHADSIDLELEVDPLNVDHFSCTPLMWACALGHLEAAVVLYKWDRRAISIPDSLGRLPLGIARSRGHVKLAECLEHLQRDEQAQLGQNPRIHCPASEEPSTESWMAQWHSEAISSPEIPKGVTVIASTNPELRRPRSEPSNYYSSESHKDYPAPKKHKLNPEYFQTRQEKLLPTALSLEEPNIRKQSPSSKQSVPETLSPSEGVRDFSRELSPPTPETAAFQASGSQPVGKWNSKDLYIGVSTVQVTGNPKGTSVGKEAAPSQVRPREPMSVLMMANREVVNTELGSYRDSAENEECGQPMDDIQVNMMTLAEHIIEATPDRIKQENFVPMESSGLERTDPATISSTMSWLASYLADADCLPSAAQIRSAYNEPLTPSSNTSLSPVGSPVSEIAFEKPNLPSAADWSEFLSASTSEKVENEFAQLTLSDHEQRELYEAARLVQTAFRKYKGRPLREQQEVAAAVIQRCYRKYKQYALYKKMTQAAILIQSKFRSYYEQKKFQQSRRAAVLIQKYYRSYKKCGKRRQARRTAVIVQQKLRSSLLTKKQDQAARKIMRFLRRCRHSPLVDHRLYKRSERIEKGQGT
uniprot
proteins
disease_involvement
DISEASE: Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) [MIM:614756]: An 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. {ECO:0000269|PubMed:22693284}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator. {ECO:0000269|PubMed:11925432}.
uniprot
proteins
mass_dalton
183672
uniprot
proteins
protein_family
CAMTA family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
11925432
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15138581
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15709179
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17222547
uniprot
proteins
pubmed
22693284
uniprot
proteins
pubmed
33798445
uniprot
proteins
sequence_length
1673
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:11925432}. Cytoplasm {ECO:0000305|PubMed:15138581}.
uniprot
proteins