CMTA1_HUMAN
ID CMTA1_HUMAN Reviewed; 1673 AA.
AC Q9Y6Y1; A7MBM4; G3V3Z7; Q5VUE1; Q6V701; Q8WYI3; Q96S92;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 4.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Calmodulin-binding transcription activator 1 {ECO:0000312|HGNC:HGNC:18806};
GN Name=CAMTA1 {ECO:0000312|HGNC:HGNC:18806};
GN Synonyms=KIAA0833 {ECO:0000312|EMBL:BAA74856.3};
GN ORFNames=MSTP023 {ECO:0000312|EMBL:AAL39006.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000312|EMBL:BAA74856.3}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RA Li N., Zhang M., Wan T., Zhang W., Cao X.;
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1422-1673 (ISOFORM 2).
RC TISSUE=Heart;
RA Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., Song L.,
RA Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Sun Y.H.,
RA Jiang Y.X., Zhao X.W., Liu S., Liu L.S., Ding J.F., Gao R.L., Qiang B.Q.,
RA Yuan J.G., Liew C.C., Zhao M.S., Hui R.T.;
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1437-1673 (ISOFORM 2).
RA Li H., Li S., Yu R., Shen C., Zhou G., Ke R., Lin L., Yang S.;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP FUNCTION, SUBUNIT, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=11925432; DOI=10.1074/jbc.m200268200;
RA Bouche N., Scharlat A., Snedden W., Bouchez D., Fromm H.;
RT "A novel family of calmodulin-binding transcription activators in
RT multicellular organisms.";
RL J. Biol. Chem. 277:21851-21861(2002).
RN [10]
RP INDUCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=15138581;
RA Nakatani K., Nishioka J., Itakura T., Nakanishi Y., Horinouchi J., Abe Y.,
RA Wada H., Nobori T.;
RT "Cell cycle-dependent transcriptional regulation of calmodulin-binding
RT transcription activator 1 in neuroblastoma cells.";
RL Int. J. Oncol. 24:1407-1412(2004).
RN [11]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=15709179;
RA Barbashina V., Salazar P., Holland E.C., Rosenblum M.K., Ladanyi M.;
RT "Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic
RT classification, definition of a 150-kb minimal deleted region on 1p36, and
RT evaluation of CAMTA1 as a candidate tumor suppressor gene.";
RL Clin. Cancer Res. 11:1119-1128(2005).
RN [12]
RP INVOLVEMENT IN CECBA.
RX PubMed=22693284; DOI=10.1136/jmedgenet-2012-100856;
RA Thevenon J., Lopez E., Keren B., Heron D., Mignot C., Altuzarra C.,
RA Beri-Dexheimer M., Bonnet C., Magnin E., Burglen L., Minot D., Vigneron J.,
RA Morle S., Anheim M., Charles P., Brice A., Gallagher L., Amiel J.,
RA Haffen E., Mach C., Depienne C., Doummar D., Bonnet M., Duplomb L.,
RA Carmignac V., Callier P., Marle N., Mosca-Boidron A.L., Roze V., Aral B.,
RA Razavi F., Jonveaux P., Faivre L., Thauvin-Robinet C.;
RT "Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia
RT with or without intellectual disability.";
RL J. Med. Genet. 49:400-408(2012).
RN [13]
RP X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 872-953.
RG RIKEN structural genomics initiative (RSGI);
RT "Crystal structure of the TIG domain of human calmodulin-binding
RT transcription activator 1 (CAMTA1).";
RL Submitted (DEC-2005) to the PDB data bank.
RN [14]
RP VARIANTS LYS-1177; THR-1218 AND ILE-1336.
RX PubMed=17222547; DOI=10.1016/j.ejca.2006.09.023;
RA Henrich K.-O., Claas A., Praml C., Benner A., Mollenhauer J., Poustka A.,
RA Schwab M., Westermann F.;
RT "Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region
RT at 1p36 in neuroblastoma.";
RL Eur. J. Cancer 43:607-616(2007).
RN [15]
RP VARIANT THR-1473.
RX PubMed=33798445; DOI=10.1016/j.ajhg.2021.03.013;
RA Courage C., Oliver K.L., Park E.J., Cameron J.M., Grabinska K.A., Muona M.,
RA Canafoglia L., Gambardella A., Said E., Afawi Z., Baykan B., Brandt C.,
RA di Bonaventura C., Chew H.B., Criscuolo C., Dibbens L.M., Castellotti B.,
RA Riguzzi P., Labate A., Filla A., Giallonardo A.T., Berecki G.,
RA Jackson C.B., Joensuu T., Damiano J.A., Kivity S., Korczyn A., Palotie A.,
RA Striano P., Uccellini D., Giuliano L., Andermann E., Scheffer I.E.,
RA Michelucci R., Bahlo M., Franceschetti S., Sessa W.C., Berkovic S.F.,
RA Lehesjoki A.E.;
RT "Progressive myoclonus epilepsies-Residual unsolved cases have marked
RT genetic heterogeneity including dolichol-dependent protein glycosylation
RT pathway genes.";
RL Am. J. Hum. Genet. 108:722-738(2021).
CC -!- FUNCTION: Transcriptional activator. {ECO:0000269|PubMed:11925432}.
CC -!- SUBUNIT: May interact with calmodulin. {ECO:0000305|PubMed:11925432}.
CC -!- INTERACTION:
CC Q9Y6Y1; O75381: PEX14; NbExp=2; IntAct=EBI-1222733, EBI-594898;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:11925432}. Cytoplasm
CC {ECO:0000305|PubMed:15138581}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9Y6Y1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y6Y1-2; Sequence=VSP_035936, VSP_035937;
CC Name=3;
CC IsoId=Q9Y6Y1-3; Sequence=VSP_043842, VSP_043843;
CC Name=4;
CC IsoId=Q9Y6Y1-4; Sequence=VSP_046358, VSP_046359;
CC -!- TISSUE SPECIFICITY: Normally expressed in non-neoplastic adult central
CC nervous system tissues: detected in whole brain, cerebellum, brain
CC cortex, occipital lobe, frontal lobe, temporal lobe, putamen.
CC Expression levels are low in oligodendroglial tumors, and are reduced
CC by half in oligodendroglioma and astrocytoma cases with 1p loss of
CC heterozygosity. Detected in neuroblastic-type cultured neuroblastoma
CC cells. Expressed in heart and kidney. {ECO:0000269|PubMed:11925432,
CC ECO:0000269|PubMed:15138581, ECO:0000269|PubMed:15709179}.
CC -!- INDUCTION: Detected at low levels at interphase and in resting cells.
CC Up-regulated during S phase and mitosis. Levels decrease at the end of
CC mitosis. {ECO:0000269|PubMed:15138581}.
CC -!- DISEASE: Cerebellar dysfunction with variable cognitive and behavioral
CC abnormalities (CECBA) [MIM:614756]: An autosomal dominant
CC neurodevelopmental disorder characterized by mildly delayed psychomotor
CC development, early onset of cerebellar ataxia, and intellectual
CC disability later in childhood and adult life. Other features may
CC include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in
CC some patients shows cerebellar atrophy. Dysmorphic facial features are
CC variable. {ECO:0000269|PubMed:22693284}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: A very small segment of 1p36 located within CAMTA1 is
CC deleted in all oligodendroglial tumors with 1p LOH. This minimal
CC deleted region (MDR) also overlaps the neuroblastoma 1p36 MDR. CAMTA1
CC shows no evidence of inactivation by somatic mutations.
CC -!- SIMILARITY: Belongs to the CAMTA family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL39006.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA74856.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW71580.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CAMTA1ID908ch1p36.html";
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DR EMBL; AB020640; BAA74856.3; ALT_INIT; mRNA.
DR EMBL; AY037153; AAK67633.1; -; mRNA.
DR EMBL; AL359881; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365194; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590128; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL596210; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z97635; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z98052; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z98884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471130; EAW71580.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC116457; AAI16458.1; -; mRNA.
DR EMBL; BC151835; AAI51836.1; -; mRNA.
DR EMBL; CD103791; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF111804; AAL39006.1; ALT_INIT; mRNA.
DR EMBL; AY349360; AAQ56724.1; -; mRNA.
DR CCDS; CCDS30576.1; -. [Q9Y6Y1-1]
DR CCDS; CCDS55574.1; -. [Q9Y6Y1-3]
DR CCDS; CCDS55575.1; -. [Q9Y6Y1-4]
DR RefSeq; NP_001182492.1; NM_001195563.1. [Q9Y6Y1-3]
DR RefSeq; NP_001229630.1; NM_001242701.1. [Q9Y6Y1-4]
DR RefSeq; NP_056030.1; NM_015215.3. [Q9Y6Y1-1]
DR PDB; 2CXK; X-ray; 1.85 A; A/B/C/D/E=872-953.
DR PDBsum; 2CXK; -.
DR AlphaFoldDB; Q9Y6Y1; -.
DR SMR; Q9Y6Y1; -.
DR BioGRID; 116863; 8.
DR IntAct; Q9Y6Y1; 5.
DR STRING; 9606.ENSP00000306522; -.
DR GlyGen; Q9Y6Y1; 1 site.
DR iPTMnet; Q9Y6Y1; -.
DR PhosphoSitePlus; Q9Y6Y1; -.
DR BioMuta; CAMTA1; -.
DR DMDM; 97046872; -.
DR MassIVE; Q9Y6Y1; -.
DR PaxDb; Q9Y6Y1; -.
DR PeptideAtlas; Q9Y6Y1; -.
DR PRIDE; Q9Y6Y1; -.
DR ProteomicsDB; 86825; -. [Q9Y6Y1-1]
DR ProteomicsDB; 86826; -. [Q9Y6Y1-2]
DR ProteomicsDB; 86827; -. [Q9Y6Y1-3]
DR Antibodypedia; 49059; 69 antibodies from 18 providers.
DR DNASU; 23261; -.
DR Ensembl; ENST00000303635.12; ENSP00000306522.6; ENSG00000171735.19. [Q9Y6Y1-1]
DR Ensembl; ENST00000473578.5; ENSP00000451388.1; ENSG00000171735.19. [Q9Y6Y1-3]
DR Ensembl; ENST00000557126.5; ENSP00000451510.1; ENSG00000171735.19. [Q9Y6Y1-4]
DR GeneID; 23261; -.
DR KEGG; hsa:23261; -.
DR MANE-Select; ENST00000303635.12; ENSP00000306522.6; NM_015215.4; NP_056030.1.
DR UCSC; uc001aoh.4; human. [Q9Y6Y1-1]
DR CTD; 23261; -.
DR DisGeNET; 23261; -.
DR GeneCards; CAMTA1; -.
DR HGNC; HGNC:18806; CAMTA1.
DR HPA; ENSG00000171735; Low tissue specificity.
DR MalaCards; CAMTA1; -.
DR MIM; 611501; gene.
DR MIM; 614756; phenotype.
DR neXtProt; NX_Q9Y6Y1; -.
DR OpenTargets; ENSG00000171735; -.
DR Orphanet; 157791; Epithelioid hemangioendothelioma.
DR Orphanet; 314647; Non-progressive cerebellar ataxia with intellectual disability.
DR PharmGKB; PA38688; -.
DR VEuPathDB; HostDB:ENSG00000171735; -.
DR eggNOG; KOG0520; Eukaryota.
DR GeneTree; ENSGT00940000155203; -.
DR HOGENOM; CLU_003170_1_0_1; -.
DR InParanoid; Q9Y6Y1; -.
DR OMA; CSPQQGG; -.
DR OrthoDB; 315169at2759; -.
DR PhylomeDB; Q9Y6Y1; -.
DR TreeFam; TF323452; -.
DR PathwayCommons; Q9Y6Y1; -.
DR SignaLink; Q9Y6Y1; -.
DR SIGNOR; Q9Y6Y1; -.
DR BioGRID-ORCS; 23261; 7 hits in 1099 CRISPR screens.
DR ChiTaRS; CAMTA1; human.
DR EvolutionaryTrace; Q9Y6Y1; -.
DR GeneWiki; CAMTA1; -.
DR GenomeRNAi; 23261; -.
DR Pharos; Q9Y6Y1; Tbio.
DR PRO; PR:Q9Y6Y1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9Y6Y1; protein.
DR Bgee; ENSG00000171735; Expressed in parotid gland and 193 other tissues.
DR ExpressionAtlas; Q9Y6Y1; baseline and differential.
DR Genevisible; Q9Y6Y1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003690; F:double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0003712; F:transcription coregulator activity; IBA:GO_Central.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0070886; P:positive regulation of calcineurin-NFAT signaling cascade; IMP:BHF-UCL.
DR GO; GO:0035307; P:positive regulation of protein dephosphorylation; IMP:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR039033; Camta1.
DR InterPro; IPR005559; CG-1_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR002909; IPT_dom.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR23335:SF11; PTHR23335:SF11; 1.
DR Pfam; PF03859; CG-1; 1.
DR Pfam; PF00612; IQ; 1.
DR Pfam; PF01833; TIG; 1.
DR SMART; SM01076; CG-1; 1.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR SUPFAM; SSF81296; SSF81296; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
DR PROSITE; PS51437; CG_1; 1.
DR PROSITE; PS50096; IQ; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Activator; Alternative splicing; ANK repeat; Cytoplasm;
KW Intellectual disability; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation.
FT CHAIN 1..1673
FT /note="Calmodulin-binding transcription activator 1"
FT /id="PRO_0000235820"
FT DOMAIN 875..953
FT /note="IPT/TIG"
FT /evidence="ECO:0007744|PDB:2CXK"
FT REPEAT 1064..1093
FT /note="ANK 1"
FT REPEAT 1109..1129
FT /note="ANK 2"
FT REPEAT 1143..1172
FT /note="ANK 3"
FT DOMAIN 1547..1576
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1577..1599
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1600..1622
FT /note="IQ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DNA_BIND 63..188
FT /note="CG-1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00767"
FT REGION 283..375
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 990..1021
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1215..1246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1264..1317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 112..119
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00767"
FT COMPBIAS 305..331
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 337..370
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 991..1021
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1222..1236
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1269..1288
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 79..101
FT /note="EIAAYLITFEKHEEWLTTSPKTR -> ALTTHLFMGAAKKRDPQSWSHEG
FT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046358"
FT VAR_SEQ 79..80
FT /note="EI -> RS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_043842"
FT VAR_SEQ 81..1673
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_043843"
FT VAR_SEQ 102..1673
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046359"
FT VAR_SEQ 1458..1471
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.7, ECO:0000303|Ref.8"
FT /id="VSP_035936"
FT VAR_SEQ 1653..1673
FT /note="SPLVDHRLYKRSERIEKGQGT -> RVKELKKAKELEDIQQHPLAM (in
FT isoform 2)"
FT /evidence="ECO:0000303|Ref.7, ECO:0000303|Ref.8"
FT /id="VSP_035937"
FT VARIANT 1177
FT /note="N -> K (in dbSNP:rs41278952)"
FT /evidence="ECO:0000269|PubMed:17222547"
FT /id="VAR_047824"
FT VARIANT 1218
FT /note="N -> T (in dbSNP:rs41278954)"
FT /evidence="ECO:0000269|PubMed:17222547"
FT /id="VAR_047825"
FT VARIANT 1336
FT /note="T -> I (in dbSNP:rs137974312)"
FT /evidence="ECO:0000269|PubMed:17222547"
FT /id="VAR_047826"
FT VARIANT 1473
FT /note="S -> T (found in patients with late onset
FT progressive myoclonus epilepsy; unknown pathological
FT significance; dbSNP:rs776553769)"
FT /evidence="ECO:0000269|PubMed:33798445"
FT /id="VAR_085043"
FT STRAND 875..877
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 879..881
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 888..894
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 902..906
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 909..912
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 914..917
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 920..924
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 930..939
FT /evidence="ECO:0007829|PDB:2CXK"
FT STRAND 948..952
FT /evidence="ECO:0007829|PDB:2CXK"
SQ SEQUENCE 1673 AA; 183672 MW; 008AA6A906374C00 CRC64;
MWRAEGKWLP KTSRKSVSQS VFCGTSTYCV LNTVPPIEDD HGNSNSSHVK IFLPKKLLEC
LPKCSSLPKE RHRWNTNEEI AAYLITFEKH EEWLTTSPKT RPQNGSMILY NRKKVKYRKD
GYCWKKRKDG KTTREDHMKL KVQGVECLYG CYVHSSIIPT FHRRCYWLLQ NPDIVLVHYL
NVPAIEDCGK PCGPILCSIN TDKKEWAKWT KEELIGQLKP MFHGIKWTCS NGNSSSGFSV
EQLVQQILDS HQTKPQPRTH NCLCTGSLGA GGSVHHKCNS AKHRIISPKV EPRTGGYGSH
SEVQHNDVSE GKHEHSHSKG SSREKRNGKV AKPVLLHQSS TEVSSTNQVE VPDTTQSSPV
SISSGLNSDP DMVDSPVVTG VSGMAVASVM GSLSQSATVF MSEVTNEAVY TMSPTAGPNH
HLLSPDASQG LVLAVSSDGH KFAFPTTGSS ESLSMLPTNV SEELVLSTTL DGGRKIPETT
MNFDPDCFLN NPKQGQTYGG GGLKAEMVSS NIRHSPPGER SFSFTTVLTK EIKTEDTSFE
QQMAKEAYSS SAAAVAASSL TLTAGSSLLP SGGGLSPSTT LEQMDFSAID SNKDYTSSFS
QTGHSPHIHQ TPSPSFFLQD ASKPLPVEQN THSSLSDSGG TFVMPTVKTE ASSQTSSCSG
HVETRIESTS SLHLMQFQAN FQAMTAEGEV TMETSQAAEG SEVLLKSGEL QACSSEHYLQ
PETNGVIRSA GGVPILPGNV VQGLYPVAQP SLGNASNMEL SLDHFDISFS NQFSDLINDF
ISVEGGSSTI YGHQLVSGDS TALSQSEDGA RAPFTQAEMC LPCCSPQQGS LQLSSSEGGA
STMAYMHVAE VVSAASAQGT LGMLQQSGRV FMVTDYSPEW SYPEGGVKVL ITGPWQEASN
NYSCLFDQIS VPASLIQPGV LRCYCPAHDT GLVTLQVAFN NQIISNSVVF EYKARALPTL
PSSQHDWLSL DDNQFRMSIL ERLEQMERRM AEMTGSQQHK QASGGGSSGG GSGSGNGGSQ
AQCASGTGAL GSCFESRVVV VCEKMMSRAC WAKSKHLIHS KTFRGMTLLH LAAAQGYATL
IQTLIKWRTK HADSIDLELE VDPLNVDHFS CTPLMWACAL GHLEAAVVLY KWDRRAISIP
DSLGRLPLGI ARSRGHVKLA ECLEHLQRDE QAQLGQNPRI HCPASEEPST ESWMAQWHSE
AISSPEIPKG VTVIASTNPE LRRPRSEPSN YYSSESHKDY PAPKKHKLNP EYFQTRQEKL
LPTALSLEEP NIRKQSPSSK QSVPETLSPS EGVRDFSREL SPPTPETAAF QASGSQPVGK
WNSKDLYIGV STVQVTGNPK GTSVGKEAAP SQVRPREPMS VLMMANREVV NTELGSYRDS
AENEECGQPM DDIQVNMMTL AEHIIEATPD RIKQENFVPM ESSGLERTDP ATISSTMSWL
ASYLADADCL PSAAQIRSAY NEPLTPSSNT SLSPVGSPVS EIAFEKPNLP SAADWSEFLS
ASTSEKVENE FAQLTLSDHE QRELYEAARL VQTAFRKYKG RPLREQQEVA AAVIQRCYRK
YKQYALYKKM TQAAILIQSK FRSYYEQKKF QQSRRAAVLI QKYYRSYKKC GKRRQARRTA
VIVQQKLRSS LLTKKQDQAA RKIMRFLRRC RHSPLVDHRL YKRSERIEKG QGT
