CIC
entrez
23152
canonical
uniprot
Q96RK0
canonical
ensembl
ENSG00000079432
resolver
ensp
ENSP00000160740
resolver
ensp
ENSP00000458663
resolver
ensp
ENSP00000459719
resolver
ensp
ENSP00000505728
resolver
ensp
ENSP00000538625
resolver
ensp
ENSP00000610391
resolver
ensp
ENSP00000610392
resolver
enst
ENST00000160740
resolver
enst
ENST00000572681
resolver
genesymbol
CIC
resolver
genesymbol_syn
KIAA0306
resolver
hgnc
HGNC:14214
resolver
uniprot
A0A0A0MQR4
resolver
uniprot
A0A7P0T9K5
resolver
uniprot
I3L2J0
resolver
uniprot
Q7LGI1
resolver
uniprot
Q9UEG5
resolver
uniprot
Q9Y6T1
resolver
uniprot_entry
A0A0A0MQR4_HUMAN
resolver
uniprot_entry
CIC_HUMAN
resolver
uniprot_entry
I3L2J0_HUMAN
resolver
uniprot_sec
A0A7P0T9K5
resolver
uniprot_sec
Q7LGI1
resolver
uniprot_sec
Q9UEG5
resolver
uniprot_sec
Q9Y6T1
resolver
amino_acid_sequence
MKPMKKACTGLSGPGSGSKSPPATRAKALRRRGAGEGDKPEEEDDEAQQPQPQSGPEEAEEGEEEEAERGPGAEGPPLELHPGDPAPGPAEDPKGDGEAGRWEPSLSRKTATFKSRAPKKKYVEEHGAGSSGVAGAPEERVRTPEEASGLGVPPRPPTSTRSSSTDTASEHSADLEDEPAEACGPGPWPPGSTSGSYDLRQLRSQRVLARRGDGLFLPAVVRQVRRSQDLGVQFPGDRALTFYEGVPGAGVDVVLDATPPPGALVVGTAVCTCVEPGVAAYREGVVVEVATKPAAYKVRLSPGPSSQPGLPGSLPQPPQPLHREPEEAVWVARSSLRLLRPPWEPETMLRKPPTGPEEEQAEPGATLPPCPAALDPKQPEDAEVSKISFGGNLGTHCEEGEEKHPPALGTPALLPLPPPQLLSPPPKSPAFVGPGRPGEQPSPCQEGSQGGSRSSSVASLEKGTAPAARARTPLTAAQQKYKKGDVVCTPSGIRKKFNGKQWRRLCSRDGCMKESQRRGYCSRHLSMRTKEMEGLADSGPGGAGRPAAVAAREGSTEFDWGDETSRDSEASSVAARGDSRPRLVAPADLSRFEFDECEAAVMLVSLGSSRSGTPSFSPVSTQSPFSPAPSPSPSPLFGFRPANFSPINASPVIQRTAVRSRHLSASTPKAGVLTPPDLGPHPPPPAPRERHSSGILPTFQTNLTFTVPISPGRRKTELLPHPGALGAPGAGGGGAAPDFPKSDSLDSGVDSVSHTPTPSTPAGFRAVSPAVPFSRSRQPSPLLLLPPPAGLTSDPGPSVRRVPAVQRDSPVIVRNPDVPLPSKFPGEVGTAGEVRAGGPGRGCRETPVPPGVASGKPGLPPPLPAPVPITVPPAAPTAVAQPMPAFGLASSPFQPVAFHPSPAALLPVLVPSSYTSHPAPKKEVIMGRPGTVWTNVEPRSVAVFPWHSLVPFLAPSQPDPSVQPSEAQQPASHPVASNQSKEPAESAAVAHERPPGGTGSADPERPPGATCPESPGPGPPHPLGVVESGKGPPPTTEEEASGPPGEPRLDSETESDHDDAFLSIMSPEIQLPLPPGKRRTQSLSALPKERDSSSEKDGRSPNKREKDHIRRPMNAFMIFSKRHRALVHQRHPNQDNRTVSKILGEWWYALGPKEKQKYHDLAFQVKEAHFKAHPDWKWCNKDRKKSSSEAKPTSLGLAGGHKETRERSMSETGTAAAPGVSSELLSVAAQTLLSSDTKAPGSSSCGAERLHTVGGPGSARPRAFSHSGVHSLDGGEVDSQALQELTQMVSGPASYSGPKPSTQYGAPGPFAAPGEGGALAATGRPPLLPTRASRSQRAASEDMTSDEERMVICEEEGDDDVIADDGFGTTDIDLKCKERVTDSESGDSSGEDPEGNKGFGRKVFSPVIRSSFTHCRPPLDPEPPGPPDPPVAFGKGYGSAPSSSASSPASSSASAATSFSLGSGTFKAQESGQGSTAGPLRPPPPGAGGPATPSKATRFLPMDPATFRRKRPESVGGLEPPGPSVIAAPPSGGGNILQTLVLPPNKEEQEGGGARVPSAPAPSLAYGAPAAPLSRPAATMVTNVVRPVSSTPVPIASKPFPTSGRAEASPNDTAGARTEMGTGSRVPGGSPLGVSLVYSDKKSAAATSPAPHLVAGPLLGTVGKAPATVTNLLVGTPGYGAPAPPAVQFIAQGAPGGGTTAGSGAGAGSGPNGPVPLGILQPGALGKAGGITQVQYILPTLPQQLQVAPAPAPAPGTKAAAPSGPAPTTSIRFTLPPGTSTNGKVLAATAPTPGIPILQSVPSAPPPKAQSVSPVQAPPPGGSAQLLPGKVLVPLAAPSMSVRGGGAGQPLPLVSPPFSVPVQNGAQPPSKIIQLTPVPVSTPSGLVPPLSPATLPGPTSQPQKVLLPSSTRITYVQSAGGHALPLGTSPASSQAGTVTSYGPTSSVALGFTSLGPSGPAFVQPLLSAGQAPLLAPGQVGVSPVPSPQLPPACAAPGGPVITAFYSGSPAPTSSAPLAQPSQAPPSLVYTVATSTTPPAATILPKGPPAPATATPAPTSPFPSATAGSMTYSLVAPKAQRPSPKAPQKVKAAIASIPVGSFEAGASGRPGPAPRQPLEPGPVREPTAPESELEGQPTPPAPPPLPETWTPTARSSPPLPPPAEERTSAKGPETMASKFPSSSSDWRVPGQGLENRGEPPTPPSPAPAPAVAPGGSSESSSGRAAGDTPERKEAAGTGKKVKVRPPPLKKTFDSVDNRVLSEVDFEERFAELPEFRPEEVLPSPTLQSLATSPRAILGSYRKKRKNSTDLDSAPEDPTSPKRKMRRRSSCSSEPNTPKSAKCEGDIFTFDRTGTEAEDVLGELEYDKVPYSSLRRTLDQRRALVMQLFQDHGFFPSAQATAAFQARYADIFPSKVCLQLKIREVRQKIMQAATPTEQPPGAEAPLPVPPPTGTAAAPAPTPSPAGGPDPTSPSSDSGTAQAAPPLPPPPESGPGQPGWEGAPQPSPPPPGPSTAATGR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 45 (MRD45) [MIM:617600]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity. {ECO:0000269|PubMed:21076407, ECO:0000269|PubMed:28288114}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. {ECO:0000250|UniProtKB:Q924A2}.
uniprot
proteins
mass_dalton
258033
uniprot
proteins
pubmed
12393275
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15981098
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21076407
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28288114
uniprot
proteins
pubmed
30397230
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
2517
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
uniprot
proteins