LOCUS NP_001366414 1605 aa linear PRI 30-APR-2025
DEFINITION protein capicua homolog isoform 6 [Homo sapiens].
ACCESSION NP_001366414
VERSION NP_001366414.1
DBSOURCE REFSEQ: accession NM_001379485.1
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1605)
AUTHORS Makise,N. and Yoshida,A.
TITLE CIC-Rearranged Sarcoma
JOURNAL Surg Pathol Clin 17 (1), 141-151 (2024)
PUBMED 38278603
REMARK GeneRIF: CIC-Rearranged Sarcoma.
Review article
REFERENCE 2 (residues 1 to 1605)
AUTHORS Linos,K., Dermawan,J.K., Bale,T., Rosenblum,M.K., Singer,S.,
Tap,W., Dickson,M.A., Hornick,J.L. and Antonescu,C.R.
TITLE Expanding the Molecular Diversity of CIC-Rearranged Sarcomas With
Novel and Very Rare Partners
JOURNAL Mod Pathol 36 (5), 100103 (2023)
PUBMED 36788092
REMARK GeneRIF: Expanding the Molecular Diversity of CIC-Rearranged
Sarcomas With Novel and Very Rare Partners.
REFERENCE 3 (residues 1 to 1605)
AUTHORS Palmerini,E., Gambarotti,M., Italiano,A., Nathenson,M.J., Ratan,R.,
Dileo,P., Provenzano,S., Jones,R.L., DuBois,S.G., Martin-Broto,J.,
de Alava,E., Baldi,G.G., Grignani,G., Ferraresi,V., Brunello,A.,
Paoluzzi,L., Bertulli,R., Hindi,N., Montemurro,M., Rothermundt,C.,
Cocchi,S., Salguero-Aranda,C., Donati,D., Martin,J.D., Abdelhamid
Ahmed,A.H., Mazzocca,A., Carretta,E., Cesari,M., Pierini,M.,
Righi,A., Sbaraglia,M., Laginestra,M.A., Scotlandi,K., Dei
Tos,A.P., Ibrahim,T., Stacchiotti,S. and Vincenzi,B.
TITLE A global collaboRAtive study of CIC-rearranged,
BCOR::CCNB3-rearranged and other ultra-rare unclassified
undifferentiated small round cell sarcomas (GRACefUl)
JOURNAL Eur J Cancer 183, 11-23 (2023)
PUBMED 36791667
REMARK GeneRIF: A global collaboRAtive study of CIC-rearranged,
BCOR::CCNB3-rearranged and other ultra-rare unclassified
undifferentiated small round cell sarcomas (GRACefUl).
REFERENCE 4 (residues 1 to 1605)
AUTHORS Jimenez,G., Shvartsman,S.Y. and Paroush,Z.
TITLE The Capicua repressor--a general sensor of RTK signaling in
development and disease
JOURNAL J Cell Sci 125 (Pt 6), 1383-1391 (2012)
PUBMED 22526417
REMARK Review article
REFERENCE 5 (residues 1 to 1605)
AUTHORS Bettegowda,C., Agrawal,N., Jiao,Y., Sausen,M., Wood,L.D.,
Hruban,R.H., Rodriguez,F.J., Cahill,D.P., McLendon,R., Riggins,G.,
Velculescu,V.E., Oba-Shinjo,S.M., Marie,S.K., Vogelstein,B.,
Bigner,D., Yan,H., Papadopoulos,N. and Kinzler,K.W.
TITLE Mutations in CIC and FUBP1 contribute to human oligodendroglioma
JOURNAL Science 333 (6048), 1453-1455 (2011)
PUBMED 21817013
REMARK GeneRIF: CIC gene was mutated in 6 oligodendrogliomas and FUBP1
gene was mutated in 2; 27 additional oligodendrogliomas showed 12
and 3 more tumors with mutations of CIC and FUBP1; results suggest
role of these genes in biology and pathology of oligodendrocytes
REFERENCE 6 (residues 1 to 1605)
AUTHORS Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
TITLE A census of human transcription factors: function, expression and
evolution
JOURNAL Nat Rev Genet 10 (4), 252-263 (2009)
PUBMED 19274049
REMARK Review article
REFERENCE 7 (residues 1 to 1605)
AUTHORS Lim,J., Crespo-Barreto,J., Jafar-Nejad,P., Bowman,A.B., Richman,R.,
Hill,D.E., Orr,H.T. and Zoghbi,H.Y.
TITLE Opposing effects of polyglutamine expansion on native protein
complexes contribute to SCA1
JOURNAL Nature 452 (7188), 713-718 (2008)
PUBMED 18337722
REFERENCE 8 (residues 1 to 1605)
AUTHORS Lam,Y.C., Bowman,A.B., Jafar-Nejad,P., Lim,J., Richman,R.,
Fryer,J.D., Hyun,E.D., Duvick,L.A., Orr,H.T., Botas,J. and
Zoghbi,H.Y.
TITLE ATAXIN-1 interacts with the repressor Capicua in its native complex
to cause SCA1 neuropathology
JOURNAL Cell 127 (7), 1335-1347 (2006)
PUBMED 17190598
REFERENCE 9 (residues 1 to 1605)
AUTHORS Lee,C.J., Chan,W.I. and Scotting,P.J.
TITLE CIC, a gene involved in cerebellar development and ErbB signaling,
is significantly expressed in medulloblastomas
JOURNAL J Neurooncol 73 (2), 101-108 (2005)
PUBMED 15981098
REMARK GeneRIF: Medulloblastomas exhibited the highest level of CIC
expression, although the level of expression varied between
different medulloblastoma subtypes. Expression was most common in
tumors of the CNS in general.
REFERENCE 10 (residues 1 to 1605)
AUTHORS Lee,C.J., Chan,W.I., Cheung,M., Cheng,Y.C., Appleby,V.J., Orme,A.T.
and Scotting,P.J.
TITLE CIC, a member of a novel subfamily of the HMG-box superfamily, is
transiently expressed in developing granule neurons
JOURNAL Brain Res Mol Brain Res 106 (1-2), 151-156 (2002)
PUBMED 12393275
REMARK GeneRIF: Results describe the identification and characterization
of a new gene, Cic, in both human and mouse genomes, that is
implicated in granule cell development.
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC006486.1.
Summary: The protein encoded by this gene is an ortholog of the
Drosophila melanogaster capicua gene, and is a member of the high
mobility group (HMG)-box superfamily of transcriptional repressors.
This protein contains a conserved HMG domain that is involved in
DNA binding and nuclear localization, and a conserved C-terminus.
Studies suggest that the N-terminal region of this protein
interacts with Atxn1 (GeneID:6310), to form a transcription
repressor complex, and in vitro studies suggest that
polyglutamine-expansion of ATXN1 may alter the repressor activity
of this complex. Mutations in this gene have been associated with
olidogdendrogliomas (PMID:21817013). In addition, translocation
events resulting in gene fusions of this gene with both DUX4
(GeneID:100288687) and FOXO4 (GeneID:4303) have been associated
with round cell sarcomas. There are multiple pseudogenes of this
gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome.
Alternative splicing results in multiple transcript variants
encoding different isoforms. [provided by RefSeq, Feb 2015].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR9304715.734119.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1605
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.2"
Protein 1..1605
/product="protein capicua homolog isoform 6"
/note="protein capicua homolog"
/calculated_mol_wt=163389
Region 199..276
/region_name="HMG-box_CIC-like"
/note="high mobility group (HMG)-box found in protein
capicua (CIC) and similar proteins; cd21990"
/db_xref="CDD:438806"
Site order(201..202,204..205,207..208,212,215,226..228,
231..232,238,257,268..272)
/site_type="DNA binding"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:438806"
Region <856..1276
/region_name="PHA03247"
/note="large tegument protein UL36; Provisional"
/db_xref="CDD:223021"
CDS 1..1605
/gene="CIC"
/gene_synonym="MRD45"
/coded_by="NM_001379485.1:237..5054"
/note="isoform 6 is encoded by transcript variant 6"
/db_xref="GeneID:23152"
/db_xref="HGNC:HGNC:14214"
/db_xref="MIM:612082"
ORIGIN
1 mysahrplmp assaasrglg mfvwtnvepr svavfpwhsl vpflapsqpd psvqpseaqq
61 pashpvasnq skepaesaav aherppggtg sadperppga tcpespgpgp phplgvvesg
121 kgppptteee asgppgeprl dsetesdhdd aflsimspei qlplppgkrr tqslsalpke
181 rdsssekdgr spnkrekdhi rrpmnafmif skrhralvhq rhpnqdnrtv skilgewwya
241 lgpkekqkyh dlafqvkeah fkahpdwkwc nkdrkkssse akptslglag ghketrersm
301 setgtaaapg vssellsvaa qtllssdtka pgssscgaer lhtvggpgsa rprafshsgv
361 hsldggevds qalqeltqmv sgpasysgpk pstqygapgp faapgeggal aatgrppllp
421 trasrsqraa sedmtsdeer mviceeegdd dviaddgfgt tdidlkcker vtdsesgdss
481 gedpegnkgf grkvfspvir ssfthcrppl dpeppgppdp pvafgkgygs apsssasspa
541 sssasaatsf slgsgtfkaq esgqgstagp lrppppgagg patpskatrf lpmdpatfrr
601 krpesvggle ppgpsviaap psgggnilqt lvlppnkeeq egggarvpsa papslaygap
661 aaplsrpaat mvtnvvrpvs stpvpiaskp fptsgraeas pndtagarte mgtgsrvpgg
721 splgvslvys dkksaaatsp aphlvagpll gtvgkapatv tnllvgtpgy gapappavqf
781 iaqgapgggt tagsgagags gpngpvplgi lqpgalgkag gitqvqyilp tlpqqlqvap
841 apapapgtka aapsgpaptt sirftlppgt stngkvlaat aptpgipilq svpsapppka
901 qsvspvqapp pggsaqllpg kvlvplaaps msvrgggagq plplvsppfs vpvqngaqpp
961 skiiqltpvp vstpsglvpp lspatlpgpt sqpqkvllps strityvqsa gghalplgts
1021 passqagtvt sygptssval gftslgpsgp afvqpllsag qapllapgqv gvspvpspql
1081 ppacaapggp vitafysgsp aptssaplaq psqappslvy tvatsttppa atilpkgppa
1141 patatpapts pfpsatagsm tyslvapkaq rpspkapqkv kaaiasipvg sfeagasgrp
1201 gpaprqplep gpvreptape selegqptpp appplpetwt ptarsspplp ppaeertsak
1261 gpetmaskfp ssssdwrvpg qglenrgepp tppspapapa vapggssess sgraagdtpe
1321 rkeaagtgkk vkvrppplkk tfdsvdkvls evdfeerfae lpefrpeevl psptlqslat
1381 sprailgsyr kkrknstdld sapedptspk rkmrrrsscs sepntpksak cegdiftfdr
1441 teaedvlgel eydkvpyssl rrtldqrral vmqlfqdhgf fpsaqataaf qaryadifps
1501 kvclqlkire vrqkimqaat pteqppgaea plpvppptgt aaapaptpsp aggpdptsps
1561 sdsgtaqaap plppppesgp gqpgwegapq psppppgpst aatgr
//
