Q96RK0 (CIC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein capicua homolog

Gene names

Name:	CIC
Synonyms:	KIAA0306

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1608 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional repressor which may play a role in development of the central nervous system (CNS). Ref.1
Subunit structure	Interacts with ATXN1 and ATXN1L By similarity.
Subcellular location	Nucleus Potential.
Tissue specificity	Expressed in fetal brain. Ref.5
Miscellaneous	Expressed in medulloblastoma, a pediatric brain tumor which may arise from the granule cell lineage.
Sequence similarities	Contains 1 HMG box DNA-binding domain.
Sequence caution	The sequence AAD11988.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ATXN1	P54253	5	EBI-945857,EBI-930964
CENPJ	Q9HC77	2	EBI-945857,EBI-946194

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1608	1608	Protein capicua homolog		PRO_0000048598
Regions
	DNA binding	200 – 268	69	HMG box
	Region	28 – 46	19	Interaction with ATXN1 By similarity
	Compositional bias	42 – 138	97	Pro-rich
	Compositional bias	508 – 1303	796	Pro-rich
	Compositional bias	1524 – 1601	78	Pro-rich
Amino acid modifications
	Modified residue	142	1	Phosphoserine Ref.9
	Modified residue	146	1	Phosphoserine Ref.9
	Modified residue	173	1	Phosphoserine Ref.8
	Modified residue	279	1	Phosphoserine Ref.6
	Modified residue	496	1	Phosphoserine Ref.8
	Modified residue	721	1	Phosphoserine Ref.8 Ref.9
	Modified residue	904	1	Phosphoserine By similarity
	Modified residue	1291	1	Phosphothreonine Ref.9
	Modified residue	1294	1	Phosphoserine Ref.9
	Modified residue	1373	1	Phosphoserine Ref.7 Ref.8 Ref.9
	Modified residue	1378	1	Phosphoserine Ref.7
	Modified residue	1382	1	Phosphoserine Ref.7 Ref.8 Ref.9
	Modified residue	1397	1	Phosphoserine Ref.4 Ref.9
	Modified residue	1402	1	Phosphoserine Ref.9
	Modified residue	1409	1	Phosphoserine Ref.4 Ref.9
	Modified residue	1462	1	Phosphoserine Ref.6
Natural variations
	Natural variant	104	1	E → K in a breast cancer sample; somatic mutation. Ref.10		VAR_035936
	Natural variant	492	1	R → W De novo variant found in a patient with mental retardation. Ref.11		VAR_065090
	Natural variant	652	1	A → T in a breast cancer sample; somatic mutation. Ref.10		VAR_035937
	Natural variant	982	1	S → G. Ref.1 Ref.3 Corresponds to variant rs17339472 [ dbSNP | Ensembl ].		VAR_028302

Sequences

	Sequence		Length	Mass (Da)
	Q96RK0 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 355603C8BD67244E	FASTA	1,608	163,820
	10 20 30 40 50 60 MYSAHRPLMP ASSAASRGLG MFVWTNVEPR SVAVFPWHSL VPFLAPSQPD PSVQPSEAQQ 70 80 90 100 110 120 PASHPVASNQ SKEPAESAAV AHERPPGGTG SADPERPPGA TCPESPGPGP PHPLGVVESG 130 140 150 160 170 180 KGPPPTTEEE ASGPPGEPRL DSETESDHDD AFLSIMSPEI QLPLPPGKRR TQSLSALPKE 190 200 210 220 230 240 RDSSSEKDGR SPNKREKDHI RRPMNAFMIF SKRHRALVHQ RHPNQDNRTV SKILGEWWYA 250 260 270 280 290 300 LGPKEKQKYH DLAFQVKEAH FKAHPDWKWC NKDRKKSSSE AKPTSLGLAG GHKETRERSM 310 320 330 340 350 360 SETGTAAAPG VSSELLSVAA QTLLSSDTKA PGSSSCGAER LHTVGGPGSA RPRAFSHSGV 370 380 390 400 410 420 HSLDGGEVDS QALQELTQMV SGPASYSGPK PSTQYGAPGP FAAPGEGGAL AATGRPPLLP 430 440 450 460 470 480 TRASRSQRAA SEDMTSDEER MVICEEEGDD DVIADDGFGT TDIDLKCKER VTDSESGDSS 490 500 510 520 530 540 GEDPEGNKGF GRKVFSPVIR SSFTHCRPPL DPEPPGPPDP PVAFGKGYGS APSSSASSPA 550 560 570 580 590 600 SSSASAATSF SLGSGTFKAQ ESGQGSTAGP LRPPPPGAGG PATPSKATRF LPMDPATFRR 610 620 630 640 650 660 KRPESVGGLE PPGPSVIAAP PSGGGNILQT LVLPPNKEEQ EGGGARVPSA PAPSLAYGAP 670 680 690 700 710 720 AAPLSRPAAT MVTNVVRPVS STPVPIASKP FPTSGRAEAS PNDTAGARTE MGTGSRVPGG 730 740 750 760 770 780 SPLGVSLVYS DKKSAAATSP APHLVAGPLL GTVGKAPATV TNLLVGTPGY GAPAPPAVQF 790 800 810 820 830 840 IAQGAPGGGT TAGSGAGAGS GPNGPVPLGI LQPGALGKAG GITQVQYILP TLPQQLQVAP 850 860 870 880 890 900 APAPAPGTKA AAPSGPAPTT SIRFTLPPGT STNGKVLAAT APTPGIPILQ SVPSAPPPKA 910 920 930 940 950 960 QSVSPVQAPP PGGSAQLLPG KVLVPLAAPS MSVRGGGAGQ PLPLVSPPFS VPVQNGAQPP 970 980 990 1000 1010 1020 SKIIQLTPVP VSTPSGLVPP LSPATLPGPT SQPQKVLLPS STRITYVQSA GGHALPLGTS 1030 1040 1050 1060 1070 1080 PASSQAGTVT SYGPTSSVAL GFTSLGPSGP AFVQPLLSAG QAPLLAPGQV GVSPVPSPQL 1090 1100 1110 1120 1130 1140 PPACAAPGGP VITAFYSGSP APTSSAPLAQ PSQAPPSLVY TVATSTTPPA ATILPKGPPA 1150 1160 1170 1180 1190 1200 PATATPAPTS PFPSATAGSM TYSLVAPKAQ RPSPKAPQKV KAAIASIPVG SFEAGASGRP 1210 1220 1230 1240 1250 1260 GPAPRQPLEP GPVREPTAPE SELEGQPTPP APPPLPETWT PTARSSPPLP PPAEERTSAK 1270 1280 1290 1300 1310 1320 GPETMASKFP SSSSDWRVPG QGLENRGEPP TPPSPAPAPA VAPGGSSESS SGRAAGDTPE 1330 1340 1350 1360 1370 1380 RKEAAGTGKK VKVRPPPLKK TFDSVDNRVL SEVDFEERFA ELPEFRPEEV LPSPTLQSLA 1390 1400 1410 1420 1430 1440 TSPRAILGSY RKKRKNSTDL DSAPEDPTSP KRKMRRRSSC SSEPNTPKSA KCEGDIFTFD 1450 1460 1470 1480 1490 1500 RTGTEAEDVL GELEYDKVPY SSLRRTLDQR RALVMQLFQD HGFFPSAQAT AAFQARYADI 1510 1520 1530 1540 1550 1560 FPSKVCLQLK IREVRQKIMQ AATPTEQPPG AEAPLPVPPP TGTAAAPAPT PSPAGGPDPT 1570 1580 1590 1600 SPSSDSGTAQ AAPPLPPPPE SGPGQPGWEG APQPSPPPPG PSTAATGR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons." Lee C.-J., Chan W.-I., Cheung M., Cheng Y.-C., Appleby V.J., Orme A.T., Scotting P.J. Brain Res. Mol. Brain Res. 106:151-156(2002) [PubMed: 12393275] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION, VARIANT GLY-982.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-1608, VARIANT GLY-982. Tissue: Brain.
[4]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1397 AND SER-1409, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas." Lee C.-J., Chan W.-I., Scotting P.J. J. Neurooncol. 73:101-108(2005) [PubMed: 15981098] [Abstract] Cited for: TISSUE SPECIFICITY, EXPRESSION IN MEDULLOBLASTOMA.
[6]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-279 AND SER-1462, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1373; SER-1378 AND SER-1382, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-173; SER-496; SER-721; SER-1373 AND SER-1382, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-142; SER-146; SER-721; THR-1291; SER-1294; SER-1373; SER-1382; SER-1397; SER-1402 AND SER-1409, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-104 AND THR-652.
[11]	"A de novo paradigm for mental retardation." Vissers L.E., de Ligt J., Gilissen C., Janssen I., Steehouwer M., de Vries P., van Lier B., Arts P., Wieskamp N., del Rosario M., van Bon B.W., Hoischen A., de Vries B.B., Brunner H.G., Veltman J.A. Nat. Genet. 42:1109-1112(2010) [PubMed: 21076407] [Abstract] Cited for: VARIANT TRP-492.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF363689 mRNA. Translation: AAK73515.1. AC006486 Genomic DNA. Translation: AAD11988.1. Sequence problems. AB002304 mRNA. Translation: BAA20765.1.
IPI	IPI00045360.
RefSeq	NP_055940.3. NM_015125.3.
UniGene	Hs.388236.
3D structure databases
ProteinModelPortal	Q96RK0.
SMR	Q96RK0. Positions 196-270.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96RK0. 13 interactions.
MINT	MINT-2856152.
STRING	Q96RK0.
PTM databases
PhosphoSite	Q96RK0.
Polymorphism databases
DMDM	116241300.
Proteomic databases
PRIDE	Q96RK0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000160740; ENSP00000160740; ENSG00000079432.
GeneID	23152.
KEGG	hsa:23152.
NMPDR	fig|9606.3.peg.16553.
UCSC	uc002otf.1. human.
Organism-specific databases
CTD	23152.
GeneCards	GC19P042788.
H-InvDB	HIX0015175.
HGNC	HGNC:14214. CIC.
HPA	CAB026388.
MIM	612082. gene.
neXtProt	NX_Q96RK0.
PharmGKB	PA26513.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19104.
GeneTree	ENSGT00530000063757.
HOVERGEN	HBG081174.
InParanoid	Q96RK0.
OMA	HREPEEA.
PhylomeDB	Q96RK0.
Gene expression databases
ArrayExpress	Q96RK0.
Bgee	Q96RK0.
CleanEx	HS_CIC.
Genevestigator	Q96RK0.
GermOnline	ENSG00000079432. Homo sapiens.
Family and domain databases
InterPro	IPR000910. HMG_HMG1/HMG2. IPR009071. HMG_superfamily. [Graphical view]
Gene3D	G3DSA:1.10.30.10. HMG-box. 1 hit.
Pfam	PF00505. HMG_box. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	44481.
SOURCE	Search...

Entry information

Entry name

CIC_HUMAN

Accession

Primary (citable) accession number: Q96RK0
Secondary accession number(s): Q7LGI1, Q9UEG5, Q9Y6T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 27, 2005
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 91 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.