Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 160 (31 Jul 2019)
Sequence version 2 (17 Oct 2006)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Protein capicua homolog

Gene

CIC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.By similarity

Miscellaneous

Expressed in medulloblastoma, a pediatric brain tumor which may arise from the granule cell lineage.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi200 – 268HMG boxPROSITE-ProRule annotationAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q96RK0

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96RK0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein capicua homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CIC
Synonyms:KIAA0306
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14214 CIC

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612082 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96RK0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 45 (MRD45)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079294353 – 1608Missing in MRD45; decreased protein expression. 1 PublicationAdd BLAST1256
Natural variantiVAR_065090492R → W in MRD45; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373584239EnsemblClinVar.1
Natural variantiVAR_079295992 – 1608Missing in MRD45. 1 PublicationAdd BLAST617

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23152

MalaCards human disease database

More...
MalaCardsi
CIC
MIMi617600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000079432

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26513

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CIC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241300

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000485981 – 1608Protein capicua homologAdd BLAST1608

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei146PhosphoserineBy similarity1
Modified residuei173PhosphoserineCombined sources1
Modified residuei190Omega-N-methylarginineBy similarity1
Modified residuei277PhosphoserineCombined sources1
Modified residuei362PhosphoserineCombined sources1
Modified residuei431PhosphoserineBy similarity1
Modified residuei436PhosphoserineBy similarity1
Modified residuei496PhosphoserineBy similarity1
Modified residuei700PhosphoserineCombined sources1
Modified residuei721PhosphoserineCombined sources1
Modified residuei739PhosphoserineCombined sources1
Modified residuei863Asymmetric dimethylarginineCombined sources1
Modified residuei934Omega-N-methylarginineBy similarity1
Modified residuei1268N6-acetyllysineBy similarity1
Modified residuei1291PhosphothreonineBy similarity1
Modified residuei1294PhosphoserineCombined sources1
Modified residuei1351PhosphoserineCombined sources1
Modified residuei1373PhosphoserineCombined sources1
Modified residuei1378PhosphoserineCombined sources1
Modified residuei1382PhosphoserineCombined sources1
Modified residuei1389PhosphoserineCombined sources1
Modified residuei1397PhosphoserineCombined sources1
Modified residuei1398PhosphothreonineCombined sources1
Modified residuei1402PhosphoserineCombined sources1
Modified residuei1409PhosphoserineCombined sources1
Modified residuei1595PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-1346

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96RK0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96RK0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96RK0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96RK0

PeptideAtlas

More...
PeptideAtlasi
Q96RK0

PRoteomics IDEntifications database

More...
PRIDEi
Q96RK0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77973

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96RK0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96RK0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000079432 Expressed in 219 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96RK0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96RK0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB026388
HPA044341
HPA064725

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ATXN1 and ATXN1L.

Found in a complex with ATXN1 and ATXN1L.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116767, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q96RK0

Database of interacting proteins

More...
DIPi
DIP-49964N

Protein interaction database and analysis system

More...
IntActi
Q96RK0, 19 interactors

Molecular INTeraction database

More...
MINTi
Q96RK0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000458663

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11608
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96RK0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni28 – 46Interaction with ATXN1By similarityAdd BLAST19

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi42 – 138Pro-richAdd BLAST97
Compositional biasi508 – 1303Pro-richAdd BLAST796
Compositional biasi1524 – 1601Pro-richAdd BLAST78

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ITBG Eukaryota
ENOG4111S7E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159960

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96RK0

KEGG Orthology (KO)

More...
KOi
K20225

Database of Orthologous Groups

More...
OrthoDBi
14207at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96RK0

TreeFam database of animal gene trees

More...
TreeFami
TF323412

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00505 HMG_box, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47095 SSF47095, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

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

PSTAATGR
Length:1,608
Mass (Da):163,820
Last modified:October 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i355603C8BD67244E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQR4A0A0A0MQR4_HUMAN
Protein capicua homolog
CIC
1,606Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2J0I3L2J0_HUMAN
Protein capicua homolog
CIC
2,514Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1Q4I3L1Q4_HUMAN
Protein capicua homolog
CIC
320Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L373I3L373_HUMAN
Protein capicua homolog
CIC
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L135I3L135_HUMAN
Protein capicua homolog
CIC
309Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2I4I3L2I4_HUMAN
Protein capicua homolog
CIC
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD11988 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035936104E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_079294353 – 1608Missing in MRD45; decreased protein expression. 1 PublicationAdd BLAST1256
Natural variantiVAR_081527492 – 1608Missing Probable-disease associated mutation found in a patient with Snijders Blok-Campeau syndrome; the patient also carries a likely pathogenic variant in CHD3; both variants may contribute to disease phenotype. 1 PublicationAdd BLAST1117
Natural variantiVAR_065090492R → W in MRD45; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373584239EnsemblClinVar.1
Natural variantiVAR_035937652A → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs770323488Ensembl.1
Natural variantiVAR_028302982S → G2 PublicationsCorresponds to variant dbSNP:rs17339472Ensembl.1
Natural variantiVAR_079295992 – 1608Missing in MRD45. 1 PublicationAdd BLAST617

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF363689 mRNA Translation: AAK73515.1
AC006486 Genomic DNA Translation: AAD11988.1 Sequence problems.
AB002304 mRNA Translation: BAA20765.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12601.1

NCBI Reference Sequences

More...
RefSeqi
NP_001291744.1, NM_001304815.1
NP_055940.3, NM_015125.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000575354; ENSP00000458663; ENSG00000079432

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23152

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23152

UCSC genome browser

More...
UCSCi
uc002otf.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF363689 mRNA Translation: AAK73515.1
AC006486 Genomic DNA Translation: AAD11988.1 Sequence problems.
AB002304 mRNA Translation: BAA20765.1
CCDSiCCDS12601.1
RefSeqiNP_001291744.1, NM_001304815.1
NP_055940.3, NM_015125.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M41NMR-A34-48[»]
4J2JX-ray2.50D/E/F28-48[»]
4J2LX-ray3.15C/D21-48[»]
SMRiQ96RK0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116767, 22 interactors
CORUMiQ96RK0
DIPiDIP-49964N
IntActiQ96RK0, 19 interactors
MINTiQ96RK0
STRINGi9606.ENSP00000458663

PTM databases

iPTMnetiQ96RK0
PhosphoSitePlusiQ96RK0

Polymorphism and mutation databases

BioMutaiCIC
DMDMi116241300

Proteomic databases

CPTACiCPTAC-1346
EPDiQ96RK0
jPOSTiQ96RK0
MaxQBiQ96RK0
PaxDbiQ96RK0
PeptideAtlasiQ96RK0
PRIDEiQ96RK0
ProteomicsDBi77973

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23152
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000575354; ENSP00000458663; ENSG00000079432
GeneIDi23152
KEGGihsa:23152
UCSCiuc002otf.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23152
DisGeNETi23152

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CIC
HGNCiHGNC:14214 CIC
HPAiCAB026388
HPA044341
HPA064725
MalaCardsiCIC
MIMi612082 gene
617600 phenotype
neXtProtiNX_Q96RK0
OpenTargetsiENSG00000079432
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA26513

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITBG Eukaryota
ENOG4111S7E LUCA
GeneTreeiENSGT00940000159960
InParanoidiQ96RK0
KOiK20225
OrthoDBi14207at2759
PhylomeDBiQ96RK0
TreeFamiTF323412

Enzyme and pathway databases

SignaLinkiQ96RK0
SIGNORiQ96RK0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CIC human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CIC_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23152

Protein Ontology

More...
PROi
PR:Q96RK0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000079432 Expressed in 219 organ(s), highest expression level in right testis
ExpressionAtlasiQ96RK0 baseline and differential
GenevisibleiQ96RK0 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCIC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96RK0
Secondary accession number(s): Q7LGI1, Q9UEG5, Q9Y6T1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: October 17, 2006
Last modified: July 31, 2019
This is version 160 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again