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CIC capicua transcriptional repressor [ Homo sapiens (human) ]

Gene ID: 23152, updated on 28-Oct-2018

Summary

Official Symbol
CICprovided by HGNC
Official Full Name
capicua transcriptional repressorprovided by HGNC
Primary source
HGNC:HGNC:14214
See related
Ensembl:ENSG00000079432 MIM:612082; Vega:OTTHUMG00000182794
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRD45
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]
Expression
Ubiquitous expression in testis (RPKM 16.0), endometrium (RPKM 12.0) and 25 other tissues See more
Orthologs

Genomic context

See CIC in Genome Data Viewer
Location:
19q13.2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (42268537..42295796)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42788734..42799949)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glycogen synthase kinase 3 alpha Neighboring gene ETS2 repressor factor Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 3 Neighboring gene proline rich 19 Neighboring gene transmembrane protein 145

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MedGen: C4539848 OMIM: 617600 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-06-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-06-27)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0306

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
learning ISS
Inferred from Sequence or Structural Similarity
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
memory ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042060.1 RefSeqGene

    Range
    5001..32260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_999

mRNA and Protein(s)

  1. NM_001304815.1NP_001291744.1  protein capicua homolog isoform CIC-L

    See identical proteins and their annotated locations for NP_001291744.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (CIC-L, PMID:17190598).
    Source sequence(s)
    AC006486, AF363689, AK025939, BF848448
    UniProtKB/Swiss-Prot
    Q96RK0
    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  2. NM_015125.4NP_055940.3  protein capicua homolog isoform CIC-S

    See identical proteins and their annotated locations for NP_055940.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (CIC-S, PMID:17190598) has a distinct N-terminus and is shorter than isoform CIC-L.
    Source sequence(s)
    AC006486, AF363689, AK025939
    Consensus CDS
    CCDS12601.1
    UniProtKB/Swiss-Prot
    Q96RK0
    Related
    ENSP00000458663.2, OTTHUMP00000257463, ENST00000575354.6, OTTHUMT00000438532
    Conserved Domains (2) summary
    COG5648
    Location:171315
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:199270
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    42268537..42295796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526660.2XP_011524962.1  protein capicua homolog isoform X1

    See identical proteins and their annotated locations for XP_011524962.1

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  2. XM_011526665.2XP_011524967.1  protein capicua homolog isoform X7

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  3. XM_011526663.2XP_011524965.1  protein capicua homolog isoform X4

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  4. XM_011526666.2XP_011524968.1  protein capicua homolog isoform X9

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  5. XM_011526661.2XP_011524963.1  protein capicua homolog isoform X2

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  6. XM_024451433.1XP_024307201.1  protein capicua homolog isoform X8

    Conserved Domains (5) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam16090
    Location:252346
    DUF4819; Domain of unknown function (DUF4819)
    cl26464
    Location:17652184
    Atrophin-1; Atrophin-1 family
    cl28271
    Location:8711046
    dnaA; chromosomal replication initiation protein; Provisional
  7. XM_024451432.1XP_024307200.1  protein capicua homolog isoform X6

    Conserved Domains (5) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam16090
    Location:252346
    DUF4819; Domain of unknown function (DUF4819)
    cl26464
    Location:17652184
    Atrophin-1; Atrophin-1 family
    cl28271
    Location:8711046
    dnaA; chromosomal replication initiation protein; Provisional
  8. XM_011526662.2XP_011524964.1  protein capicua homolog isoform X3

    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  9. XM_011526664.2XP_011524966.1  protein capicua homolog isoform X5

    Related
    ENSP00000459719.1, OTTHUMP00000257460, ENST00000572681.6, OTTHUMT00000438528
    Conserved Domains (3) summary
    COG5648
    Location:10801224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  10. XM_011526667.2XP_011524969.1  protein capicua homolog isoform X10

    Conserved Domains (3) summary
    COG5648
    Location:10651224
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:11081179
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam16090
    Location:252349
    DUF4819; Domain of unknown function (DUF4819)
  11. XM_005258674.2XP_005258731.1  protein capicua homolog isoform X12

    Conserved Domains (2) summary
    COG5648
    Location:171315
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:199270
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
  12. XM_005258673.2XP_005258730.1  protein capicua homolog isoform X11

    UniProtKB/TrEMBL
    A0A0A0MQR4
    Related
    ENSP00000160740.3, OTTHUMP00000272743, ENST00000160740.7, OTTHUMT00000468598
    Conserved Domains (2) summary
    COG5648
    Location:171315
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:199270
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
  13. XM_005258675.2XP_005258732.1  protein capicua homolog isoform X13

    Conserved Domains (2) summary
    COG5648
    Location:171315
    NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
    cd01388
    Location:199270
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

RNA

  1. XR_002958286.1 RNA Sequence

  2. XR_002958287.1 RNA Sequence

  3. XR_002958288.1 RNA Sequence

  4. XR_002958289.1 RNA Sequence

  5. XR_002958290.1 RNA Sequence

  6. XR_935778.2 RNA Sequence

  7. XR_935779.2 RNA Sequence

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