Aliases for CCAR1 Gene

Aliases for CCAR1 Gene

  • Cell Division Cycle And Apoptosis Regulator 1 2 3 5
  • Cell Division Cycle And Apoptosis Regulator Protein 1 3 4
  • Cell Cycle And Apoptosis Regulatory Protein 1 3 4
  • Death Inducer With SAP Domain 3 4
  • CARP-1 4
  • CARP1 4
  • DIS 4

External Ids for CCAR1 Gene

Previous GeneCards Identifiers for CCAR1 Gene

  • GC10P069826
  • GC10P070150
  • GC10P070480
  • GC10P064482

Summaries for CCAR1 Gene

GeneCards Summary for CCAR1 Gene

CCAR1 (Cell Division Cycle And Apoptosis Regulator 1) is a Protein Coding gene. Diseases associated with CCAR1 include Gingival Disease and Prostate Cancer. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nuclear receptor transcription coactivator activity. An important paralog of this gene is CCAR2.

UniProtKB/Swiss-Prot Summary for CCAR1 Gene

  • Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938).

Gene Wiki entry for CCAR1 Gene

Additional gene information for CCAR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCAR1 Gene

Genomics for CCAR1 Gene

GeneHancer (GH) Regulatory Elements for CCAR1 Gene

Promoters and enhancers for CCAR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J068720 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 526.4 +0.6 589 3.2 HNRNPK ZNF217 EP300 SIN3A TCF12 NRF1 USF1 POLR2G GTF2E2 PHF8 CCAR1 DDX50 STOX1 RPL12P8 SIRT1 KIFBP DDX21 HERC4 RPL26P27 HNRNPH3
GH10J069179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 38.5 +459.6 459641 3.3 EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 POLR2G USF1 SUPV3L1 DDX50 CCAR1 DDX21 SAR1A HNRNPH3 VPS26A HKDC1 RPL26P27 TYSND1
GH10J069303 Enhancer 0.8 Ensembl 65.9 +582.8 582789 0.8 RBAK ZNF623 ZNF510 KLF7 ZEB1 MYNN NFIC ZBTB11 ZNF426 FOSL1 CCAR1 DDX50 HNRNPH3 SAR1A TYSND1 VPS26A KIFBP RUFY2 SUPV3L1 NPFFR1
GH10J068559 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.6 -159.2 -159161 4.3 EP300 HNRNPK ZNF217 ZSCAN5C NRF1 USF1 POLR2G SP1 NCOR1 BCLAF1 TET1 CCAR1 DNA2 DDX50 HERC4 HNRNPH3 SIRT1 ATOH7 piR-50443-044
GH10J068071 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.7 -647.4 -647412 5.2 HNRNPK ZBTB40 EP300 SIN3A NRF1 POLR2G GTF2E2 PHF8 TEAD4 ZFX HERC4 lnc-ATOH7-3 SIRT1 DDX50 CCAR1 HNRNPH3 RPL12P8 RPL26P27 DDX21 ENSG00000221184
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCAR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCAR1

Top Transcription factor binding sites by QIAGEN in the CCAR1 gene promoter:
  • ATF6
  • GR
  • GR-alpha
  • GR-beta
  • N-Myc
  • POU2F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • SRY

Genomic Locations for CCAR1 Gene

Genomic Locations for CCAR1 Gene
chr10:68,721,012-68,792,377
(GRCh38/hg38)
Size:
71,366 bases
Orientation:
Plus strand
chr10:70,480,769-70,552,134
(GRCh37/hg19)
Size:
71,366 bases
Orientation:
Plus strand

Genomic View for CCAR1 Gene

Genes around CCAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCAR1 Gene

Proteins for CCAR1 Gene

  • Protein details for CCAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IX12-CCAR1_HUMAN
    Recommended name:
    Cell division cycle and apoptosis regulator protein 1
    Protein Accession:
    Q8IX12
    Secondary Accessions:
    • A0JLT7
    • A1L4P7
    • A8K9D4
    • B4DNP8
    • B4DRK8
    • Q32NE3
    • Q5EBM3
    • Q5VUP6
    • Q6PIZ0
    • Q6X935
    • Q9H8N4
    • Q9NVA7
    • Q9NVQ0
    • Q9NWM6

    Protein attributes for CCAR1 Gene

    Size:
    1150 amino acids
    Molecular mass:
    132821 Da
    Quaternary structure:
    • Directly interacts with ESR1, NR3C1 and p53/TP53 (By similarity). Interacts (via N-terminus) with CALCOCO1. Interacts with MED1 (By similarity). Interacts with GATA1. Interacts with AR and GATA2.
    SequenceCaution:
    • Sequence=AAH26036.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI08683.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91354.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCAR1 Gene

Post-translational modifications for CCAR1 Gene

  • Ubiquitination at Lys368, Lys486, Lys637, Lys1054, and Lys1088
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCAR1 Gene

Domains & Families for CCAR1 Gene

Gene Families for CCAR1 Gene

Protein Domains for CCAR1 Gene

Suggested Antigen Peptide Sequences for CCAR1 Gene

GenScript: Design optimal peptide antigens:
  • Death inducer with SAP domain (CCAR1_HUMAN)
genes like me logo Genes that share domains with CCAR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCAR1 Gene

Function for CCAR1 Gene

Molecular function for CCAR1 Gene

UniProtKB/Swiss-Prot Function:
Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938).

Phenotypes From GWAS Catalog for CCAR1 Gene

Gene Ontology (GO) - Molecular Function for CCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 24245781
GO:0003713 transcription coactivator activity IMP 23887938
GO:0003714 transcription corepressor activity IMP 23887938
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 18157088
genes like me logo Genes that share ontologies with CCAR1: view
genes like me logo Genes that share phenotypes with CCAR1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCAR1 Gene

Localization for CCAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCAR1 Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCAR1 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with CCAR1: view

Pathways & Interactions for CCAR1 Gene

genes like me logo Genes that share pathways with CCAR1: view

Pathways by source for CCAR1 Gene

Gene Ontology (GO) - Biological Process for CCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006355 regulation of transcription, DNA-templated IEA,IBA 21873635
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0008284 positive regulation of cell proliferation IMP 23887938
genes like me logo Genes that share ontologies with CCAR1: view

No data available for SIGNOR curated interactions for CCAR1 Gene

Drugs & Compounds for CCAR1 Gene

No Compound Related Data Available

Transcripts for CCAR1 Gene

mRNA/cDNA for CCAR1 Gene

3 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCAR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a ·
SP1: -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6: -
SP7:
SP8: - -
SP9:
SP10:
SP11:

ExUns: 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for CCAR1 Gene

GeneLoc Exon Structure for
CCAR1

Expression for CCAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCAR1 Gene

Protein differential expression in normal tissues from HIPED for CCAR1 Gene

This gene is overexpressed in Lymph node (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCAR1 Gene



Protein tissue co-expression partners for CCAR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCAR1

SOURCE GeneReport for Unigene cluster for CCAR1 Gene:

Hs.49853

mRNA Expression by UniProt/SwissProt for CCAR1 Gene:

Q8IX12-CCAR1_HUMAN
Tissue specificity: Expressed in various epithelial cancer cell lines, including breast, colon, prostate, pancreatic and leukemia. Expression is regulated by growth factors.

Evidence on tissue expression from TISSUES for CCAR1 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Muscle(4.5)
  • Skin(4.5)
  • Liver(4.4)
  • Heart(2.6)
  • Blood(2.5)
  • Intestine(2.5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with CCAR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCAR1 Gene

Orthologs for CCAR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCAR1 31 30
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 99 (a)
OneToMany
CCAR1 31 30
  • 94.14 (n)
OneToMany
dog
(Canis familiaris)
Mammalia CCAR1 31 30
  • 94.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCAR1 31
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ccar1 17 31 30
  • 90.58 (n)
rat
(Rattus norvegicus)
Mammalia Ccar1 30
  • 90.24 (n)
chicken
(Gallus gallus)
Aves CCAR1 31 30
  • 82.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCAR1 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccar1 30
  • 77.06 (n)
Str.7672 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.30247 30
zebrafish
(Danio rerio)
Actinopterygii ccar1 31
  • 66 (a)
OneToOne
LOC568087 30
  • 65.82 (n)
worm
(Caenorhabditis elegans)
Secernentea lst-3 31
  • 26 (a)
OneToMany
Species where no ortholog for CCAR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCAR1 Gene

ENSEMBL:
Gene Tree for CCAR1 (if available)
TreeFam:
Gene Tree for CCAR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCAR1: view image

Paralogs for CCAR1 Gene

Paralogs for CCAR1 Gene

(1) SIMAP similar genes for CCAR1 Gene using alignment to 10 proteins:

  • CCAR1_HUMAN
  • F5H1H2_HUMAN
  • F5H1L3_HUMAN
  • F5H2E6_HUMAN
  • F5H3E1_HUMAN
  • F5H3I8_HUMAN
  • F5H7M9_HUMAN
  • F5H808_HUMAN
  • H0YFJ7_HUMAN
  • H0YFT7_HUMAN
genes like me logo Genes that share paralogs with CCAR1: view

Variants for CCAR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCAR1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
VAR_035497 A colorectal cancer sample p.Glu607Lys
rs1060145 - p.Glu681Gly
rs11542602 - p.Met747Val
rs1782338 - p.Thr588Ile

Additional dbSNP identifiers (rs#s) for CCAR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCAR1 Gene

Variant ID Type Subtype PubMed ID
dgv919n100 CNV gain 25217958
esv2759764 CNV loss 17122850
esv3406931 CNV insertion 20981092
esv3546462 CNV deletion 23714750
nsv1047983 CNV gain 25217958
nsv1052569 CNV gain 25217958
nsv1134023 CNV deletion 24896259
nsv1144498 CNV deletion 24896259
nsv551435 CNV loss 21841781
nsv6999 CNV insertion 18451855
nsv8684 CNV gain 18304495

Variation tolerance for CCAR1 Gene

Residual Variation Intolerance Score: 7.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCAR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCAR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCAR1 Gene

Disorders for CCAR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCAR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gingival disease
  • gingival diseases
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CCAR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCAR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCAR1 Gene

Publications for CCAR1 Gene

  1. Identification and characterization of a cell cycle and apoptosis regulatory protein-1 as a novel mediator of apoptosis signaling by retinoid CD437. (PMID: 12816952) Rishi AK … Reichert U (The Journal of biological chemistry 2003) 2 3 4 54
  2. CCAR1/CoCoA pair-mediated recruitment of the Mediator defines a novel pathway for GATA1 function. (PMID: 24245781) Mizuta S … Ito M (Genes to cells : devoted to molecular & cellular mechanisms 2014) 3 4 54
  3. CCAR1 promotes chromatin loading of androgen receptor (AR) transcription complex by stabilizing the association between AR and GATA2. (PMID: 23887938) Seo WY … Kim JH (Nucleic acids research 2013) 3 4 54
  4. CCAR1, a key regulator of mediator complex recruitment to nuclear receptor transcription complexes. (PMID: 18722177) Kim JH … Stallcup MR (Molecular cell 2008) 3 4 54
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54

Products for CCAR1 Gene

Sources for CCAR1 Gene