Aliases for CCDC113 Gene

Aliases for CCDC113 Gene

  • Coiled-Coil Domain Containing 113 2 3 5
  • Coiled-Coil Domain-Containing Protein 113 3 4
  • HSPC065 3

External Ids for CCDC113 Gene

Previous GeneCards Identifiers for CCDC113 Gene

  • GC16P056842
  • GC16P058283
  • GC16P044152

Summaries for CCDC113 Gene

GeneCards Summary for CCDC113 Gene

CCDC113 (Coiled-Coil Domain Containing 113) is a Protein Coding gene. Diseases associated with CCDC113 include Cone-Rod Dystrophy 17 and Retinitis Pigmentosa 63.

UniProtKB/Swiss-Prot Summary for CCDC113 Gene

  • Component of centriolar satellites contributing to primary cilium formation.

Gene Wiki entry for CCDC113 Gene

Additional gene information for CCDC113 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC113 Gene

Genomics for CCDC113 Gene

GeneHancer (GH) Regulatory Elements for CCDC113 Gene

Promoters and enhancers for CCDC113 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
GH16J058249 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 504.6 +53.2 53154 1.8 EP300 SIN3A NRF1 SP1 PHF8 SIX5 ZIC2 POLR2A ZBTB26 TARDBP CCDC113 LOC105371293 LOC101927556 piR-41448
GH16J058196 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 736 2.6 POLR2G SP1 CTCF ZIC2 POLR2A ZNF263 ZBTB26 KLF7 MYC TRIM25 CSNK2A2 CCDC113 ENSG00000260867 lnc-CFAP20-3 POLR2C SETD6 CFAP20
GH16J058195 Enhancer 0.4 Ensembl 500.7 -1.4 -1363 0.4 BATF ATF7 RBFOX2 ZNF140 CCDC113 ENSG00000260867 CFAP20 CCL17 CSNK2A2 lnc-CFAP20-3 piR-52561
GH16J058280 Enhancer 0.7 Ensembl ENCODE 18.5 +83.9 83937 1.8 POLR2A FOS RFX5 ZNF335 FEZF1 ZNF518A ZNF449 PRDM10 IKZF1 SP7 lnc-GINS3-3 piR-41448 CCDC113 CFAP20 PRSS54
GH16J057626 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 -567.3 -567256 6.7 CTCF NRF1 TCF12 ZNF300 RBAK NONO JUND TEAD4 FOS ZNF639 ADGRG1 ENSG00000261633 lnc-ADGRG3-1 RSPRY1 LOC101927556 NUP93 POLR2C LOC105371286 ADGRG3 CSNK2A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC113 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC113

Top Transcription factor binding sites by QIAGEN in the CCDC113 gene promoter:
  • AREB6
  • ATF-2
  • c-Myc
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • FOXD1
  • Hlf
  • LCR-F1
  • Max

Genomic Locations for CCDC113 Gene

Genomic Locations for CCDC113 Gene
chr16:58,196,964-58,283,836
(GRCh38/hg38)
Size:
86,873 bases
Orientation:
Plus strand
chr16:58,265,061-58,317,740
(GRCh37/hg19)
Size:
52,680 bases
Orientation:
Plus strand

Genomic View for CCDC113 Gene

Genes around CCDC113 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC113 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC113 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC113 Gene

Proteins for CCDC113 Gene

  • Protein details for CCDC113 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0I3-CC113_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 113
    Protein Accession:
    Q9H0I3
    Secondary Accessions:
    • B2RAQ7
    • B4DR20
    • Q9NZX2

    Protein attributes for CCDC113 Gene

    Size:
    377 amino acids
    Molecular mass:
    44220 Da
    Quaternary structure:
    • Interacts with HAP1 and PCM1.
    SequenceCaution:
    • Sequence=AAF29037.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC113 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC113 Gene

Post-translational modifications for CCDC113 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC113 Gene

Domains & Families for CCDC113 Gene

Gene Families for CCDC113 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC113 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC113 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54132, highly similar to Homo sapiens HSPC065 protein (HSPC065), mRNA (B4DR20_HUMAN)
  • Coiled-coil domain-containing protein 113 (CC113_HUMAN)
genes like me logo Genes that share domains with CCDC113: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC113 Gene

Function for CCDC113 Gene

Molecular function for CCDC113 Gene

UniProtKB/Swiss-Prot Function:
Component of centriolar satellites contributing to primary cilium formation.

Phenotypes From GWAS Catalog for CCDC113 Gene

Gene Ontology (GO) - Molecular Function for CCDC113 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25074808
genes like me logo Genes that share ontologies with CCDC113: view
genes like me logo Genes that share phenotypes with CCDC113: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC113 Gene

Localization for CCDC113 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC113 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Colocalized with HAP1 at centriolar satellites. Centriolar satellite localization requires PCM1. {ECO:0000269 PubMed:25074808}.

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 CCDC113 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
mitochondrion 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for CCDC113 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCDC113: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC113 Gene

Pathways & Interactions for CCDC113 Gene

PathCards logo

SuperPathways for CCDC113 Gene

No Data Available

Interacting Proteins for CCDC113 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q9H0I3-CC113_HUMAN ENSP00000219299 for CCDC113 Gene via MINT STRING IID

;

Gene Ontology (GO) - Biological Process for CCDC113 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 25074808
genes like me logo Genes that share ontologies with CCDC113: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC113 Gene

Drugs & Compounds for CCDC113 Gene

No Compound Related Data Available

Transcripts for CCDC113 Gene

mRNA/cDNA for CCDC113 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC113 Gene

No ASD Table

Relevant External Links for CCDC113 Gene

GeneLoc Exon Structure for
CCDC113

Expression for CCDC113 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC113 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC113 Gene

This gene is overexpressed in Testis (x8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC113 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC113

SOURCE GeneReport for Unigene cluster for CCDC113 Gene:

Hs.11614

Evidence on tissue expression from TISSUES for CCDC113 Gene

  • Nervous system(4.4)
  • Blood(4)
genes like me logo Genes that share expression patterns with CCDC113: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC113 Gene

Orthologs for CCDC113 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC113 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC113 31 30
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC113 31 30
  • 87.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC113 31 30
  • 83.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc113 17 31 30
  • 81.79 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc113 30
  • 77.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC113 31
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC113 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC113 31 30
  • 57.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC113 31
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc113 30
  • 59.09 (n)
Str.12836 30
zebrafish
(Danio rerio)
Actinopterygii ccdc113 31 30
  • 51.11 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for CCDC113 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for CCDC113 Gene

ENSEMBL:
Gene Tree for CCDC113 (if available)
TreeFam:
Gene Tree for CCDC113 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC113: view image

Paralogs for CCDC113 Gene

No data available for Paralogs for CCDC113 Gene

Variants for CCDC113 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC113 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs8043587 - p.Asp4Glu
rs8043590 - p.Ser6Thr

Additional dbSNP identifiers (rs#s) for CCDC113 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC113 Gene

Variant ID Type Subtype PubMed ID
esv2672427 CNV deletion 23128226
esv2714548 CNV deletion 23290073
esv3553490 CNV deletion 23714750
esv6424 CNV loss 19470904
nsv474315 CNV novel sequence insertion 20440878

Variation tolerance for CCDC113 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC113 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC113

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC113 Gene

Disorders for CCDC113 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC113 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 17
  • cord17
retinitis pigmentosa 63
  • rp63
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC113

genes like me logo Genes that share disorders with CCDC113: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC113 Gene

Publications for CCDC113 Gene

  1. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. (PMID: 25074808) Firat-Karalar EN … Stearns T (Journal of cell science 2014) 2 3 4 54
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for CCDC113 Gene

  • Biorbyt antibodies for CCDC113

Sources for CCDC113 Gene