Aliases for CABCOCO1 Gene

Aliases for CABCOCO1 Gene

  • Ciliary Associated Calcium Binding Coiled-Coil 1 2 3 5
  • Ciliary-Associated Calcium-Binding Coiled-Coil Protein 1 3 4
  • C10orf107 3 4
  • Calcium-Binding Coiled-Coil Protein-1 2
  • Chromosome 10 Open Reading Frame 107 2
  • Uncharacterized Protein C10orf107 3
  • Em:AC022398.2 2
  • CABCOCO1 5
  • BA63A2.1 2
  • MGC44593 2

External Ids for CABCOCO1 Gene

Previous HGNC Symbols for CABCOCO1 Gene

  • C10orf107

Summaries for CABCOCO1 Gene

GeneCards Summary for CABCOCO1 Gene

CABCOCO1 (Ciliary Associated Calcium Binding Coiled-Coil 1) is a Protein Coding gene. Diseases associated with CABCOCO1 include Bartter Syndrome, Type 2, Antenatal.

UniProtKB/Swiss-Prot Summary for CABCOCO1 Gene

  • Calcium-binding protein. May be involved in the control of sperm flagellar movement.

Additional gene information for CABCOCO1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CABCOCO1 Gene

Genomics for CABCOCO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CABCOCO1 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
GH10J061662 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 641.9 +0.2 172 1.8 RFX1 CTCF EZH2 ZFX RFX3 BMI1 ZBTB26 SIN3A RAD21 ZNF202 CABCOCO1 ENSG00000272592 ARID5B
GH10J061750 Enhancer 1.4 Ensembl ENCODE dbSUPER 35.7 +96.1 96145 17.1 RNF2 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 RFX1 LEF1 IKZF1 MH359362 CABCOCO1 ARID5B CDK1 RTKN2 TMEM26 piR-37895-023
GH10J061621 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 32.1 -40.4 -40408 4.2 ZNF692 FOXA1 POLR2A SOX6 TCF7L2 ZXDB HES1 ZSCAN5C OSR2 MEF2D CABCOCO1 TMEM26 TMEM26-AS1 piR-43106-026 piR-50357-017
GH10J061634 Enhancer 0.9 Ensembl ENCODE 33.8 -28.0 -27964 4.4 ZNF629 SP1 CEBPB BRCA1 FOS CHD2 JUN RCOR1 JUND EP300 CABCOCO1 piR-43106-026 piR-50357-017 TMEM26
GH10J061627 Enhancer 1 Ensembl ENCODE 20.3 -34.2 -34167 2.7 CREB1 CTCF ZNF629 TARDBP FOXA1 ZSCAN4 REST ZNF600 CEBPB SP1 CABCOCO1 piR-43106-026 piR-50357-017 TMEM26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CABCOCO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CABCOCO1

Genomic Locations for CABCOCO1 Gene

Genomic Locations for CABCOCO1 Gene
chr10:61,662,929-61,766,766
(GRCh38/hg38)
Size:
103,838 bases
Orientation:
Plus strand
chr10:63,422,719-63,526,524
(GRCh37/hg19)
Size:
103,806 bases
Orientation:
Plus strand

Genomic View for CABCOCO1 Gene

Genes around CABCOCO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABCOCO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABCOCO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABCOCO1 Gene

Proteins for CABCOCO1 Gene

  • Protein details for CABCOCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVU9-CBCO1_HUMAN
    Recommended name:
    Ciliary-associated calcium-binding coiled-coil protein 1
    Protein Accession:
    Q8IVU9
    Secondary Accessions:
    • Q5T1B8

    Protein attributes for CABCOCO1 Gene

    Size:
    208 amino acids
    Molecular mass:
    23883 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CABCOCO1 Gene

Post-translational modifications for CABCOCO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CABCOCO1 Gene

Domains & Families for CABCOCO1 Gene

Gene Families for CABCOCO1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CABCOCO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CABCOCO1 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 10 open reading frame 107 (Q5T1B7_HUMAN)
genes like me logo Genes that share domains with CABCOCO1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CABCOCO1 Gene

Function for CABCOCO1 Gene

Molecular function for CABCOCO1 Gene

UniProtKB/Swiss-Prot Function:
Calcium-binding protein. May be involved in the control of sperm flagellar movement.

Phenotypes From GWAS Catalog for CABCOCO1 Gene

Gene Ontology (GO) - Molecular Function for CABCOCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CABCOCO1: view
genes like me logo Genes that share phenotypes with CABCOCO1: view

Animal Models for CABCOCO1 Gene

MGI Knock Outs for CABCOCO1:

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CABCOCO1 Gene

Localization for CABCOCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABCOCO1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium, flagellum. Note=Colocalized with pericentrin at centrosome of spermatocytes and round spermatids. {ECO:0000250 UniProtKB:Q8CDT7}.

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 CABCOCO1 gene
Compartment Confidence
cytoskeleton 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CABCOCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005813 centrosome ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with CABCOCO1: view

Pathways & Interactions for CABCOCO1 Gene

PathCards logo

SuperPathways for CABCOCO1 Gene

No Data Available

Interacting Proteins for CABCOCO1 Gene

Gene Ontology (GO) - Biological Process for CABCOCO1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CABCOCO1 Gene

Drugs & Compounds for CABCOCO1 Gene

No Compound Related Data Available

Transcripts for CABCOCO1 Gene

mRNA/cDNA for CABCOCO1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for CABCOCO1 Gene

No ASD Table

Relevant External Links for CABCOCO1 Gene

GeneLoc Exon Structure for
CABCOCO1

Expression for CABCOCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CABCOCO1

Evidence on tissue expression from TISSUES for CABCOCO1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CABCOCO1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CABCOCO1 Gene

Orthologs for CABCOCO1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CABCOCO1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C10H10orf107 30
  • 98.56 (n)
C10orf107 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C4H10orf107 30
  • 88.94 (n)
C10orf107 31
  • 60 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C28H10orf107 30
  • 88.67 (n)
C10ORF107 31
  • 47 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1306739 30
  • 78.53 (n)
Mouse
(Mus musculus)
Mammalia 1700040L02Rik 30 31
  • 77.56 (n)
OneToOne
Cabcoco1 17
Oppossum
(Monodelphis domestica)
Mammalia C10orf107 31
  • 46 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C10orf107 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C6H10ORF107 30
  • 61.05 (n)
C10orf107 31
  • 36 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486238 30
  • 59.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:194508 30
  • 49.75 (n)
C12H10orf107 31
  • 17 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToOne
Species where no ortholog for CABCOCO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 CABCOCO1 Gene

ENSEMBL:
Gene Tree for CABCOCO1 (if available)
TreeFam:
Gene Tree for CABCOCO1 (if available)

Paralogs for CABCOCO1 Gene

No data available for Paralogs for CABCOCO1 Gene

Variants for CABCOCO1 Gene

Additional dbSNP identifiers (rs#s) for CABCOCO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CABCOCO1 Gene

Variant ID Type Subtype PubMed ID
dgv42n21 CNV loss 19592680
esv1510214 CNV insertion 17803354
esv2737507 CNV deletion 23290073
esv3623486 CNV loss 21293372
nsv1113304 CNV deletion 24896259
nsv1140453 CNV tandem duplication 24896259

Variation tolerance for CABCOCO1 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABCOCO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABCOCO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CABCOCO1 Gene

Disorders for CABCOCO1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CABCOCO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bartter syndrome, type 2, antenatal
  • abs2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CABCOCO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CABCOCO1 Gene

Publications for CABCOCO1 Gene

  1. CABCOCO1, a novel coiled-coil protein With calcium-binding activity, is localized in the sperm flagellum. (PMID: 26990073) Kawashima A … Okamura N (Molecular reproduction and development 2016) 2 3
  2. 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
  3. Identification of novel lncRNAs regulated by the TAL1 complex in T-cell acute lymphoblastic leukemia. (PMID: 29654272) Ngoc PCT … Sanda T (Leukemia 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3

Products for CABCOCO1 Gene

Sources for CABCOCO1 Gene