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Aliases for CCDC79 Gene

Aliases for CCDC79 Gene

  • Coiled-Coil Domain Containing 79 2 3 5
  • Coiled-Coil Domain-Containing Protein 79 4
  • TERB1 4

External Ids for CCDC79 Gene

Previous GeneCards Identifiers for CCDC79 Gene

  • GC16M065346
  • GC16M052664

Summaries for CCDC79 Gene

GeneCards Summary for CCDC79 Gene

CCDC79 (Coiled-Coil Domain Containing 79) is a Protein Coding gene. GO annotations related to this gene include chromatin binding and binding.

UniProtKB/Swiss-Prot for CCDC79 Gene

  • Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC79 Gene

Genomics for CCDC79 Gene

Regulatory Elements for CCDC79 Gene

Enhancers for CCDC79 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CCDC79 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC79 Gene

Chromosome:
16
Start:
66,754,411 bp from pter
End:
66,801,620 bp from pter
Size:
47,210 bases
Orientation:
Minus strand

Genomic View for CCDC79 Gene

Genes around CCDC79 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC79 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC79 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC79 Gene

Proteins for CCDC79 Gene

  • Protein details for CCDC79 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA31-TERB1_HUMAN
    Recommended name:
    Telomere repeats-binding bouquet formation protein 1
    Protein Accession:
    Q8NA31
    Secondary Accessions:
    • A0AUW1

    Protein attributes for CCDC79 Gene

    Size:
    727 amino acids
    Molecular mass:
    83064 Da
    Quaternary structure:
    • Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2. Interacts with TERF1, STAG3 and SUN1. Interacts (via Myb-like domain) with the cohesin complex; probably mediated via interaction with STAG3.

    Alternative splice isoforms for CCDC79 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC79 Gene

Proteomics data for CCDC79 Gene at MOPED

Post-translational modifications for CCDC79 Gene

  • Phosphorylated by CDK. Phosphorylation by CDK takes place in late prophase when the cap exchange is prominent. is important for the stabilization of telomere attachment but dispenable for the cap exchange.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC79 Gene

No data available for DME Specific Peptides for CCDC79 Gene

Domains & Families for CCDC79 Gene

Gene Families for CCDC79 Gene

Protein Domains for CCDC79 Gene

Suggested Antigen Peptide Sequences for CCDC79 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NA31

UniProtKB/Swiss-Prot:

TERB1_HUMAN :
  • Contains 1 Myb-like domain.
  • Belongs to the TERB1 family.
  • Contains 2 ARM repeats.
Domain:
  • Contains 1 Myb-like domain.
Family:
  • Belongs to the TERB1 family.
Similarity:
  • Contains 2 ARM repeats.
genes like me logo Genes that share domains with CCDC79: view

Function for CCDC79 Gene

Molecular function for CCDC79 Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.
genes like me logo Genes that share phenotypes with CCDC79: view

Animal Models for CCDC79 Gene

MGI Knock Outs for CCDC79:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC79 Gene

Localization for CCDC79 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC79 Gene

Chromosome, telomere. Nucleus inner membrane. Note=Localizes to telomeres during meiotic prophase. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250 UniProtKB:Q8C0V1}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC79 Gene COMPARTMENTS Subcellular localization image for CCDC79 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for CCDC79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region ISS --
genes like me logo Genes that share ontologies with CCDC79: view

Pathways & Interactions for CCDC79 Gene

SuperPathways for CCDC79 Gene

No Data Available

Interacting Proteins for CCDC79 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000462883%0d%0a9606.ENSP00000319318%0d%0a9606.ENSP00000323421%0d%0a9606.ENSP00000350036%0d%0a
Selected Interacting proteins: ENSP00000462883 for CCDC79 Gene via STRING

Gene Ontology (GO) - Biological Process for CCDC79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045141 meiotic telomere clustering IEA,ISS --
genes like me logo Genes that share ontologies with CCDC79: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC79 Gene

Drugs & Compounds for CCDC79 Gene

No Compound Related Data Available

Transcripts for CCDC79 Gene

mRNA/cDNA for CCDC79 Gene

(19) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC79 Gene

Coiled-coil domain containing 79:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC79 Gene

No ASD Table

Relevant External Links for CCDC79 Gene

GeneLoc Exon Structure for
CCDC79
ECgene alternative splicing isoforms for
CCDC79

Expression for CCDC79 Gene

mRNA expression in normal human tissues for CCDC79 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC79 Gene

This gene is overexpressed in Testis (x44.9).

Protein differential expression in normal tissues from HIPED for CCDC79 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC79 Gene



SOURCE GeneReport for Unigene cluster for CCDC79 Gene Hs.376505

genes like me logo Genes that share expression patterns with CCDC79: view

Protein tissue co-expression partners for CCDC79 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CCDC79 Gene

Orthologs for CCDC79 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC79 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC79 35
  • 90.71 (n)
  • 85.02 (a)
CCDC79 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC79 35
  • 90.66 (n)
  • 86.55 (a)
CCDC79 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc79 35
  • 82.8 (n)
  • 71.84 (a)
Ccdc79 16
Ccdc79 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC79 35
  • 99.4 (n)
  • 99.31 (a)
CCDC79 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc79 35
  • 81.9 (n)
  • 71.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC79 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
-- 36
  • 31 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC79 35
  • 65.44 (n)
  • 53.38 (a)
CCDC79 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC79 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc79 35
  • 57.74 (n)
  • 47.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc79 35
  • 51.48 (n)
  • 44.24 (a)
ccdc79 36
  • 32 (a)
OneToOne
Species with no ortholog for CCDC79:
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for CCDC79 Gene

ENSEMBL:
Gene Tree for CCDC79 (if available)
TreeFam:
Gene Tree for CCDC79 (if available)

Paralogs for CCDC79 Gene

No data available for Paralogs for CCDC79 Gene

Variants for CCDC79 Gene

Sequence variations from dbSNP and Humsavar for CCDC79 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3891546 -- 66,762,914(-) cttga(A/G)cccag intron-variant
rs3963460 -- 66,783,255(+) ggaag(C/T)ttcct intron-variant
rs4035981 -- 66,780,343(+) ttgct(C/T)gaatt intron-variant
rs171203 -- 66,789,501(+) atggc(A/G)tgaac intron-variant
rs171204 -- 66,789,533(+) gagcc(A/G)agatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC79 Gene

Variant ID Type Subtype PubMed ID
nsv906786 CNV Loss 21882294
dgv2885n71 CNV Loss 21882294
esv1727322 CNV Deletion 17803354
esv2579855 CNV Deletion 19546169
esv1974003 CNV Deletion 18987734
esv2714645 CNV Deletion 23290073
nsv103310 CNV Loss 16902084
esv8216 CNV Loss 19470904
esv1025546 CNV Deletion 17803354

Variation tolerance for CCDC79 Gene

Gene Damage Index Score: 7.44; 81.97% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CCDC79 Gene

Disorders for CCDC79 Gene

Relevant External Links for CCDC79

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC79

No disorders were found for CCDC79 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC79 Gene

Publications for CCDC79 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CCDC79 Gene

Sources for CCDC79 Gene

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