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Aliases for CEP89 Gene

Aliases for CEP89 Gene

  • Centrosomal Protein 89kDa 2 3
  • CCDC123 3 4 6
  • CEP123 3 4 6
  • Coiled-Coil Domain Containing 123 2 3
  • Centrosomal Protein 123 3 4
  • Coiled-Coil Domain-Containing Protein 123, Mitochondrial 3
  • Coiled-Coil Domain-Containing Protein 123 4
  • Centrosomal Protein Of 89 KDa 3
  • FLJ14640 6
  • CEP89 4

External Ids for CEP89 Gene

Previous Symbols for CEP89 Gene

  • CCDC123

Summaries for CEP89 Gene

GeneCards Summary for CEP89 Gene

CEP89 (Centrosomal Protein 89kDa) is a Protein Coding gene. Diseases associated with CEP89 include isolated cytochrome c oxidase deficiency.

UniProtKB/Swiss-Prot for CEP89 Gene

  • Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP89 Gene

Genomics for CEP89 Gene

Genomic Location for CEP89 Gene

Start:
32,878,996 bp from pter
End:
32,972,024 bp from pter
Size:
93,029 bases
Orientation:
Minus strand

Genomic View for CEP89 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP89 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP89 Gene

No data available for Regulatory Elements for CEP89 Gene

Proteins for CEP89 Gene

  • Protein details for CEP89 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ST8-CEP89_HUMAN
    Recommended name:
    Centrosomal protein of 89 kDa
    Protein Accession:
    Q96ST8
    Secondary Accessions:
    • B9EGA6
    • Q8N5J8

    Protein attributes for CEP89 Gene

    Size:
    783 amino acids
    Molecular mass:
    89590 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CEP89 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP89 Gene

Proteomics data for CEP89 Gene at MOPED

Post-translational modifications for CEP89 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys682 and Lys700

Other Protein References for CEP89 Gene

No data available for DME Specific Peptides for CEP89 Gene

Domains for CEP89 Gene

Protein Domains for CEP89 Gene

ProtoNet:
genes like me logo Genes that share domains with CEP89: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CEP89 Gene

Function for CEP89 Gene

Molecular function for CEP89 Gene

UniProtKB/Swiss-Prot Function: Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.

Gene Ontology (GO) - Molecular Function for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23789104
genes like me logo Genes that share ontologies with CEP89: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CEP89 Gene

Localization for CEP89 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP89 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

Gene Ontology (GO) - Cellular Components for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21399614
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with CEP89: view

Pathways for CEP89 Gene

SuperPathways for CEP89 Gene

No Data Available

Interacting Proteins for CEP89 Gene

Gene Ontology (GO) - Biological Process for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0035058 nonmotile primary cilium assembly IMP 23789104
GO:0042384 cilium assembly IMP 23348840
genes like me logo Genes that share ontologies with CEP89: view

No data available for Pathways by source for CEP89 Gene

Transcripts for CEP89 Gene

Unigene Clusters for CEP89 Gene

Centrosomal protein 89kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP89 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for CEP89 Gene

GeneLoc Exon Structure for
CEP89
ECgene alternative splicing isoforms for
CEP89

Expression for CEP89 Gene

mRNA expression in normal human tissues for CEP89 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP89 Gene

SOURCE GeneReport for Unigene cluster for CEP89 Gene Hs.599703

genes like me logo Genes that share expressions with CEP89: view

Orthologs for CEP89 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP89 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP89 36
  • 98.33 (n)
  • 97.96 (a)
CEP89 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP89 36
  • 81.79 (n)
  • 75.29 (a)
CEP89 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP89 36
  • 83.33 (n)
  • 79.28 (a)
CEP89 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep89 36
  • 75.87 (n)
  • 70.45 (a)
Cep89 16
Cep89 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP89 37
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP89 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep89 36
  • 77.99 (n)
  • 71.66 (a)
chicken
(Gallus gallus)
Aves CEP89 36
  • 63.75 (n)
  • 55.98 (a)
CEP89 37
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP89 37
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep89 36
  • 58.21 (n)
  • 49.8 (a)
zebrafish
(Danio rerio)
Actinopterygii cep89 36
  • 54.35 (n)
  • 48.43 (a)
cep89 37
  • 41 (a)
OneToOne
zgc63648 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToOne
Species with no ortholog for CEP89:
  • 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 CEP89 Gene

ENSEMBL:
Gene Tree for CEP89 (if available)
TreeFam:
Gene Tree for CEP89 (if available)

Paralogs for CEP89 Gene

Selected SIMAP similar genes for CEP89 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CEP89: view

No data available for Paralogs for CEP89 Gene

Variants for CEP89 Gene

Sequence variations from dbSNP and Humsavar for CEP89 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs745959 -- 32,879,255(-) CTGGT(G/T)GCCCC synonymous-codon, reference
rs745960 -- 32,879,178(-) GTCTC(A/T)TGCCC reference, missense
rs745961 -- 32,879,164(-) CCTGC(C/T)AGAAT stop-lost, reference
rs746641 -- 32,878,749(+) GACAG(A/C)TTGAG downstream-variant-500B
rs892024 -- 32,908,438(+) GAGCC(A/G)GGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP89 Gene

Variant ID Type Subtype PubMed ID
nsv911576 CNV Loss 21882294
nsv516922 CNV Loss 19592680
nsv911577 CNV Loss 21882294
nsv911578 CNV Gain 21882294
esv24841 CNV Loss 19812545
esv26692 CNV Loss 19812545
nsv833807 CNV Loss 17160897
nsv510473 CNV Loss 20534489

Relevant External Links for CEP89 Gene

HapMap Linkage Disequilibrium report
CEP89
Human Gene Mutation Database (HGMD)
CEP89

Disorders for CEP89 Gene

UniProtKB/Swiss-Prot

CEP89_HUMAN
  • Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness. {ECO:0000269 PubMed:23575228}.
genes like me logo Genes that share disorders with CEP89: view

Publications for CEP89 Gene

  1. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 3 4
  2. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. (PMID: 23575228) van Bon B.W. … Schenck A. (Hum. Mol. Genet. 2013) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y. … Lee B. (Hum. Genet. 2006) 2 3
  5. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 3 4

Products for CEP89 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CEP89
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CEP89
    • Block miRNA regulation of CEP89 using miScript Target Protectors

    Sources for CEP89 Gene

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