Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CEP89 Gene

Aliases for CEP89 Gene

  • Centrosomal Protein 89kDa 2 3
  • Coiled-Coil Domain Containing 123 2 3
  • Centrosomal Protein 123 3 4
  • CCDC123 3 4
  • CEP123 3 4
  • Coiled-Coil Domain-Containing Protein 123, Mitochondrial 3
  • Coiled-Coil Domain-Containing Protein 123 4
  • Cep89 4

External Ids for CEP89 Gene

Previous HGNC Symbols for CEP89 Gene

  • CCDC123

Previous GeneCards Identifiers for CEP89 Gene

  • GC19M033370

Summaries for CEP89 Gene

GeneCards Summary for CEP89 Gene

CEP89 (Centrosomal Protein 89kDa) is a Protein Coding gene. Diseases associated with CEP89 include cystinuria. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP89 Gene

Chromosome:
19
Start:
32,875,925 bp from pter
End:
32,972,029 bp from pter
Size:
96,105 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

  • Ubiquitination at Lys 682 and Lys 700
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP89 Gene

No data available for DME Specific Peptides for CEP89 Gene

Domains & Families for CEP89 Gene

Protein Domains for CEP89 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CEP89 Gene

Graphical View of Domain Structure for InterPro Entry

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

Phenotypes for CEP89 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP89

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP89 Gene COMPARTMENTS Subcellular localization image for CEP89 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
plasma membrane 4

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:0005758 mitochondrial intermembrane space IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 23348840
genes like me logo Genes that share ontologies with CEP89: view

Pathways & Interactions for CEP89 Gene

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

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 SIGNOR curated interactions for CEP89 Gene

Drugs & Compounds for CEP89 Gene

No Compound Related Data Available

Transcripts for CEP89 Gene

Unigene Clusters for CEP89 Gene

Centrosomal protein 89kDa:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP89

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for CEP89 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.9) and Amniocyte (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CEP89: view

Protein tissue co-expression partners for CEP89 Gene

Primer Products

  • 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

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP89 Gene

Orthologs for CEP89 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP89 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP89 35
  • 81.79 (n)
  • 75.29 (a)
CEP89 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP89 35
  • 83.33 (n)
  • 79.28 (a)
CEP89 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep89 35
  • 75.87 (n)
  • 70.45 (a)
Cep89 16
Cep89 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP89 35
  • 98.33 (n)
  • 97.96 (a)
CEP89 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep89 35
  • 77.99 (n)
  • 71.66 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP89 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP89 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP89 35
  • 63.75 (n)
  • 55.98 (a)
CEP89 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP89 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep89 35
  • 58.21 (n)
  • 49.8 (a)
zebrafish
(Danio rerio)
Actinopterygii cep89 35
  • 54.35 (n)
  • 48.43 (a)
zgc63648 35
cep89 36
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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, nc-transcript-variant
rs745960 -- 32,879,178(-) GTCTC(A/G/T)TGCCC reference, missense, nc-transcript-variant
rs745961 -- 32,879,164(-) CCTGC(C/T)AGAAT stop-lost, reference, nc-transcript-variant
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

Variation tolerance for CEP89 Gene

Residual Variation Intolerance Score: 97.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.18; 95.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP89 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP89 Gene

Disorders for CEP89 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP89 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystinuria
  • csnu
- elite association
Search CEP89 in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for CEP89

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP89
genes like me logo Genes that share disorders with CEP89: view

No data available for Genatlas for CEP89 Gene

Publications for CEP89 Gene

  1. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y. … Lee B. (Hum. Genet. 2006) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. 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) 67
  4. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 67
  5. Primary ciliogenesis requires the distal appendage component Cep123. (PMID: 23789104) Sillibourne J.E. … Bornens M. (Biol Open 2013) 67

Products for CEP89 Gene

Sources for CEP89 Gene

Back to Top

Content