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Aliases for CEP83 Gene

Aliases for CEP83 Gene

  • Centrosomal Protein 83kDa 2 3
  • Coiled-Coil Domain-Containing Protein 41 3 4
  • Renal Carcinoma Antigen NY-REN-58 3 4
  • Coiled-Coil Domain Containing 41 2 3
  • CCDC41 3 4
  • Centrosomal Protein Of 83 KDa 3
  • NY-REN-58 Antigen 3
  • NY-REN-58 3
  • NPHP18 3
  • Cep83 4

External Ids for CEP83 Gene

Previous HGNC Symbols for CEP83 Gene

  • CCDC41

Previous GeneCards Identifiers for CEP83 Gene

  • GC12M094700

Summaries for CEP83 Gene

GeneCards Summary for CEP83 Gene

CEP83 (Centrosomal Protein 83kDa) is a Protein Coding gene. Diseases associated with CEP83 include nephronophthisis 18 and infantile nephronophthisis.

UniProtKB/Swiss-Prot for CEP83 Gene

  • Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP83 Gene

Genomics for CEP83 Gene

Genomic Location for CEP83 Gene

Start:
94,277,758 bp from pter
End:
94,459,988 bp from pter
Size:
182,231 bases
Orientation:
Minus strand

Genomic View for CEP83 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP83 Gene

No data available for Regulatory Elements for CEP83 Gene

Proteins for CEP83 Gene

  • Protein details for CEP83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y592-CEP83_HUMAN
    Recommended name:
    Centrosomal protein of 83 kDa
    Protein Accession:
    Q9Y592
    Secondary Accessions:
    • A4FVB1
    • Q08AP1

    Protein attributes for CEP83 Gene

    Size:
    693 amino acids
    Molecular mass:
    82059 Da
    Quaternary structure:
    • Interacts with CEP164 and IFT20.
    SequenceCaution:
    • Sequence=AAD42881.1; Type=Frameshift; Positions=105, 590, 601; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP83 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP83 Gene

Proteomics data for CEP83 Gene at MOPED

Post-translational modifications for CEP83 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CEP83 Gene

Domains for CEP83 Gene

Protein Domains for CEP83 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y592

UniProtKB/Swiss-Prot:

CEP83_HUMAN :
  • Q9Y592
Family:
  • Belongs to the CEP83 family.
genes like me logo Genes that share domains with CEP83: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for CEP83 Gene

Function for CEP83 Gene

Molecular function for CEP83 Gene

UniProtKB/Swiss-Prot Function: Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.

Gene Ontology (GO) - Molecular Function for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 23530209
genes like me logo Genes that share ontologies with CEP83: view

miRNA for CEP83 Gene

miRTarBase miRNAs that target CEP83

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CEP83 Gene

Localization for CEP83 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP83 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.

Gene Ontology (GO) - Cellular Components for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 23530209
GO:0005814 centriole IDA 23348840
GO:0005829 cytosol TAS --
GO:0097539 ciliary transition fiber IDA 23348840
genes like me logo Genes that share ontologies with CEP83: view

No data available for Subcellular locations from COMPARTMENTS for CEP83 Gene

Pathways for CEP83 Gene

SuperPathways for CEP83 Gene

No Data Available

Interacting Proteins for CEP83 Gene

Gene Ontology (GO) - Biological Process for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0042384 cilium assembly IMP 23348840
GO:0048278 vesicle docking IMP 23530209
GO:0051660 establishment of centrosome localization --
GO:0071539 protein localization to centrosome IMP 23348840
genes like me logo Genes that share ontologies with CEP83: view

No data available for Pathways by source for CEP83 Gene

Transcripts for CEP83 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CEP83 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - -
SP4:
SP5:
SP6: - -
SP7:
SP8: - - - - - - - - - - - - -
SP9: -
SP10:

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CEP83 Gene

GeneLoc Exon Structure for
CEP83
ECgene alternative splicing isoforms for
CEP83

Expression for CEP83 Gene

mRNA expression in normal human tissues for CEP83 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CEP83 Gene

genes like me logo Genes that share expressions with CEP83: view

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 CEP83 Gene

Orthologs for CEP83 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP83 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC41 35
  • 99.52 (n)
  • 99.43 (a)
CCDC41 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC41 35
  • 89.71 (n)
  • 87.29 (a)
CCDC41 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC41 35
  • 91.39 (n)
  • 89.44 (a)
CCDC41 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc41 35
  • 85.16 (n)
  • 84.1 (a)
Ccdc41 16
Ccdc41 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC41 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC41 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc41 35
  • 85.93 (n)
  • 85.84 (a)
chicken
(Gallus gallus)
Aves CCDC41 35
  • 70.59 (n)
  • 66.81 (a)
CCDC41 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC41 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32598 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc41 35
  • 67.41 (n)
  • 63.8 (a)
Str.19384 35
zebrafish
(Danio rerio)
Actinopterygii ccdc41 35
  • 59.41 (n)
  • 57.35 (a)
ccdc41 36
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3247 36
  • 35 (a)
OneToOne
Species with no ortholog for CEP83:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 CEP83 Gene

ENSEMBL:
Gene Tree for CEP83 (if available)
TreeFam:
Gene Tree for CEP83 (if available)

Paralogs for CEP83 Gene

Pseudogenes.org Pseudogenes for CEP83 Gene

genes like me logo Genes that share paralogs with CEP83: view

No data available for Paralogs for CEP83 Gene

Variants for CEP83 Gene

Sequence variations from dbSNP and Humsavar for CEP83 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1520723 -- 94,433,218(-) TACCC(C/T)GTAAT intron-variant
rs1915335 -- 94,456,703(-) ATGGC(A/G)GCGGT intron-variant
rs1961780 -- 94,384,805(+) AACCA(C/G)GTTTA intron-variant
rs1973832 -- 94,315,949(+) tctag(C/T)tttat intron-variant
rs2176899 -- 94,365,815(+) TGAAC(A/T)TAGGA intron-variant

Relevant External Links for CEP83 Gene

HapMap Linkage Disequilibrium report
CEP83
Human Gene Mutation Database (HGMD)
CEP83

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEP83 Gene

Disorders for CEP83 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CEP83 Gene including...

Search for CEP83 Gene in MalaCards »

UniProtKB/Swiss-Prot

CEP83_HUMAN
  • Nephronophthisis 18 (NPHP18) [MIM:615862]: An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. {ECO:0000269 PubMed:24882706}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CEP83: view

Publications for CEP83 Gene

  1. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 4
  2. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 2 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. CCDC41 is required for ciliary vesicle docking to the mother centriole. (PMID: 23530209) Joo K. … Kim J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4

Products for CEP83 Gene

Sources for CEP83 Gene

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