This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the ... See more...

Aliases for CEP104 Gene

Aliases for CEP104 Gene

  • Centrosomal Protein 104 2 3 5
  • KIAA0562 2 3 4
  • Centrosomal Protein Of 104 KDa 3 4
  • Centrosomal Protein 104kDa 2 3
  • CFAP256 2 3
  • JBTS25 2 3
  • GlyBP 2 3
  • ROC22 2 3
  • Glycine, Glutamate, Thienylcyclohexylpiperidine Binding Protein 2
  • RP1-286D6.4 2
  • CEP104 5
  • Cep104 4

External Ids for CEP104 Gene

Previous HGNC Symbols for CEP104 Gene

  • KIAA0562

Previous GeneCards Identifiers for CEP104 Gene

  • GC01M003728

Summaries for CEP104 Gene

Entrez Gene Summary for CEP104 Gene

  • This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

GeneCards Summary for CEP104 Gene

CEP104 (Centrosomal Protein 104) is a Protein Coding gene. Diseases associated with CEP104 include Joubert Syndrome 25 and Aceruloplasminemia. Gene Ontology (GO) annotations related to this gene include binding and glutamate binding.

UniProtKB/Swiss-Prot Summary for CEP104 Gene

  • Required for ciliogenesis and for structural integrity at the ciliary tip.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP104 Gene

Genomics for CEP104 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP104 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP104 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP104

Genomic Locations for CEP104 Gene

Genomic Locations for CEP104 Gene
chr1:3,812,086-3,857,233
(GRCh38/hg38)
Size:
45,148 bases
Orientation:
Minus strand
chr1:3,728,645-3,773,797
(GRCh37/hg19)
Size:
45,153 bases
Orientation:
Minus strand

Genomic View for CEP104 Gene

Genes around CEP104 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP104 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP104 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP104 Gene

Proteins for CEP104 Gene

  • Protein details for CEP104 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60308-CE104_HUMAN
    Recommended name:
    Centrosomal protein of 104 kDa
    Protein Accession:
    O60308
    Secondary Accessions:
    • A0A024R4G3
    • Q5JSQ3
    • Q5SR24
    • Q5SR25
    • Q6PKF5
    • Q86W32
    • Q86X14

    Protein attributes for CEP104 Gene

    Size:
    925 amino acids
    Molecular mass:
    104448 Da
    Quaternary structure:
    • Interacts with CCP110 and CEP97.
    SequenceCaution:
    • Sequence=AAH01640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA25488.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP104 Gene

    Alternative splice isoforms for CEP104 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP104 Gene

Post-translational modifications for CEP104 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CEP104 Gene

Domains & Families for CEP104 Gene

Gene Families for CEP104 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CEP104 Gene

Suggested Antigen Peptide Sequences for CEP104 Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein of 104 kDa (CE104_HUMAN)
  • KIAA0562 (Q5SR26_HUMAN)
genes like me logo Genes that share domains with CEP104: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP104 Gene

Function for CEP104 Gene

Molecular function for CEP104 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis and for structural integrity at the ciliary tip.

Phenotypes From GWAS Catalog for CEP104 Gene

Gene Ontology (GO) - Molecular Function for CEP104 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26420826
GO:0016594 glycine binding IEA --
GO:0016595 glutamate binding IEA --
GO:0016596 thienylcyclohexylpiperidine binding IEA --
genes like me logo Genes that share ontologies with CEP104: view

Phenotypes for CEP104 Gene

genes like me logo Genes that share phenotypes with CEP104: view

Human Phenotype Ontology for CEP104 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CEP104 Gene

miRTarBase miRNAs that target CEP104

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP104

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP104 Gene

Localization for CEP104 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP104 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles. {ECO:0000269 PubMed:23970417}.

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 CEP104 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CEP104 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IEA,IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP104: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP104 Gene

Pathways & Interactions for CEP104 Gene

PathCards logo

SuperPathways for CEP104 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP104 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CEP104 Gene

Drugs & Compounds for CEP104 Gene

No Compound Related Data Available

Transcripts for CEP104 Gene

mRNA/cDNA for CEP104 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP104

Alternative Splicing Database (ASD) splice patterns (SP) for CEP104 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^
SP1: - - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:

Relevant External Links for CEP104 Gene

GeneLoc Exon Structure for
CEP104

Expression for CEP104 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP104 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP104 Gene

This gene is overexpressed in Liver (24.4), Salivary gland (14.2), Urine (13.5), and Placenta (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP104 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP104

SOURCE GeneReport for Unigene cluster for CEP104 Gene:

Hs.509017

Evidence on tissue expression from TISSUES for CEP104 Gene

  • Skin(4.4)
  • Nervous system(4.4)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with CEP104: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP104 Gene

Orthologs for CEP104 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP104 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CEP104 30 31
  • 99.03 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP104 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP104 30 31
  • 83.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep104 30 17 31
  • 80 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP104 30 31
  • 79.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep104 30
  • 79.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia CEP104 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP104 30 31
  • 71.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP104 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep104 30
  • 66.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep104 30 31
  • 59.19 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10137 30 31
  • 45.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009750 30
  • 44.02 (n)
Worm
(Caenorhabditis elegans)
Secernentea C40H1.3 31
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2978 31
  • 43 (a)
OneToOne
Species where no ortholog for CEP104 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for CEP104 Gene

ENSEMBL:
Gene Tree for CEP104 (if available)
TreeFam:
Gene Tree for CEP104 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP104: view image

Paralogs for CEP104 Gene

No data available for Paralogs for CEP104 Gene

Variants for CEP104 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP104 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
643732 Uncertain Significance: Joubert syndrome 25 3,836,697(-) A/T INTRON_VARIANT
647427 Uncertain Significance: Joubert syndrome 25 3,845,293(-) T/C MISSENSE_VARIANT
663561 Uncertain Significance: Joubert syndrome 25 3,836,595(-) C/T MISSENSE_VARIANT
707262 Benign: Joubert syndrome 25 3,844,983(-) C/A MISSENSE_VARIANT
707355 Benign: Joubert syndrome 25 3,829,868(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CEP104 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP104 Gene

Variant ID Type Subtype PubMed ID
esv1074506 CNV insertion 17803354
esv1948239 CNV deletion 18987734
esv3585042 CNV gain 21293372
esv3585052 CNV gain 21293372
nsv1012423 CNV gain 25217958
nsv1116483 OTHER inversion 24896259
nsv1140742 CNV deletion 24896259
nsv1141741 CNV insertion 24896259
nsv159844 CNV deletion 16902084
nsv509590 CNV insertion 20534489
nsv545130 CNV gain 21841781
nsv830425 CNV gain 17160897

Variation tolerance for CEP104 Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.37; 88.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP104 Gene

Human Gene Mutation Database (HGMD)
CEP104
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP104

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP104 Gene

Disorders for CEP104 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CEP104 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 25
  • jbts25
aceruloplasminemia
  • cerebellar ataxia
dystonia
  • dystonic disease
joubert syndrome 1
  • jbts1
oculomotor apraxia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CE104_HUMAN
  • Joubert syndrome 25 (JBTS25) [MIM:616781]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive. {ECO:0000269 PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CEP104: view

No data available for Genatlas for CEP104 Gene

Publications for CEP104 Gene

  1. Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly. (PMID: 23970417) Satish Tammana TV … Rosenbaum J (Journal of cell science 2013) 2 3 4
  2. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 2 3 4
  3. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (PMID: 26477546) Srour M … Michaud JL (American journal of human genetics 2015) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. 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

Products for CEP104 Gene

Sources for CEP104 Gene