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Aliases for CEP104 Gene

Aliases for CEP104 Gene

  • Centrosomal Protein 104 2 3 5
  • KIAA0562 2 3 4
  • Centrosomal Protein 104kDa 2 3
  • Glycine, Glutamate, Thienylcyclohexylpiperidine Binding Protein 2
  • Centrosomal Protein Of 104 KDa 3
  • CFAP256 3
  • JBTS25 3
  • Cep104 4
  • GlyBP 3
  • ROC22 3

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 1 and Potter's Syndrome. GO annotations related to this gene include binding and glutamate binding.

UniProtKB/Swiss-Prot for CEP104 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP104 Gene

Genomics for CEP104 Gene

Regulatory Elements for CEP104 Gene

Enhancers for CEP104 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F003856 1 ENCODE 38.8 +0.1 52 2.1 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CEP104 SMIM1 DFFB
GH01F003843 0.2 Ensembl 37.7 +14.2 14187 0.4 BCOR HDAC1 RNF2 MTA2 TAL1 BHLHE40 NRF1 ZMYM3 DPF2 ARID1B CEP104 SMIM1 DFFB LRRC47
GH01F003803 0.2 Ensembl 36.9 +53.0 52999 1.2 TBP KLF1 NFRKB ZNF175 RELA ZNF316 POLR2A FOXK2 ZSCAN29 NFE2 CEP104 SMIM1 LRRC47 DFFB
GH01F003771 1.1 ENCODE 28.4 +83.1 83133 5.2 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 KLF13 SMIM1 CEP104 LRRC47 GC01P003777
GH01F003787 0.2 ENCODE 21.4 +69.6 69566 1.4 PKNOX1 TBL1XR1 EBF1 FOSL1 GATA3 EED FOS CREM ZNF687 MTA2 SMIM1 CEP104 ENSG00000272153 PIR46973
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CEP104 on UCSC Golden Path with GeneCards custom track

Promoters for CEP104 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000278677 187 2401 HDGF CREB3L1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for CEP104 Gene

Chromosome:
1
Start:
3,812,081 bp from pter
End:
3,857,387 bp from pter
Size:
45,307 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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

Protein Domains for CEP104 Gene

Suggested Antigen Peptide Sequences for CEP104 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60308

UniProtKB/Swiss-Prot:

CE104_HUMAN :
  • Contains 2 HEAT repeats.
Similarity:
  • Contains 2 HEAT repeats.
genes like me logo Genes that share domains with CEP104: view

No data available for Gene Families 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.

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

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

Animal Model Products

miRNA for CEP104 Gene

miRTarBase miRNAs that target CEP104

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for CEP104 Gene COMPARTMENTS Subcellular localization image for CEP104 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2

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

Pathways & Interactions for CEP104 Gene

SuperPathways for CEP104 Gene

No Data Available

Interacting Proteins for CEP104 Gene

Gene Ontology (GO) - Biological Process for CEP104 Gene

None

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

Transcripts for CEP104 Gene

Unigene Clusters for CEP104 Gene

Centrosomal protein 104kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CEP104

Expression for CEP104 Gene

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

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



NURSA nuclear receptor signaling pathways regulating expression of CEP104 Gene:

CEP104

SOURCE GeneReport for Unigene cluster for CEP104 Gene:

Hs.509017
genes like me logo Genes that share expression patterns with CEP104: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEP104 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP104 34 35
  • 83.42 (n)
mouse
(Mus musculus)
Mammalia Cep104 34 16 35
  • 80 (n)
cow
(Bos Taurus)
Mammalia CEP104 34 35
  • 79.93 (n)
rat
(Rattus norvegicus)
Mammalia Cep104 34
  • 79.67 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP104 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP104 34 35
  • 71.53 (n)
lizard
(Anolis carolinensis)
Reptilia CEP104 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep104 34
  • 66.38 (n)
zebrafish
(Danio rerio)
Actinopterygii cep104 34 35
  • 59.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10137 34 35
  • 45.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009750 34
  • 44.02 (n)
worm
(Caenorhabditis elegans)
Secernentea C40H1.3 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2978 35
  • 43 (a)
OneToOne
Species where no ortholog for CEP104 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CEP104 Gene

No data available for Paralogs for CEP104 Gene

Variants for CEP104 Gene

Sequence variations from dbSNP and Humsavar for CEP104 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs374574638 Pathogenic 3,844,977(+) CTCTC(A/G)AGAGG reference, stop-gained
rs869025276 Pathogenic 3,839,606(-) AAAGG(C/T)ATTGC splice-donor-variant
rs869025277 Pathogenic 3,835,081(-) GAGGC(-/T)CTATT reference, frameshift-variant
rs869025278 Pathogenic 3,816,372(-) GCTGC(A/G)GGCAT splice-acceptor-variant
rs10492942 -- 3,847,652(+) ATGTG(C/T)TGTTC intron-variant

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)

Relevant External Links 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

(3) MalaCards diseases for CEP104 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
potter's syndrome
  • potter syndrome
apraxia
  • dyspraxia
- 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.

Relevant External Links for CEP104

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP104
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 T.V. … Rosenbaum J. (J. Cell. Sci. 2013) 2 3 4 64
  2. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 2 3 4 64
  3. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (PMID: 26477546) Srour M. … Michaud J.L. (Am. J. Hum. Genet. 2015) 3 4 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. 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 64

Products for CEP104 Gene

Sources for CEP104 Gene

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