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Aliases for CEP350 Gene

Aliases for CEP350 Gene

  • Centrosomal Protein 350 2 3 5
  • Centrosomal Protein 350kDa 2 3
  • CAP350 3 4
  • Centrosome-Associated Protein Of 350 KDa 4
  • Centrosome Associated Protein 350 2
  • Centrosome-Associated Protein 350 3
  • KIAA0480 4
  • Cep350 4
  • GM133 3

External Ids for CEP350 Gene

Previous GeneCards Identifiers for CEP350 Gene

  • GC01P178190
  • GC01P151155

Summaries for CEP350 Gene

Entrez Gene Summary for CEP350 Gene

  • The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEP350 Gene

CEP350 (Centrosomal Protein 350) is a Protein Coding gene. GO annotations related to this gene include microtubule binding. An important paralog of this gene is CLIP1.

UniProtKB/Swiss-Prot for CEP350 Gene

  • Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity.

Gene Wiki entry for CEP350 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP350 Gene

Genomics for CEP350 Gene

Regulatory Elements for CEP350 Gene

Enhancers for CEP350 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
GH01G180150 2 FANTOM5 Ensembl ENCODE dbSUPER 2 +200.1 200110 8.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 QSOX1 ACBD6 KIAA1614 ENSG00000261831 AXDND1 ENSG00000260360 TOR1AIP1 CEP350 PIR57354
GH01G180026 1 FANTOM5 ENCODE 1.9 +72.8 72760 2.5 JUN YY1 ZNF316 RELB FOS MAFK CREM SCRT1 JUNB CEBPB TOR1AIP1 TOR1AIP2 ENSG00000261831 CEP350 RPS24P5 ENSG00000261817
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEP350 on UCSC Golden Path with GeneCards custom track

Promoters for CEP350 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016498 662 3201 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21

Genomic Location for CEP350 Gene

Chromosome:
1
Start:
179,954,738 bp from pter
End:
180,114,880 bp from pter
Size:
160,143 bases
Orientation:
Plus strand

Genomic View for CEP350 Gene

Genes around CEP350 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP350 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP350 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP350 Gene

Proteins for CEP350 Gene

  • Protein details for CEP350 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VT06-CE350_HUMAN
    Recommended name:
    Centrosome-associated protein 350
    Protein Accession:
    Q5VT06
    Secondary Accessions:
    • O75068
    • Q8TDK3
    • Q8WY20

    Protein attributes for CEP350 Gene

    Size:
    3117 amino acids
    Molecular mass:
    350930 Da
    Quaternary structure:
    • Part of a ternary complex that contains CEP350, FGFR1OP and MAPRE1. Interacts directly with FGFR1OP via its C-terminus. Interacts with NR1H3, PPARA, PPARD and PPARG. Interacts directly with microtubules. Interacts with the fusion protein FGFR1OP-FGFR1, and by doing so recruits and activates PI3K and PLC-gamma. Interacts with CYLD (PubMed:25134987).

    Three dimensional structures from OCA and Proteopedia for CEP350 Gene

neXtProt entry for CEP350 Gene

Post-translational modifications for CEP350 Gene

  • Phosphorylated during mitosis.
  • Ubiquitination at Lys250, posLast=663663, Lys686, Lys829, and posLast=13181318
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP350 Gene

Domains & Families for CEP350 Gene

Protein Domains for CEP350 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP350: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CEP350 Gene

Function for CEP350 Gene

Molecular function for CEP350 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity.

Gene Ontology (GO) - Molecular Function for CEP350 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25134987
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with CEP350: view

Phenotypes for CEP350 Gene

genes like me logo Genes that share phenotypes with CEP350: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP350 Gene

Localization for CEP350 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP350 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Associated with mitotic spindles. Nuclear, in discrete foci. Associated with intermediate filaments. Also present in the pericentrosomal area. {ECO:0000269 PubMed:15615782, ECO:0000269 PubMed:16314388, ECO:0000269 PubMed:17878239}.

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 CEP350 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CEP350 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with CEP350: view

Pathways & Interactions for CEP350 Gene

SuperPathways for CEP350 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP350 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034453 microtubule anchoring IEA --
genes like me logo Genes that share ontologies with CEP350: view

No data available for Pathways by source and SIGNOR curated interactions for CEP350 Gene

Drugs & Compounds for CEP350 Gene

No Compound Related Data Available

Transcripts for CEP350 Gene

Unigene Clusters for CEP350 Gene

Centrosomal protein 350kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP350 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:
SP2: - - - - - - - - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b · 34c · 34d ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^
SP1: - - - - - - -
SP2: -
SP3: - - - - - -
SP4:
SP5:
SP6: -
SP7: -
SP8: - -
SP9:
SP10: -
SP11:

ExUns: 41 ^ 42 ^ 43 ^ 44 ^ 45
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CEP350 Gene

GeneLoc Exon Structure for
CEP350
ECgene alternative splicing isoforms for
CEP350

Expression for CEP350 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP350 Gene

Protein differential expression in normal tissues from HIPED for CEP350 Gene

This gene is overexpressed in Fetal gut (22.9), NK cells (10.2), Fetal heart (9.3), and Blymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP350 Gene



Protein tissue co-expression partners for CEP350 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP350 Gene:

CEP350

SOURCE GeneReport for Unigene cluster for CEP350 Gene:

Hs.413045

mRNA Expression by UniProt/SwissProt for CEP350 Gene:

Q5VT06-CE350_HUMAN
Tissue specificity: Detected in heart, brain, skeletal muscle, testis, placenta, lung, liver, kidney and pancreas.

Evidence on tissue expression from TISSUES for CEP350 Gene

  • Blood(4.2)
  • Liver(4.2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with CEP350: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP350 Gene

Orthologs for CEP350 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CEP350 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP350 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia CEP350 34 35
  • 90.69 (n)
cow
(Bos Taurus)
Mammalia CEP350 34 35
  • 89.64 (n)
mouse
(Mus musculus)
Mammalia Cep350 34 16 35
  • 83.4 (n)
rat
(Rattus norvegicus)
Mammalia Cep350 34
  • 83.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP350 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP350 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP350 34 35
  • 68.9 (n)
lizard
(Anolis carolinensis)
Reptilia CEP350 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep350 34
  • 56.88 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-39n1.3 34
  • 53.97 (n)
CEP350 35
  • 44 (a)
OneToOne
-- 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIP100 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
Species where no ortholog for CEP350 was found in the sources mined by GeneCards:
  • 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)
  • 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 CEP350 Gene

ENSEMBL:
Gene Tree for CEP350 (if available)
TreeFam:
Gene Tree for CEP350 (if available)

Paralogs for CEP350 Gene

Paralogs for CEP350 Gene

genes like me logo Genes that share paralogs with CEP350: view

Variants for CEP350 Gene

Sequence variations from dbSNP and Humsavar for CEP350 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000017931 -- 179,969,988(+) AAATT(A/C)ATTTA intron-variant
rs1000049914 -- 180,023,128(+) TGCCT(A/G)CCTCA intron-variant
rs1000087497 -- 179,977,028(+) TTGTA(C/T)TTTTC intron-variant
rs1000154786 -- 179,999,623(+) CAAAA(C/G)ATGAG intron-variant
rs1000165468 -- 179,963,698(+) ACAGA(C/T)GTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP350 Gene

Variant ID Type Subtype PubMed ID
dgv656n54 CNV loss 21841781
esv3588061 CNV loss 21293372
nsv1000698 CNV loss 25217958
nsv3755 CNV deletion 18451855
nsv466228 CNV loss 19166990
nsv478740 CNV novel sequence insertion 20440878
nsv520278 CNV gain 19592680
nsv520322 CNV loss 19592680
nsv946526 CNV duplication 23825009
nsv952274 CNV duplication 24416366

Variation tolerance for CEP350 Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.06; 87.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP350 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP350

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP350 Gene

Disorders for CEP350 Gene

Relevant External Links for CEP350

Genetic Association Database (GAD)
CEP350
Human Genome Epidemiology (HuGE) Navigator
CEP350
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP350

No disorders were found for CEP350 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP350 Gene

Publications for CEP350 Gene

  1. A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring. (PMID: 16314388) Yan X. … Nigg E.A. (Mol. Biol. Cell 2006) 2 3 4 22 64
  2. Centrosomal CAP350 protein stabilises microtubules associated with the Golgi complex. (PMID: 17878239) Hoppeler-Lebel A. … Tassin A.-M. (J. Cell Sci. 2007) 3 4 22 64
  3. Activity and subcellular compartmentalization of peroxisome proliferator-activated receptor alpha are altered by the centrosome- associated protein CAP350. (PMID: 15615782) Patel H. … Capone J.P. (J. Cell Sci. 2005) 2 3 4 64
  4. The deubiquitinating enzyme CYLD controls apical docking of basal bodies in ciliated epithelial cells. (PMID: 25134987) Eguether T. … Tassin A.M. (Nat. Commun. 2014) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CEP350 Gene

Sources for CEP350 Gene

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