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 an... See more...

Aliases for CEP350 Gene

Aliases for CEP350 Gene

  • Centrosomal Protein 350 2 3 5
  • CAP350 2 3 4
  • Centrosome-Associated Protein 350 3 4
  • Centrosomal Protein 350kDa 2 3
  • KIAA0480 2 4
  • Centrosome-Associated Protein Of 350 KDa 4
  • Centrosome Associated Protein 350 2
  • CEP350 5
  • 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. Diseases associated with CEP350 include Epidermal Appendage Tumor and Seckel Syndrome 7. Gene Ontology (GO) annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot Summary for CEP350 Gene

  • Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385).

Gene Wiki entry for CEP350 Gene

Additional gene information for CEP350 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP350 Gene

Genomics for CEP350 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP350 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 CEP350 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP350

Top Transcription factor binding sites by QIAGEN in the CEP350 gene promoter:
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU3F1
  • Roaz
  • SRY
  • STAT1
  • STAT1alpha
  • STAT1beta
  • TGIF

Genomic Locations for CEP350 Gene

Genomic Locations for CEP350 Gene
chr1:179,954,773-180,114,875
(GRCh38/hg38)
Size:
160,103 bases
Orientation:
Plus strand
chr1:179,923,873-180,084,015
(GRCh37/hg19)
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, CEP43 and MAPRE1. Interacts (via C-terminus) directly with CEP43 (via N-terminus) (PubMed:16314388, PubMed:28625565, PubMed:28428259). Interacts with NR1H3, PPARA, PPARD and PPARG (PubMed:15615782). Interacts directly with microtubules (PubMed:17878239). Interacts with the fusion protein CEP43-FGFR1, and by doing so recruits and activates PI3K and PLC-gamma (PubMed:18412956). Interacts with CYLD (PubMed:25134987). Interacts with CFAP157 (By similarity). Interacts with CEP19 (via C-terminus) (PubMed:28659385).

    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, Lys663, Lys686, Lys829, and Lys1318
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP350 Gene

Domains & Families for CEP350 Gene

Gene Families for CEP350 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CEP350 Gene

InterPro:
Blocks:
  • CAP-Gly domain
ProtoNet:

Suggested Antigen Peptide Sequences for CEP350 Gene

GenScript: Design optimal peptide antigens:
  • Centrosome-associated protein of 350 kDa (CE350_HUMAN)
  • CEP350 protein (Q05D72_HUMAN)
  • Centrosomal protein 350kDa (Q5SZ18_HUMAN)
  • Centrosomal protein 350kDa (Q5T2X2_HUMAN)
  • Centrosomal protein 350kDa (Q5T2X4_HUMAN)
genes like me logo Genes that share domains with CEP350: view

No data available for Graphical View of Domain Structure 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 (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385).

Phenotypes From GWAS Catalog for CEP350 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP350

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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Associated with mitotic spindles (PubMed:16314388). Nuclear, in discrete foci. Associated with intermediate filaments (PubMed:15615782). Also present in the pericentrosomal area (PubMed:17878239). Localizes on both mother and daughter centrioles. Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole on the subdistal appendage region (PubMed:28659385). {ECO:0000269 PubMed:15615782, ECO:0000269 PubMed:16314388, ECO:0000269 PubMed:17878239, ECO:0000269 PubMed:28625565, ECO:0000269 PubMed:28659385}.

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 3
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005814 centriole IEA,IDA 28625565
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP350: view

Pathways & Interactions for CEP350 Gene

PathCards logo

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

mRNA/cDNA for CEP350 Gene

1 REFSEQ mRNAs :
17 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 CEP350

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

Expression for CEP350 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CEP350 Gene



Protein tissue co-expression partners for CEP350 Gene

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

  • Liver(4.3)
  • Blood(4.3)
  • Nervous system(2.6)
  • Muscle(2.1)
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 30 31
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP350 30 31
  • 90.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP350 30 31
  • 89.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep350 30 17 31
  • 83.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep350 30
  • 83.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia CEP350 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP350 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP350 30 31
  • 68.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP350 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep350 30
  • 56.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-39n1.3 30
  • 53.97 (n)
CEP350 31
  • 44 (a)
OneToOne
-- 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIP100 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Species where no ortholog for CEP350 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for CEP350 Gene

ENSEMBL:
Gene Tree for CEP350 (if available)
TreeFam:
Gene Tree for CEP350 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP350: view image

Paralogs for CEP350 Gene

(3) SIMAP similar genes for CEP350 Gene using alignment to 10 proteins:

  • CE350_HUMAN
  • A2A4F6_HUMAN
  • E9PIK0_HUMAN
  • H0Y6Q4_HUMAN
  • H0Y7F7_HUMAN
  • H0YD38_HUMAN
  • L8ECF2_HUMAN
  • Q05D72_HUMAN
  • Q5T2X4_HUMAN
  • Q5T2X5_HUMAN
genes like me logo Genes that share paralogs with CEP350: view

No data available for Paralogs for CEP350 Gene

Variants for CEP350 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP350 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
720147 Likely Benign: not provided 180,043,078(+) A/G MISSENSE_VARIANT
774160 Likely Benign: not provided 180,075,169(+) A/G MISSENSE_VARIANT
789553 Benign: not provided 180,014,018(+) A/G MISSENSE_VARIANT
791823 Benign: not provided 180,094,310(+) G/C MISSENSE_VARIANT
rs16855164 -. - p.Thr1445Alap.Thr1446Ala

Additional dbSNP identifiers (rs#s) for CEP350 Gene

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)

Additional Variant Information for CEP350 Gene

Human Gene Mutation Database (HGMD)
CEP350
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

MalaCards: The human disease database

(6) MalaCards diseases for CEP350 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epidermal appendage tumor
  • neoplasm of skin with adnexal differentiation
seckel syndrome 7
  • sckl7
orofaciodigital syndrome ix
  • ofd9
cone-rod dystrophy 20
  • cord20
epiphyseal dysplasia, multiple, 4
  • edm4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP350

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CEP350: view

No data available for 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 EA (Molecular biology of the cell 2006) 2 3 4 23
  2. Centrosomal CAP350 protein stabilises microtubules associated with the Golgi complex. (PMID: 17878239) Hoppeler-Lebel A … Tassin AM (Journal of cell science 2007) 3 4 23
  3. Activity and subcellular compartmentalization of peroxisome proliferator-activated receptor alpha are altered by the centrosome-associated protein CAP350. (PMID: 15615782) Patel H … Capone JP (Journal of cell science 2005) 2 3 4
  4. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. (PMID: 28659385) Mojarad BA … Pelletier L (Open biology 2017) 3 4
  5. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4

Products for CEP350 Gene

Sources for CEP350 Gene