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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
External Ids for CEP350 Gene
- HGNC: 24238
- Entrez Gene: 9857
- Ensembl: ENSG00000135837
- OMIM: 617870
- UniProtKB: Q5VT06
Previous GeneCards Identifiers for CEP350 Gene
- GC01P178190
- GC01P151155
Summaries 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).
Additional gene information for CEP350 Gene
- HGNC(24238)
- Entrez Gene(9857)
- Ensembl(ENSG00000135837)
- OMIM(617870)
- UniProtKB(Q5VT06)
- Open Targets Platform(ENSG00000135837)
- Search for CEP350 at DataMed
- Search for CEP350 at HumanCyc
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:
-
- 1q25.2 by HGNC
- 1q25.2 by Entrez Gene
- 1q25.2 by Ensembl
CEP350 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for CEP350 Gene
Post-translational modifications for CEP350 Gene
- Phosphorylated during mitosis.
-
Ubiquitination at Lys250, Lys663, Lys686, Lys829, and Lys1318
- NX_Q5VT06 (NX_Q5VT06-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CEP350 Gene
Antibody Products
- G Biosciences Immunotag™ CEP350 Polyclonal Antibody
- Novus Biologicals Antibodies for CEP350
- Invitrogen Antibodies for CEP350 (AFLGC-CEP350)
-
Boster Bio Antibodies for CEP350
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CEP350
- Origene Custom Protein Services for CEP350
- Novus Biologicals proteins for CEP350
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)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25134987 |
| GO:0008017 | microtubule binding | IEA | -- |
Phenotypes for CEP350 Gene
- GenomeRNAi human phenotypes for CEP350:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CEP350 - Select products 50% OFF >
- * CEP350 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CEP350
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP350
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP350
miRNA for CEP350 Gene
- miRTarBase miRNAs that target CEP350
-
- mmu-miR-541-5p (MIRT008324)
- mmu-miR-7b-5p (MIRT009406)
- mmu-miR-26a-5p (MIRT011392)
- mmu-miR-30e-5p (MIRT013523)
- hsa-miR-19b-3p (MIRT031197)
- hsa-miR-1229-3p (MIRT036285)
- hsa-miR-19a-3p (MIRT060822)
- hsa-miR-518a-5p (MIRT060823)
- hsa-miR-527 (MIRT060824)
- hsa-miR-616-3p (MIRT060826)
- hsa-miR-1468-3p (MIRT060827)
- hsa-miR-548f-5p (MIRT060828)
- hsa-miR-548g-5p (MIRT060829)
- hsa-miR-548x-5p (MIRT060830)
- hsa-miR-4289 (MIRT060831)
- hsa-miR-548aj-5p (MIRT060832)
- hsa-miR-4698 (MIRT060833)
- hsa-miR-548aw (MIRT060835)
- hsa-miR-4426 (MIRT060841)
- hsa-miR-4647 (MIRT060843)
- hsa-miR-4662b (MIRT060844)
- hsa-miR-30a-5p (MIRT131793)
- hsa-miR-30c-5p (MIRT131794)
- hsa-miR-30d-5p (MIRT131795)
- hsa-miR-30b-5p (MIRT131796)
- hsa-miR-30e-5p (MIRT131798)
- hsa-miR-153-3p (MIRT367987)
- hsa-miR-648 (MIRT367991)
- hsa-miR-3606-5p (MIRT367993)
- hsa-miR-3658 (MIRT367994)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP350
- Browse OriGene Inhibitory RNA Products For CEP350
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP350
Clone Products
- Applied Biological Materials (abm): Clones for CEP350 - Select products 50% OFF >
- * CEP350 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Centrosome (4)
| 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 | -- |
Pathways & Interactions for CEP350 Gene
Interacting Proteins for CEP350 Gene
Selected Interacting proteins:
Q5VT06-CE350_HUMAN
ENSP00000356579
for CEP350 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CEP350
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0034453 | microtubule anchoring | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CEP350 Gene
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 :
-
- ENST00000367607 13414 nts (view in UCSC)
- ENST00000491495 1059 nts (view in UCSC)
- ENST00000357434 392 nts (view in UCSC)
- ENST00000418229 992 nts (view in UCSC)
- ENST00000490047 434 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CEP350 - Select products 50% OFF >
- * CEP350 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CEP350
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP350
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP350
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP350
- Browse OriGene Inhibitory RNA Products For CEP350
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP350
Clone Products
- Applied Biological Materials (abm): Clones for CEP350 - Select products 50% OFF >
- * CEP350 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP350
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP350
SOURCE GeneReport for Unigene cluster for CEP350 Gene:
Hs.413045mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for CEP350
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cep350 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cep350 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CEP350 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CEP350 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CEP350 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CEP350 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cep350 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-39n1.3 30 |
|
||
| CEP350 31 |
|
OneToOne | |||
| -- 30 |
|
||||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NIP100 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP350 Gene
Disorders for CEP350 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermal appendage tumor |
|
|
| seckel syndrome 7 |
|
|
| orofaciodigital syndrome ix |
|
|
| cone-rod dystrophy 20 |
|
|
| epiphyseal dysplasia, multiple, 4 |
|
|
Search CEP350 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for CEP350 Gene
Publications for CEP350 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for CEP350 Gene
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