This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich regio... See more...

Aliases for CEP43 Gene

Aliases for CEP43 Gene

  • Centrosomal Protein 43 2 3 4
  • FGFR1 Oncogene Partner 2 3 4 5
  • FGFR1OP 3 4 5
  • FOP 2 3 4
  • Fibroblast Growth Factor Receptor 1 Oncogene Partner 3

External Ids for CEP43 Gene

Previous HGNC Symbols for CEP43 Gene

  • FGFR1OP

Summaries for CEP43 Gene

Entrez Gene Summary for CEP43 Gene

  • This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

GeneCards Summary for CEP43 Gene

CEP43 (Centrosomal Protein 43) is a Protein Coding gene. Diseases associated with CEP43 include Graves' Disease and Crohn's Disease. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot Summary for CEP43 Gene

  • Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).

Gene Wiki entry for CEP43 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP43 Gene

Genomics for CEP43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP43 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 CEP43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP43

Genomic Locations for CEP43 Gene

Genomic Locations for CEP43 Gene
chr6:166,999,317-167,094,789
(GRCh38/hg38)
Size:
95,473 bases
Orientation:
Plus strand
chr6:167,412,670-167,466,201
(GRCh37/hg19)
Size:
53,532 bases
Orientation:
Plus strand

Genomic View for CEP43 Gene

Genes around CEP43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP43 Gene

Proteins for CEP43 Gene

  • Protein details for CEP43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95684-CEP43_HUMAN
    Recommended name:
    Centrosomal protein 43
    Protein Accession:
    O95684
    Secondary Accessions:
    • A8K1D1
    • B2R705
    • Q49AI0
    • Q5R3F6
    • Q96EW1

    Protein attributes for CEP43 Gene

    Size:
    399 amino acids
    Molecular mass:
    43065 Da
    Quaternary structure:
    • Homodimer (PubMed:16690081). Part of a ternary complex that contains CEP350, CEP43 and MAPRE1. Interacts directly with CEP350 and MAPRE1 (PubMed:16314388). Interacts with CEP19 (PubMed:28625565, PubMed:28428259, PubMed:28659385). Interacts (via N-terminus) with CEP350 (via C-terminus) (PubMed:28625565, PubMed:28428259).

    Three dimensional structures from OCA and Proteopedia for CEP43 Gene

    Alternative splice isoforms for CEP43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP43 Gene

Post-translational modifications for CEP43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP43 Gene

No data available for DME Specific Peptides for CEP43 Gene

Domains & Families for CEP43 Gene

Gene Families for CEP43 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CEP43 Gene

InterPro:
Blocks:
  • Lissencephaly type-1-like homology motif
ProtoNet:

Suggested Antigen Peptide Sequences for CEP43 Gene

GenScript: Design optimal peptide antigens:
  • FGFR1 oncogene partner (FR1OP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95684

UniProtKB/Swiss-Prot:

CEP43_HUMAN :
  • Belongs to the CEP43 family.
Family:
  • Belongs to the CEP43 family.
genes like me logo Genes that share domains with CEP43: view

Function for CEP43 Gene

Molecular function for CEP43 Gene

UniProtKB/Swiss-Prot Function:
Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).

Phenotypes From GWAS Catalog for CEP43 Gene

Gene Ontology (GO) - Molecular Function for CEP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 17888034
GO:0019901 protein kinase binding IPI 17888034
GO:0030292 protein tyrosine kinase inhibitor activity IDA 17888034
GO:0042803 protein homodimerization activity IDA 16690081
genes like me logo Genes that share ontologies with CEP43: view
genes like me logo Genes that share phenotypes with CEP43: view

Animal Models for CEP43 Gene

MGI Knock Outs for CEP43:
  • Cep43 Cep43<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for CEP43 Gene

miRTarBase miRNAs that target CEP43

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP43

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CEP43 Gene

Localization for CEP43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP43 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Associated with gamma-tubulin (PubMed:16314388). Localizes on both mother and daughter centrioles (PubMed:28625565, PubMed:28428259). Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole partly on the subdistal appendage region (PubMed:28659385). {ECO:0000269 PubMed:16314388, ECO:0000269 PubMed:28428259, 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 CEP43 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17888034
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 16690081
GO:0005814 centriole IDA 23554904
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP43: view

Pathways & Interactions for CEP43 Gene

genes like me logo Genes that share pathways with CEP43: view

Pathways by source for CEP43 Gene

SIGNOR curated interactions for CEP43 Gene

Activates:

Gene Ontology (GO) - Biological Process for CEP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006469 negative regulation of protein kinase activity IDA 17888034
GO:0008284 positive regulation of cell proliferation IDA 17888034
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with CEP43: view

Drugs & Compounds for CEP43 Gene

No Compound Related Data Available

Transcripts for CEP43 Gene

mRNA/cDNA for CEP43 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 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 CEP43

Alternative Splicing Database (ASD) splice patterns (SP) for CEP43 Gene

No ASD Table

Relevant External Links for CEP43 Gene

GeneLoc Exon Structure for
CEP43

Expression for CEP43 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP43

SOURCE GeneReport for Unigene cluster for CEP43 Gene:

Hs.487175

mRNA Expression by UniProt/SwissProt for CEP43 Gene:

O95684-CEP43_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas.

Evidence on tissue expression from TISSUES for CEP43 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Blood(4.4)
  • Muscle(4.2)
  • Kidney(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP43 Gene

Orthologs for CEP43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP43 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FGFR1OP 30 31
  • 99.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC683722 30
  • 87.47 (n)
Cow
(Bos Taurus)
Mammalia FGFR1OP 30 31
  • 87.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGFR1OP 30 31
  • 86.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgfr1op 30 31
  • 86.38 (n)
OneToOne
Cep43 17
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia FGFR1OP 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGFR1OP 30 31
  • 72.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGFR1OP 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgfr1op 30
  • 64.58 (n)
Str.6447 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15774 30
Zebrafish
(Danio rerio)
Actinopterygii fgfr1op 30 31
  • 60.23 (n)
OneToOne
Dr.3646 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.846 30
Species where no ortholog for CEP43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 CEP43 Gene

ENSEMBL:
Gene Tree for CEP43 (if available)
TreeFam:
Gene Tree for CEP43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP43: view image

Paralogs for CEP43 Gene

No data available for Paralogs for CEP43 Gene

Variants for CEP43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP43 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
786767 Benign: not provided 167,024,804(+) G/C MISSENSE_VARIANT
rs17856382 - p.Lys271Asn
rs34617108 - p.Ala190Gly

Additional dbSNP identifiers (rs#s) for CEP43 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP43 Gene

Variant ID Type Subtype PubMed ID
esv2182370 CNV deletion 18987734
esv2733213 CNV deletion 23290073
esv2733214 CNV deletion 23290073
esv2733215 CNV deletion 23290073
esv2733216 CNV deletion 23290073
esv2752099 CNV gain 17911159
esv3327167 CNV insertion 20981092
esv3355616 CNV duplication 20981092
nsv1124147 CNV deletion 24896259
nsv464140 CNV loss 19166990
nsv519550 CNV loss 19592680
nsv605260 CNV gain 21841781

Variation tolerance for CEP43 Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP43 Gene

Disorders for CEP43 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP43 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
graves' disease
  • toxic diffuse goiter
crohn's disease
  • ileitis
8p11 myeloproliferative syndrome
  • chromosome 8p11 myeloproliferative syndrome
myeloproliferative neoplasm
  • campomelic dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search CEP43 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP43_HUMAN
  • Note=A chromosomal aberration involving CEP43 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins CEP43-FGFR1 or FGFR1-CEP43 may exhibit constitutive kinase activity and be responsible for the transforming activity (PubMed:9949182). {ECO:0000269 PubMed:9949182}.
genes like me logo Genes that share disorders with CEP43: view

No data available for Genatlas for CEP43 Gene

Publications for CEP43 Gene

  1. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. (PMID: 9949182) Popovici C … Pébusque MJ (Blood 1999) 2 3 4 23
  2. 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) 3 4 23
  3. Structure of the N-terminal domain of the FOP (FGFR1OP) protein and implications for its dimerization and centrosomal localization. (PMID: 16690081) Mikolajka A … Holak TA (Journal of molecular biology 2006) 3 4 23
  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 CEP43 Gene

  • Boster Bio Antibodies for CEP43
  • Boster Bio ELISA Kits for CEP43
  • Signalway Proteins for CEP43

Sources for CEP43 Gene