CEP44 Gene (Protein Coding)

Centrosomal Protein 44

GC04P174283
GIFtS:
33
See more...

Aliases for CEP44 Gene

Aliases for CEP44 Gene

  • Centrosomal Protein 44 2 3 5
  • KIAA1712 2 3 4
  • HBV PreS1-Transactivated Protein 3 3 4
  • Centrosomal Protein Of 44 KDa 3 4
  • Centrosomal Protein 44kDa 2 3
  • PS1TP3 3 4
  • CEP44 5
  • Cep44 4

External Ids for CEP44 Gene

Previous HGNC Symbols for CEP44 Gene

  • KIAA1712

Previous GeneCards Identifiers for CEP44 Gene

  • GC04P175205

Summaries for CEP44 Gene

GeneCards Summary for CEP44 Gene

CEP44 (Centrosomal Protein 44) is a Protein Coding gene. Diseases associated with CEP44 include Retinitis Pigmentosa 29.

UniProtKB/Swiss-Prot Summary for CEP44 Gene

  • Centriole-enriched microtubule-binding protein involved in centriole biogenesis. In collaboration with CEP295 and POC1B, is required for the centriole-to-centrosome conversion by ensuring the formation of bona fide centriole wall (PubMed:32060285). Functions as a linker component that maintains centrosome cohesion. Associates with CROCC and regulates its stability and localization to the centrosome (PubMed:31974111).

Additional gene information for CEP44 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP44 Gene

Genomics for CEP44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CEP44 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J174282 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 289.2 -0.1 -76 4 TBP SP1 CEBPA MNT IKZF1 SMAD5 HES1 MBD2 ZNF217 POLR2A CEP44 FBXO8 lnc-HPGD-5 HAND2
GH04J173332 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 33.4 -949.8 -949770 5.8 CHD2 ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 HES1 MBD2 HMGB2 LOC105377541 lnc-SAP30-1-001 SAP30 CEP44 SCRG1 GALNT7 ENSG00000248774 lnc-GALNT7-1
GH04J174423 Promoter/Enhancer 1.2 Ensembl ENCODE 20.8 +139.9 139862 1.1 IKZF1 BHLHE40 CEBPB ARNT ZNF395 VEZF1 NBN EP300 TAL1 TAF9B MIR4276 CEP44 FBXO8 ENSG00000261646 LINC02268 HSALNG0038644 lnc-HPGD-2 piR-48049-063 HPGD
GH04J174120 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -163.4 -163376 1 MNT IKZF1 HES1 CTCF BHLHE40 MCM3 REST NBN TRIM22 SMC3 LINC02268 CEP44 HMGB2 ENSG00000261646 HAND2-AS1 lnc-CEP44-2 LOC107986204 HSALNG0038627 FBXO8 lnc-CEP44-7
GH04J174314 Enhancer 0.7 Ensembl 30.5 +31.3 31324 0.4 MNT MAFF ZNF316 FOSL1 NFE2 MAFK FOXK2 EHMT2 JUND FOXM1 CEP44 HSALNG0038636 lnc-FBXO8-7 piR-43583-428 HPGD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP44

Genomic Locations for CEP44 Gene

Latest Assembly
chr4:174,283,677-174,334,355
(GRCh38/hg38)
Size:
50,679 bases
Orientation:
Plus strand

Previous Assembly
chr4:175,205,062-175,254,532
(GRCh37/hg19 by Entrez Gene)
Size:
49,471 bases
Orientation:
Plus strand

chr4:175,204,828-175,254,531
(GRCh37/hg19 by Ensembl)
Size:
49,704 bases
Orientation:
Plus strand

Genomic View for CEP44 Gene

Genes around CEP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP44 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CEP44 Gene

Proteins for CEP44 Gene

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  • Protein details for CEP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0F1-CEP44_HUMAN
    Recommended name:
    Centrosomal protein of 44 kDa
    Protein Accession:
    Q9C0F1
    Secondary Accessions:
    • A8K8W9
    • A8MW11
    • B3KT53
    • D3DP42
    • Q8IXZ4

    Protein attributes for CEP44 Gene

    Size:
    390 amino acids
    Molecular mass:
    44140 Da
    Quaternary structure:
    • Interacts with CROCC (PubMed:31974111). Interacts with POC1B; the interaction is direct and recruits POC1B to centriolar microtubules (PubMed:32060285). Binds to centriolar microtubules (PubMed:32060285).
    SequenceCaution:
    • Sequence=BAB21803.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP44 Gene

Protein Expression for CEP44 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CEP44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP44 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CEP44 Gene

Domains & Families for CEP44 Gene

Gene Families for CEP44 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP44 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP44 Gene

GenScript: Design optimal peptide antigens:
  • HBV PreS1-transactivated protein 3 (CEP44_HUMAN)
genes like me logo Genes that share domains with CEP44: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP44 Gene

Function for CEP44 Gene

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  2. CRISPR products for research
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  6. Cell Lines for research

Molecular function for CEP44 Gene

UniProtKB/Swiss-Prot Function:
Centriole-enriched microtubule-binding protein involved in centriole biogenesis. In collaboration with CEP295 and POC1B, is required for the centriole-to-centrosome conversion by ensuring the formation of bona fide centriole wall (PubMed:32060285). Functions as a linker component that maintains centrosome cohesion. Associates with CROCC and regulates its stability and localization to the centrosome (PubMed:31974111).

Phenotypes From GWAS Catalog for CEP44 Gene

Gene Ontology (GO) - Molecular Function for CEP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008017 microtubule binding IDA 32060285
genes like me logo Genes that share ontologies with CEP44: view
genes like me logo Genes that share phenotypes with CEP44: view

Animal Models for research

miRNA for CEP44 Gene

miRTarBase miRNAs that target CEP44

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP44

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP44 Gene

Localization for CEP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP44 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Midbody. Note=Localizes to the proximal end of mother and daughter centrioles. {ECO:0000269 PubMed:31974111, ECO:0000269 PubMed:32060285}.

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 CEP44 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for CEP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IBA,IDA 21399614
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA,IDA 21399614
GO:0005814 centriole IEA,IDA 32060285
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP44: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP44 Gene

Pathways & Interactions for CEP44 Gene

PathCards logo

SuperPathways for CEP44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007098 centrosome cycle IMP 31974111
GO:0007099 centriole replication IDA 32060285
GO:0010457 centriole-centriole cohesion IMP 31974111
genes like me logo Genes that share ontologies with CEP44: view

No data available for Pathways by source and SIGNOR curated interactions for CEP44 Gene

Drugs & Compounds for CEP44 Gene

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No Compound Related Data Available

Transcripts for CEP44 Gene

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mRNA/cDNA for CEP44 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP44

Alternative Splicing Database (ASD) splice patterns (SP) for CEP44 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2:

Relevant External Links for CEP44 Gene

GeneLoc Exon Structure for
CEP44

Expression for CEP44 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP44 Gene

mRNA expression in normal human tissues for CEP44 Gene
mRNA expression by GTEx for CEP44 GenemRNA expression by BioGPS for CEP44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP44 Gene

This gene is overexpressed in Testis (19.3), Pancreas (12.2), and Heart (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP44 Gene



Protein tissue co-expression partners for CEP44 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP44

SOURCE GeneReport for Unigene cluster for CEP44 Gene:

Hs.555989

Evidence on tissue expression from TISSUES for CEP44 Gene

  • Nervous system(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CEP44: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP44 Gene

Orthologs for CEP44 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CEP44 30 31
  • 99.4 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CEP44 30 31
  • 88.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CEP44 30 31
  • 86.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cep44 30
  • 77.63 (n)
Mouse
(Mus musculus)
 Mammalia Cep44 30 17 31
  • 76.17 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CEP44 31
  • 49 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CEP44 31
  • 48 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CEP44 30 31
  • 64.34 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CEP44 31
  • 35 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cep44 30
  • 56.63 (n)
Str.9363 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25493 30
Zebrafish
(Danio rerio)
 Actinopterygii cep44 30 31
  • 52.29 (n)
 OneToOne
Species where no ortholog for CEP44 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)
  • 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 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 CEP44 Gene

ENSEMBL:
Gene Tree for CEP44 (if available)
TreeFam:
Gene Tree for CEP44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP44: view image

Paralogs for CEP44 Gene

No data available for Paralogs for CEP44 Gene

Variants for CEP44 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP44 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs4695918 - p.Gly147Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CEP44 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CEP44 Gene

Variant ID Type Subtype PubMed ID
esv1066081 CNV insertion 17803354
esv1614926 CNV insertion 17803354
esv995918 CNV insertion 20482838
nsv509025 CNV insertion 20534489
nsv510928 OTHER complex 20534489
nsv596234 CNV gain 21841781

Variation tolerance for CEP44 Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP44

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP44 Gene

Disorders for CEP44 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP44 Gene - From: COP

Disorder Aliases PubMed IDs
retinitis pigmentosa 29
  • rp29
- elite association - COSMIC cancer census association via MalaCards
Search CEP44 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CEP44

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CEP44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP44 Gene

Publications for CEP44 Gene

  1. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 2 3 4
  2. CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion. (PMID: 32060285) Atorino ES … Schiebel E (Nature communications 2020) 3 4
  3. Cep44 functions in centrosome cohesion by stabilizing rootletin. (PMID: 31974111) Hossain D … Tsang WY (Journal of cell science 2020) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4

ExternalLinks

View latest publications for CEP44 gene in Mastermind

Products for CEP44 Gene

Sources for CEP44 Gene