This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 an... See more...

Aliases for CNTRL Gene

Aliases for CNTRL Gene

  • Centriolin 2 3 4 5
  • Centrosomal Protein Of 110 KDa 3 4
  • Centrosomal Protein 110kDa 2 3
  • Centrosomal Protein 1 2 4
  • CEP110 3 4
  • CEP1 3 4
  • BA165P4.1 (Ortholog Of Mouse Ma2a8) 3
  • BA165P4.2 (Centrosomal Protein 1) 3
  • Centriole Associated Protein 3
  • 110 KDa Centrosomal Protein 3
  • BA165P4.1 3
  • Cep110 4
  • CNTRL 5
  • FAN 3

External Ids for CNTRL Gene

Previous HGNC Symbols for CNTRL Gene

  • CEP1
  • CEP110

Previous GeneCards Identifiers for CNTRL Gene

  • GC09P123839

Summaries for CNTRL Gene

Entrez Gene Summary for CNTRL Gene

  • This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNTRL Gene

CNTRL (Centriolin) is a Protein Coding gene. Diseases associated with CNTRL include 8P11 Myeloproliferative Syndrome and Joubert Syndrome 1. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include nucleotide binding.

UniProtKB/Swiss-Prot Summary for CNTRL Gene

  • Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.

Gene Wiki entry for CNTRL Gene

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

Genomics for CNTRL Gene

GeneHancer (GH) Regulatory Elements Pubs

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

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

Genomic Locations for CNTRL Gene

Latest Assembly
chr9:121,074,753-121,177,610
(GRCh38/hg38)
Size:
102,858 bases
Orientation:
Plus strand

Previous Assembly
chr9:123,837,233-123,939,888
(GRCh37/hg19 by Entrez Gene)
Size:
102,656 bases
Orientation:
Plus strand

chr9:123,837,141-123,939,888
(GRCh37/hg19 by Ensembl)
Size:
102,748 bases
Orientation:
Plus strand

Genomic View for CNTRL Gene

Genes around CNTRL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CNTRL Gene

Proteins for CNTRL Gene

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

    Protein Symbol:
    Q7Z7A1-CNTRL_HUMAN
    Recommended name:
    Centriolin
    Protein Accession:
    Q7Z7A1
    Secondary Accessions:
    • A2A2Y1
    • B2RP67
    • Q3MN79
    • Q5FWF8
    • Q5JVD0
    • Q6MZR3
    • Q6PKC1
    • Q8TEP3
    • Q9Y489

    Protein attributes for CNTRL Gene

    Size:
    2325 amino acids
    Molecular mass:
    268886 Da
    Quaternary structure:
    • Interacts with HOOK2. Interacts with EXOC6 and SNAPIN. Associates with the exocyst complex.
    SequenceCaution:
    • Sequence=AAH02932.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH02932.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH89415.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTRL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTRL Gene

Post-translational modifications for CNTRL Gene

  • Ubiquitination at Lys101 and Lys1170
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for CNTRL
  • Boster Bio Antibodies for CNTRL

No data available for DME Specific Peptides for CNTRL Gene

Domains & Families for CNTRL Gene

Gene Families for CNTRL Gene

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

Protein Domains for CNTRL Gene

Suggested Antigen Peptide Sequences for CNTRL Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein 110kDa (B2RP65_HUMAN)
  • Centrosomal protein of 110 kDa (CNTRL_HUMAN)
genes like me logo Genes that share domains with CNTRL: view

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

Function for CNTRL Gene

Molecular function for CNTRL Gene

UniProtKB/Swiss-Prot Function:
Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.

Phenotypes From GWAS Catalog for CNTRL Gene

Gene Ontology (GO) - Molecular Function for CNTRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17140400
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with CNTRL: view
genes like me logo Genes that share phenotypes with CNTRL: view

miRNA for CNTRL Gene

miRTarBase miRNAs that target CNTRL

Inhibitory RNAs for research

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

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

Localization for CNTRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTRL Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody, Midbody ring.

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 CNTRL gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
plasma membrane 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNTRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 15337773
GO:0005815 microtubule organizing center IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CNTRL: view

Pathways & Interactions for CNTRL Gene

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

SIGNOR curated interactions for CNTRL Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CNTRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0001822 kidney development IEA --
GO:0003279 cardiac septum development IEA --
GO:0003281 ventricular septum development IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with CNTRL: view

Drugs & Compounds for CNTRL Gene

No Compound Related Data Available

Transcripts for CNTRL Gene

mRNA/cDNA for CNTRL Gene

7 REFSEQ mRNAs :
23 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 CNTRL

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^
SP1: - - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - -
SP6:
SP7:

ExUns: 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CNTRL Gene

GeneLoc Exon Structure for
CNTRL

Expression for CNTRL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTRL Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for CNTRL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5), Plasma (10.7), Lymph node (7.3), and Esophagus (7.1).

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



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

SOURCE GeneReport for Unigene cluster for CNTRL Gene:

Hs.653263

mRNA Expression by UniProt/SwissProt for CNTRL Gene:

Q7Z7A1-CNTRL_HUMAN
Tissue specificity: Widely expressed with highest levels in testis and trachea.

Evidence on tissue expression from TISSUES for CNTRL Gene

  • Blood(4.5)
  • Spleen(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with CNTRL: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTRL Gene

Orthologs for CNTRL Gene

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

Orthologs for CNTRL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CEP110 29 30
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNTRL 29 30
  • 86.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNTRL 29 30
  • 86.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep110 29 30
  • 82.88 (n)
OneToOne
Cntrl 16
Rat
(Rattus norvegicus)
Mammalia Cntrl 29
  • 82.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CNTRL 30
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNTRL 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNTRL 30
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 67 (a)
OneToMany
-- 30
  • 57 (a)
OneToMany
-- 30
  • 49 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cntrl 29
  • 61.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6532 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100334259 29
  • 52.47 (n)
CU856237.1 30
  • 32 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 30
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToOne
Species where no ortholog for CNTRL 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)
  • 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 CNTRL Gene

ENSEMBL:
Gene Tree for CNTRL (if available)
TreeFam:
Gene Tree for CNTRL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNTRL: view image
Alliance of Genome Resources:
Additional Orthologs for CNTRL

Paralogs for CNTRL Gene

(3) SIMAP similar genes for CNTRL Gene using alignment to 7 proteins:

  • CNTRL_HUMAN
  • Q5JVD1_HUMAN
  • Q5JVD2_HUMAN
  • Q5JVD3_HUMAN
  • Q5JVD5_HUMAN
  • Q5JVD6_HUMAN
  • Q8WX70_HUMAN
genes like me logo Genes that share paralogs with CNTRL: view

No data available for Paralogs for CNTRL Gene

Variants for CNTRL Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs117390062 Benign: not provided 121,090,387(+) C/T
NM_007018.5(CNTRL):c.330C>T (p.Asp110=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs143362843 Benign: not provided 121,098,418(+) A/G
NM_007018.5(CNTRL):c.654A>G (p.Gln218=)
SYNONYMOUS
rs144086611 Benign: not provided 121,157,844(+) A/C
NM_007018.5(CNTRL):c.4601A>C (p.Gln1534Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs144178223 Likely Benign: not provided 121,118,512(+) A/T
NM_007018.5(CNTRL):c.1622A>T (p.Asp541Val)
MISSENSE
rs144738756 Likely Benign: not provided 121,154,867(+) G/C
NM_007018.5(CNTRL):c.4319G>C (p.Arg1440Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

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

Variant ID Type Subtype PubMed ID
esv1148139 CNV deletion 17803354
esv23303 CNV loss 19812545
esv2656882 CNV deletion 23128226
esv2671048 CNV deletion 23128226
esv2675601 CNV deletion 23128226
esv2738999 CNV deletion 23290073
esv3545409 CNV deletion 23714750
esv3621659 CNV loss 21293372
esv3621660 CNV loss 21293372
nsv1076202 CNV deletion 25765185
nsv825071 CNV loss 20364138
nsv956112 CNV deletion 24416366

Variation tolerance for CNTRL Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.83; 96.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNTRL Gene

Human Gene Mutation Database (HGMD)
CNTRL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTRL
Leiden Open Variation Database (LOVD)
CNTRL

SNP Genotyping and Copy Number Assays for research

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

Disorders for CNTRL Gene

MalaCards: The human disease database

(3) MalaCards diseases for CNTRL Gene - From: COP and GCD

Disorder Aliases PubMed IDs
8p11 myeloproliferative syndrome
  • 8p11 stem cell leukemia/lymphoma syndrome
joubert syndrome 1
  • jbts1
primary autosomal recessive microcephaly
  • mcph
- elite association - COSMIC cancer census association via MalaCards
Search CNTRL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNTRL_HUMAN
  • Note=A chromosomal aberration involving CEP110 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) 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 protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.

Additional Disease Information for CNTRL

genes like me logo Genes that share disorders with CNTRL: view

No data available for Genatlas for CNTRL Gene

Publications for CNTRL Gene

  1. Centriolin anchoring of exocyst and SNARE complexes at the midbody is required for secretory-vesicle-mediated abscission. (PMID: 16213214) Gromley A … Doxsey SJ (Cell 2005) 3 4 22
  2. A novel human protein of the maternal centriole is required for the final stages of cytokinesis and entry into S phase. (PMID: 12732615) Gromley A … Doxsey S (The Journal of cell biology 2003) 3 4 22
  3. FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). (PMID: 10688839) Guasch G … Pébusque MJ (Blood 2000) 2 3 4
  4. Hook2 localizes to the centrosome, binds directly to centriolin/CEP110 and contributes to centrosomal function. (PMID: 17140400) Szebenyi G … Krämer H (Traffic (Copenhagen, Denmark) 2007) 3 4
  5. Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. (PMID: 16112646) Guinn BA … Mufti GJ (Biochemical and biophysical research communications 2005) 3 4

Products for CNTRL Gene

Sources for CNTRL Gene