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Aliases for CNTRL Gene

Aliases for CNTRL Gene

  • Centriolin 2 3 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
  • 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 eosinophilia and 8p11 myeloproliferative syndrome. Among its related pathways are Infectious disease and Cell Cycle, Mitotic. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is DRC3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTRL Gene

Genomics for CNTRL Gene

Regulatory Elements for CNTRL Gene

Promoters for CNTRL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNTRL on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTRL Gene

Chromosome:
9
Start:
121,074,863 bp from pter
End:
121,177,610 bp from pter
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=Translation N-terminally extended.; 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

Proteomics data for CNTRL Gene at MOPED

Post-translational modifications for CNTRL Gene

  • Ubiquitination at Lys 101 and Lys 1170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNTRL Gene

Domains & Families for CNTRL Gene

Protein Domains for CNTRL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTRL Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z7A1

UniProtKB/Swiss-Prot:

CNTRL_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 4 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 4 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with CNTRL: view

No data available for Gene Families 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.

Gene Ontology (GO) - Molecular Function for CNTRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
genes like me logo Genes that share ontologies with CNTRL: view
genes like me logo Genes that share phenotypes with CNTRL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CNTRL

miRNA for CNTRL Gene

miRTarBase miRNAs that target 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. Note=During cytokinesis, localizes to a ring-like structure at the central midbody.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTRL Gene COMPARTMENTS Subcellular localization image for CNTRL gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for CNTRL Gene

Pathways & Interactions for CNTRL Gene

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

Pathways by source for CNTRL Gene

SIGNOR curated interactions for CNTRL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CNTRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0051301 cell division 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

Unigene Clusters for CNTRL Gene

Centriolin:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CNTRL

Expression for CNTRL Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CNTRL Gene



SOURCE GeneReport for Unigene cluster for CNTRL Gene Hs.653263

mRNA Expression by UniProt/SwissProt for CNTRL Gene

Q7Z7A1-CNTRL_HUMAN
Tissue specificity: Highly expressed in testis and trachea.
genes like me logo Genes that share expression patterns with CNTRL: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CNTRL 35
  • 86.45 (n)
  • 85.04 (a)
CNTRL 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTRL 35
  • 86.83 (n)
  • 85.36 (a)
CNTRL 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep110 35
  • 82.88 (n)
  • 81.31 (a)
Cntrl 16
Cep110 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP110 35
  • 99.66 (n)
  • 99.44 (a)
CEP110 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntrl 35
  • 82.35 (n)
  • 80.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTRL 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTRL 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTRL 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cntrl 35
  • 61.19 (n)
  • 56.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6532 35
zebrafish
(Danio rerio)
Actinopterygii LOC100334259 35
  • 52.47 (n)
  • 42 (a)
CU856237.1 36
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for CNTRL:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CNTRL Gene

Paralogs for CNTRL Gene

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

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

Variants for CNTRL Gene

Sequence variations from dbSNP and Humsavar for CNTRL Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10818503 - 121,088,492(+) AGCAA(A/G)TTGAG upstream-variant-2KB, reference, missense
rs10818504 - 121,098,411(+) GAAAC(C/T)GCTTC reference, missense
rs17292952 - 121,141,562(+) GGCAG(A/G)CCTGT reference, missense, utr-variant-5-prime
rs35342437 - 121,146,233(+) ACTTT(A/G)TGCCA reference, missense
rs734177 -- 121,169,136(-) GTTCA(A/G)TTGGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2656882 CNV Deletion 23128226
esv23303 CNV Loss 19812545
esv2738999 CNV Deletion 23290073
esv2671048 CNV Deletion 23128226
esv1148139 CNV Deletion 17803354
nsv825071 CNV Loss 20364138
esv2675601 CNV Deletion 23128226

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)

Relevant External Links for CNTRL Gene

HapMap Linkage Disequilibrium report
CNTRL

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

Disorders for CNTRL Gene

MalaCards: The human disease database

(2) MalaCards diseases for CNTRL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
eosinophilia
  • eosinophil count raised
8p11 myeloproliferative syndrome
  • chromosome 8p11 myeloproliferative syndrome
- 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.

Relevant External Links for CNTRL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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. … Pebusque M.-J. (Blood 2000) 2 3 4 67
  2. Centriolin anchoring of exocyst and SNARE complexes at the midbody is required for secretory-vesicle-mediated abscission. (PMID: 16213214) Gromley A. … Doxsey S.J. (Cell 2005) 3 23
  3. 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.J. (J. Cell Biol. 2003) 3 23
  4. Dysregulated signaling pathways in the development of CNTRL-FGFR1-induced myeloid and lymphoid malignancies associated with FGFR1 in human and mouse models. (PMID: 23777766) Ren M. … Cowell J.K. (Blood 2013) 3
  5. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy R.B. … Poland G.A. (Hum. Genet. 2012) 3

Products for CNTRL Gene

Sources for CNTRL Gene

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