ENSG00000138778


Homo sapiens

Features
Gene ID: ENSG00000138778
  
Biological name :CENPE
  
Synonyms : CENPE / centromere protein E / Q02224
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q24
Gene start: 103105806
Gene end: 103198409
  
Corresponding Affymetrix probe sets: 205046_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483542
Ensembl peptide - ENSP00000265148
Ensembl peptide - ENSP00000369365
Ensembl peptide - ENSP00000423981
Ensembl peptide - ENSP00000426023
NCBI entrez gene - 1062     See in Manteia.
OMIM - 117143
RefSeq - XM_017007659
RefSeq - XM_011531544
RefSeq - XM_011531545
RefSeq - XM_011531546
RefSeq - XM_011531547
RefSeq - XM_011531548
RefSeq - XM_011531549
RefSeq - NM_001286734
RefSeq - NM_001813
RefSeq Peptide - NP_001273663
RefSeq Peptide - NP_001804
swissprot - D6RHK2
swissprot - D6RBW0
swissprot - Q02224
swissprot - A0A087X0P0
Ensembl - ENSG00000138778
  
Related genetic diseases (OMIM): 616051 - ?Microcephaly 13, primary, autosomal recessive, 616051
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cenpeENSDARG00000063385Danio rerio
 ENSGALG00000013208Gallus gallus
 CenpeENSMUSG00000045328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380814
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911611
KIF21B / O75037 / kinesin family member 21BENSG0000011685211
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665010
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511510
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681310
KIF4A / O95239 / kinesin family member 4AENSG0000009088910
KIF17 / Q9P2E2 / kinesin family member 17ENSG000001172459
KIF5A / Q12840 / kinesin family member 5AENSG000001559809
KIF5C / O60282 / kinesin family member 5CENSG000001682809
KIF5B / P33176 / kinesin family member 5BENSG000001707599
KIF11 / P52732 / kinesin family member 11ENSG000001381609
KIF3C / O14782 / kinesin family member 3CENSG000000847318
KIF3B / O15066 / kinesin family member 3BENSG000001013508
KIF3A / Q9Y496 / kinesin family member 3AENSG000001314378


Protein motifs (from Interpro)
Interpro ID Name
 IPR001752  Kinesin motor domain
 IPR019821  Kinesin motor domain, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027640  Kinesin-like protein
 IPR036961  Kinesin motor domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle IMP
 biological_processGO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007052 mitotic spindle organization IMP
 biological_processGO:0007059 chromosome segregation IMP
 biological_processGO:0007062 sister chromatid cohesion TAS
 biological_processGO:0007079 mitotic chromosome movement towards spindle pole IDA
 biological_processGO:0007080 mitotic metaphase plate congression TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0030071 regulation of mitotic metaphase/anaphase transition IMP
 biological_processGO:0045860 positive regulation of protein kinase activity IMP
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051310 metaphase plate congression IMP
 biological_processGO:0051315 attachment of mitotic spindle microtubules to kinetochore IMP
 biological_processGO:0051382 kinetochore assembly NAS
 biological_processGO:0099606 microtubule plus-end directed mitotic chromosome migration IDA
 biological_processGO:0099607 lateral attachment of mitotic spindle microtubules to kinetochore IMP
 cellular_componentGO:0000775 chromosome, centromeric region IEA
 cellular_componentGO:0000776 kinetochore IEA
 cellular_componentGO:0000777 condensed chromosome kinetochore IEA
 cellular_componentGO:0000779 condensed chromosome, centromeric region IDA
 cellular_componentGO:0000940 condensed chromosome outer kinetochore TAS
 cellular_componentGO:0005634 nucleus IMP
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005828 kinetochore microtubule IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex IBA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:1990023 mitotic spindle midzone IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0016887 ATPase activity IBA
 molecular_functionGO:0043515 kinetochore binding IDA


Pathways (from Reactome)
Pathway description
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
COPI-dependent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
Kinesins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000275 Narrow face 
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 HP:0000311 Round face "An unusually round appearance of the face." [HPO:curators]
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000387 Lobeless ears 
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 HP:0000444 Beaked nose 
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 HP:0000448 Prominent nose 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000682 Abnormality of dental enamel "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001338 Partial agenesis of the corpus callosum "A partial failure of the development of the corpus callosum." [HPO:curators]
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001385 Hip dysplasia 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001773 Short, broad feet "Abnormally short and wide feet." [HPO:curators]
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 HP:0001852 Gap between first and second toes "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators]
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004326 Cachexia 
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 HP:0004979 Sclerotic, widened metaphyses 
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 HP:0005692 Joint hyperflexibility 
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 HP:0007495 Prematurely aged appearance 
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 HP:0009804 Reduced number of teeth 
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 HP:0009879 Cortical gyral simplification "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators]
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 HP:0010579 Cone-shaped epiphyses 
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 HP:0011342 Mild global developmental delay "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0200055 Small hands 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138778 CENPE / Q02224 / centromere protein E  / complex / reaction






 

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