ENSG00000138160


Homo sapiens

Features
Gene ID: ENSG00000138160
  
Biological name :KIF11
  
Synonyms : KIF11 / kinesin family member 11 / P52732
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.33
Gene start: 92593286
Gene end: 92655395
  
Corresponding Affymetrix probe sets: 204444_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260731
NCBI entrez gene - 3832     See in Manteia.
OMIM - 148760
RefSeq - NM_004523
RefSeq Peptide - NP_004514
swissprot - P52732
Ensembl - ENSG00000138160
  
Related genetic diseases (OMIM): 152950 - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
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
 kif11ENSDARG00000010948Danio rerio
 KIF11ENSGALG00000030597Gallus gallus
 Kif11ENSMUSG00000012443Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724524
CENPE / Q02224 / centromere protein EENSG0000013877823
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143723
KIF4A / O95239 / kinesin family member 4AENSG0000009088922
KIF21B / O75037 / kinesin family member 21BENSG0000011685222
KIF3B / O15066 / kinesin family member 3BENSG0000010135022
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665022
KIF3C / O14782 / kinesin family member 3CENSG0000008473122
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911622
KIF5C / O60282 / kinesin family member 5CENSG0000016828022
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511521
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681321
KIF5A / Q12840 / kinesin family member 5AENSG0000015598021
KIF5B / P33176 / kinesin family member 5BENSG0000017075921
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380821


Protein motifs (from Interpro)
Interpro ID Name
 IPR001752  Kinesin motor domain
 IPR019821  Kinesin motor domain, conserved site
 IPR025901  Kinesin-associated microtubule-binding domain
 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 TAS
 biological_processGO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007051 spindle organization IMP
 biological_processGO:0007052 mitotic spindle organization TAS
 biological_processGO:0007059 chromosome segregation IBA
 biological_processGO:0007100 mitotic centrosome separation IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0046602 regulation of mitotic centrosome separation IMP
 biological_processGO:0051225 spindle assembly IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0090307 mitotic spindle assembly IMP
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005819 spindle TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex TAS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005876 spindle microtubule IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0072686 mitotic spindle IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003777 microtubule motor activity TAS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0044877 protein-containing complex binding IDA


Pathways (from Reactome)
Pathway description
MHC class II antigen presentation
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000179 Prominent lower lip "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators]
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 HP:0000219 Thin upper lip 
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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:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000293 Full cheeks 
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000307 Pointed chin 
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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:0000343 Long philtrum 
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 HP:0000411 Protruding ears 
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000445 Broad nose 
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 HP:0000455 Broad nasal tip 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000488 Retinopathy 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000499 Abnormality of the eyelashes "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson]
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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:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000528 Anophthalmia "Absence of a true eyeball." [HPO:curators]
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 HP:0000541 Detached retina 
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 HP:0000545 Myopia 
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 HP:0000556 Retinal dystrophy 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000572 Visual loss 
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000614 Abnormality of the lacrimal duct 
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 HP:0000618 Blindness 
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 HP:0000646 Amblyopia "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000713 Agitation 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000958 Dry skin 
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 HP:0001004 Lymphedema 
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 HP:0001055 Erysipelas 
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 HP:0001072 Thickened skin 
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 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001328 Learning disability 
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 HP:0001482 Subcutaneous nodules 
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001820 Leukonychia 
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 HP:0001909 Leukemia "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators]
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 HP:0002002 Deep philtrum 
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 HP:0002063 Rigidity 
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 HP:0002133 Status epilepticus 
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
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 HP:0003552 Muscle stiffness 
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 HP:0004936 Venous thrombosis 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005469 Occipital plagiocephaly "Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone." [HPO:curators]
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0007731 Chorioretinal dysplasia 
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 HP:0007858 Chorioretinal lacunae 
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 HP:0007973 Retinal dysplasia 
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 HP:0008388 Abnormality of the toenails 
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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:0009891 Hypoplasia of the supraorbital ridges "Underdevelopment of the supraorbital ridges." [HPO:curators]
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 HP:0010310 Chylothorax "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
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 HP:0012490 Panniculitis "Inflammation of `adipose tissue` (FMA)20110)." [HPO:probinson]
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 HP:0040189 Scaling skin "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." []
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 HP:0100644 Melanonychia 
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 HP:0100658 Cellulitis 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138160 KIF11 / P52732 / kinesin family member 11  / reaction / complex






 

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