ENSG00000155980


Homo sapiens

Features
Gene ID: ENSG00000155980
  
Biological name :KIF5A
  
Synonyms : KIF5A / kinesin family member 5A / Q12840
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.3
Gene start: 57549998
Gene end: 57586632
  
Corresponding Affymetrix probe sets: 205318_at (Human Genome U133 Plus 2.0 Array)   223933_at (Human Genome U133 Plus 2.0 Array)   229921_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000286452
Ensembl peptide - ENSP00000408979
NCBI entrez gene - 3798     See in Manteia.
OMIM - 602821
RefSeq - NM_004984
RefSeq Peptide - NP_004975
swissprot - Q12840
swissprot - J3KNA1
Ensembl - ENSG00000155980
  
Related genetic diseases (OMIM): 604187 - Spastic paraplegia 10, autosomal dominant, 604187
  617235 - Myoclonus, intractable, neonatal, 617235
  617921 - {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921
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
 kif5aaENSDARG00000098936Danio rerio
 kif5abENSDARG00000059818Danio rerio
 Kif5aENSMUSG00000074657Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF5C / O60282 / kinesin family member 5CENSG0000016828069
KIF5B / P33176 / kinesin family member 5BENSG0000017075966
KIF21B / O75037 / kinesin family member 21BENSG0000011685225
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511524
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911624
CENPE / Q02224 / centromere protein EENSG0000013877824
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681323
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665023
KIF4A / O95239 / kinesin family member 4AENSG0000009088923
KIF11 / P52732 / kinesin family member 11ENSG0000013816022
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380822
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724522
KIF3B / O15066 / kinesin family member 3BENSG0000010135021
KIF3C / O14782 / kinesin family member 3CENSG0000008473120
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143720


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:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007411 axon guidance IBA
 biological_processGO:0008104 protein localization IBA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0030705 cytoskeleton-dependent intracellular transport IBA
 biological_processGO:0098971 anterograde dendritic transport of neurotransmitter receptor complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex TAS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0032839 dendrite cytoplasm IEA
 cellular_componentGO:0035253 ciliary rootlet IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity TAS
 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:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA
 molecular_functionGO:0019894 kinesin binding IEA


Pathways (from Reactome)
Pathway description
MHC class II antigen presentation
Insulin processing
RHO GTPases activate KTN1
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:0000012 Urinary urgency 
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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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:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002064 Spastic gait 
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 HP:0002072 Chorea "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators]
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 HP:0002166 Decreased vibratory sense in the lower limbs "A decrease in the ability to perceive vibration in the legs." [HPO:curators]
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 HP:0002305 Athetosis "Athetosis (from the Greek word for changeable or unfixed ) refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002839 Sphincter disturbances (bladder) 
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 HP:0002936 Distal sensory impairment 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003577 Onset at birth 
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 HP:0003676 Progressive disorder 
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 HP:0003812 Phenotypic variability 
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 HP:0006980 Leukoencephalopathy, progressive 
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 HP:0007281 Developmental arrest 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0011448 Ankle clonus "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson]
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 HP:0011449 Knee clonus ".Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012448 Delayed myelination "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432]
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 HP:0100704 Cortical visual impairment "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000126214 KLC1 / Q07866 / kinesin light chain 1  / complex / reaction
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / complex / reaction
 ENSG00000155980 KIF5A / Q12840 / kinesin family member 5A  / reaction / complex
 ENSG00000126777 KTN1 / Q86UP2 / kinectin 1  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000174996 KLC2 / Q9H0B6 / kinesin light chain 2  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000177105 RHOG / P84095 / ras homolog family member G  / complex / reaction






 

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