ENSG00000168280


Homo sapiens

Features
Gene ID: ENSG00000168280
  
Biological name :KIF5C
  
Synonyms : KIF5C / kinesin family member 5C / O60282
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q23.1
Gene start: 148875250
Gene end: 149026759
  
Corresponding Affymetrix probe sets: 1557089_at (Human Genome U133 Plus 2.0 Array)   203129_s_at (Human Genome U133 Plus 2.0 Array)   203130_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000393379
Ensembl peptide - ENSP00000393270
NCBI entrez gene - 3800     See in Manteia.
OMIM - 604593
RefSeq - XM_017004062
RefSeq - NM_004522
RefSeq - XM_011511157
RefSeq Peptide - NP_004513
swissprot - O60282
swissprot - C9JWB9
Ensembl - ENSG00000168280
  
Related genetic diseases (OMIM): 615282 - Cortical dysplasia, complex, with other brain malformations 2, 615282
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
 kif5cENSDARG00000076027Danio rerio
 KIF5CENSGALG00000012462Gallus gallus
 Kif5cENSMUSG00000026764Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF5A / Q12840 / kinesin family member 5AENSG0000015598075
KIF5B / P33176 / kinesin family member 5BENSG0000017075975
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911626
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511525
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681325
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665025
CENPE / Q02224 / centromere protein EENSG0000013877825
KIF21B / O75037 / kinesin family member 21BENSG0000011685225
KIF4A / O95239 / kinesin family member 4AENSG0000009088925
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380824
KIF11 / P52732 / kinesin family member 11ENSG0000013816024
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724523
KIF3B / O15066 / kinesin family member 3BENSG0000010135022
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143721
KIF3C / O14782 / kinesin family member 3CENSG0000008473121


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:0006996 organelle organization TAS
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007411 axon guidance IBA
 biological_processGO:0008045 motor neuron axon guidance IEA
 biological_processGO:0008104 protein localization IBA
 biological_processGO:0030705 cytoskeleton-dependent intracellular transport IBA
 biological_processGO:0051028 mRNA transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex TAS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0035253 ciliary rootlet IEA
 cellular_componentGO:0043005 neuron projection IEA
 molecular_functionGO:0000166 nucleotide binding 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:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA


Pathways (from Reactome)
Pathway description
Insulin processing


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: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: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: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:0001344 Absent speech development 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001989 Early severe fetal akinesia sequence 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0002539 Cortical dysplasia 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003577 Onset at birth 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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