Homo sapiens

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]

 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]

 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]

 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]

 HP:0001344 Absent speech development 

 HP:0001511 Intrauterine growth retardation 

 HP:0001989 Early severe fetal akinesia sequence 

 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]

 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]

 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]

 HP:0002539 Cortical dysplasia 

 HP:0002804 Arthrogryposis multiplex congenita 

 HP:0003577 Onset at birth 

 HP:0003828 Variable expressivity 


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match


0 s.

External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


© Olivier Tassy / Olivier Pourquie 2007-2021
contact: otassy@igbmc.fr