ENSG00000090889


Homo sapiens

Features
Gene ID: ENSG00000090889
  
Biological name :KIF4A
  
Synonyms : KIF4A / kinesin family member 4A / O95239
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q13.1
Gene start: 70290090
Gene end: 70420832
  
Corresponding Affymetrix probe sets: 218355_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363524
NCBI entrez gene - 24137     See in Manteia.
OMIM - 300521
RefSeq - NM_012310
RefSeq Peptide - NP_036442
swissprot - O95239
Ensembl - ENSG00000090889
  
Related genetic diseases (OMIM): 300923 - ?Mental retardation, X-linked 100, 300923
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
 kif4ENSDARG00000005462Danio rerio
 KIF4AENSGALG00000004195Gallus gallus
 Kif4ENSMUSG00000034311Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665094
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911629
KIF21B / O75037 / kinesin family member 21BENSG0000011685229
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511524
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681323
CENPE / Q02224 / centromere protein EENSG0000013877823
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380822
KIF5B / P33176 / kinesin family member 5BENSG0000017075920
KIF5A / Q12840 / kinesin family member 5AENSG0000015598020
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724519
KIF5C / O60282 / kinesin family member 5CENSG0000016828019
KIF11 / P52732 / kinesin family member 11ENSG0000013816019
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143718
KIF3B / O15066 / kinesin family member 3BENSG0000010135017
KIF3C / O14782 / kinesin family member 3CENSG0000008473116


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:0000281 mitotic cytokinesis IMP
 biological_processGO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS
 biological_processGO:0006996 organelle organization TAS
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0008089 anterograde axonal transport TAS
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0051256 mitotic spindle midzone assembly IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex IBA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005876 spindle microtubule TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0030496 midbody IEA
 cellular_componentGO:0045171 intercellular bridge IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003777 microtubule motor activity TAS
 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
MHC class II antigen presentation
Recycling pathway of L1
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001999 Facial dysmorphism 
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 HP:0002465 Poor speech 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000079616 KIF22 / Q14807 / kinesin family member 22  / reaction
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / reaction / complex
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / reaction / complex
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex / reaction
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / complex / reaction
 ENSG00000090889 KIF4A / O95239 / kinesin family member 4A  / reaction / complex
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / reaction / complex
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / complex / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / reaction / complex
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / complex / reaction
 ENSG00000226650 KIF4B / Q2VIQ3 / kinesin family member 4B  / complex / reaction






 

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