ENSG00000139116


Homo sapiens

Features
Gene ID: ENSG00000139116
  
Biological name :KIF21A
  
Synonyms : KIF21A / kinesin family member 21A / Q7Z4S6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q12
Gene start: 39293228
Gene end: 39443390
  
Corresponding Affymetrix probe sets: 226003_at (Human Genome U133 Plus 2.0 Array)   231875_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449700
Ensembl peptide - ENSP00000449698
Ensembl peptide - ENSP00000490369
Ensembl peptide - ENSP00000354851
Ensembl peptide - ENSP00000354878
Ensembl peptide - ENSP00000438075
Ensembl peptide - ENSP00000445606
Ensembl peptide - ENSP00000447070
Ensembl peptide - ENSP00000447765
Ensembl peptide - ENSP00000448792
NCBI entrez gene - 55605     See in Manteia.
OMIM - 608283
RefSeq - XM_017019611
RefSeq - XM_005269011
RefSeq - XM_005269012
RefSeq - XM_005269013
RefSeq - XM_005269014
RefSeq - XM_006719493
RefSeq - XM_006719494
RefSeq - XM_011538556
RefSeq - XM_017019607
RefSeq - XM_017019608
RefSeq - XM_017019609
RefSeq - XM_017019610
RefSeq - NM_001173463
RefSeq - NM_001173464
RefSeq - NM_001173465
RefSeq - NM_017641
RefSeq - XM_005269007
RefSeq - XM_005269008
RefSeq - XM_005269009
RefSeq - XM_005269010
RefSeq Peptide - NP_001166935
RefSeq Peptide - NP_001166936
RefSeq Peptide - NP_060111
RefSeq Peptide - NP_001166934
swissprot - H0YIM7
swissprot - A0A1B0GV47
swissprot - H0YHG9
swissprot - Q7Z4S6
swissprot - H0YHT2
swissprot - H0YI78
swissprot - H0YIM6
Ensembl - ENSG00000139116
  
Related genetic diseases (OMIM): 135700 - Fibrosis of extraocular muscles, congenital, 1, 135700
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
 kif21aENSDARG00000061131Danio rerio
 KIF21AENSGALG00000007098Gallus gallus
 Kif21aENSMUSG00000022629Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF21B / O75037 / kinesin family member 21BENSG0000011685259
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665021
KIF4A / O95239 / kinesin family member 4AENSG0000009088921
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511520
CENPE / Q02224 / centromere protein EENSG0000013877818
KIF7 / Q2M1P5 / kinesin family member 7ENSG0000016681318
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724516
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380816
KIF5B / P33176 / kinesin family member 5BENSG0000017075915
KIF5C / O60282 / kinesin family member 5CENSG0000016828015
KIF5A / Q12840 / kinesin family member 5AENSG0000015598015
KIF11 / P52732 / kinesin family member 11ENSG0000013816014
KIF3B / O15066 / kinesin family member 3BENSG0000010135012
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143712
KIF3C / O14782 / kinesin family member 3CENSG0000008473112


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR001752  Kinesin motor domain
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR019821  Kinesin motor domain, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027640  Kinesin-like protein
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036961  Kinesin motor domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007018 microtubule-based movement IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex IBA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity 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:0016887 ATPase activity IBA


Pathways (from Reactome)
Pathway description
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:0000565 Esotropia 
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 HP:0000577 Exotropia 
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 HP:0001477 Compensatory chin elevation 
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 HP:0001488 Bilateral ptosis 
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 HP:0001491 Congenital fibrosis of extraocular muscles 
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 HP:0007936 Restrictive external ophthalmoplegia 
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 HP:0012241 Levator palpebrae superioris atrophy "Atrophy of the `levator palpebrae superioris` (FMA:49041), the extraocular muscle that elevates the superior eyelid." [HPO:probinson]
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 HP:0012242 Superior rectus atrophy "Atrophy of the `superior rectus` (FMA:49035), the extraocular muscle whose primary function is to elevate the globe." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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