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]
Show

 HP:0000565 Esotropia 
Show

 HP:0000577 Exotropia 
Show

 HP:0001477 Compensatory chin elevation 
Show

 HP:0001488 Bilateral ptosis 
Show

 HP:0001491 Congenital fibrosis of extraocular muscles 
Show

 HP:0007936 Restrictive external ophthalmoplegia 
Show

 HP:0012241 Levator palpebrae superioris atrophy "Atrophy of the `levator palpebrae superioris` (FMA:49041), the extraocular muscle that elevates the superior eyelid." [HPO:probinson]
Show

 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]
Show

  


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






 

1 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