ENSG00000107104


Homo sapiens

Features
Gene ID: ENSG00000107104
  
Biological name :KANK1
  
Synonyms : KANK1 / KN motif and ankyrin repeat domains 1 / Q14678
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: p24.3
Gene start: 470291
Gene end: 746106
  
Corresponding Affymetrix probe sets: 213005_s_at (Human Genome U133 Plus 2.0 Array)   237162_at (Human Genome U133 Plus 2.0 Array)   238789_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477725
Ensembl peptide - ENSP00000371723
Ensembl peptide - ENSP00000371726
Ensembl peptide - ENSP00000371730
Ensembl peptide - ENSP00000371734
Ensembl peptide - ENSP00000371740
NCBI entrez gene - 23189     See in Manteia.
OMIM - 607704
RefSeq - XM_017014542
RefSeq - NM_001256876
RefSeq - NM_001256877
RefSeq - NM_001354334
RefSeq - NM_001354341
RefSeq - NM_015158
RefSeq - NM_153186
RefSeq - XM_017014530
RefSeq - XM_017014531
RefSeq - XM_017014532
RefSeq - XM_017014533
RefSeq - XM_017014534
RefSeq - XM_017014535
RefSeq - XM_017014536
RefSeq - XM_017014537
RefSeq - XM_017014538
RefSeq - XM_017014539
RefSeq - XM_017014540
RefSeq - XM_017014541
RefSeq - XM_005251411
RefSeq - XM_005251414
RefSeq - XM_005251415
RefSeq - XM_005251416
RefSeq - XM_005251417
RefSeq - XM_005251418
RefSeq - XM_005251419
RefSeq - XM_006716743
RefSeq - XM_011517819
RefSeq - XM_011517820
RefSeq - XM_011517821
RefSeq - XM_017014511
RefSeq - XM_017014512
RefSeq - XM_017014513
RefSeq - XM_017014514
RefSeq - XM_017014515
RefSeq - XM_017014516
RefSeq - XM_017014517
RefSeq - XM_017014518
RefSeq - XM_017014519
RefSeq - XM_017014520
RefSeq - XM_017014521
RefSeq - XM_017014522
RefSeq - XM_017014523
RefSeq - XM_017014524
RefSeq - XM_017014525
RefSeq - XM_017014526
RefSeq - XM_017014527
RefSeq - XM_017014528
RefSeq - XM_017014529
RefSeq Peptide - NP_001243805
RefSeq Peptide - NP_001341262
RefSeq Peptide - NP_001341263
RefSeq Peptide - NP_001341264
RefSeq Peptide - NP_001341266
RefSeq Peptide - NP_001341270
RefSeq Peptide - NP_055973
RefSeq Peptide - NP_694856
RefSeq Peptide - NP_001243806
swissprot - Q5W0W2
swissprot - Q5W0W3
swissprot - Q14678
Ensembl - ENSG00000107104
  
Related genetic diseases (OMIM): 612900 - Cerebral palsy, spastic quadriplegic, 2, 612900
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
 kank1aENSDARG00000060102Danio rerio
 KANK1ENSGALG00000010158Gallus gallus
 Kank1ENSMUSG00000032702Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KANK2 / Q63ZY3 / KN motif and ankyrin repeat domains 2ENSG0000019725625
KANK4 / Q5T7N3 / KN motif and ankyrin repeat domains 4ENSG0000013285424
KANK3 / Q6NY19 / KN motif and ankyrin repeat domains 3ENSG0000018699422


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR021939  Kank N-terminal motif
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0010977 negative regulation of neuron projection development IDA
 biological_processGO:0030177 positive regulation of Wnt signaling pathway IDA
 biological_processGO:0030336 negative regulation of cell migration IMP
 biological_processGO:0030837 negative regulation of actin filament polymerization IDA
 biological_processGO:0035024 negative regulation of Rho protein signal transduction IMP
 biological_processGO:0046627 negative regulation of insulin receptor signaling pathway IMP
 biological_processGO:0090303 positive regulation of wound healing IMP
 biological_processGO:1900025 negative regulation of substrate adhesion-dependent cell spreading IDA
 biological_processGO:1900028 negative regulation of ruffle assembly IDA
 biological_processGO:2000114 regulation of establishment of cell polarity IMP
 biological_processGO:2000393 negative regulation of lamellipodium morphogenesis IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IDA


Pathways (from Reactome)
Pathway description
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002119 Ventriculomegaly 
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0012275 Autosomal dominant inheritance with maternal imprinting "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [HPO:probinson]
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 HP:0100021 Cerebral paralysis "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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