ENSG00000137802


Homo sapiens

Features
Gene ID: ENSG00000137802
  
Biological name :MAPKBP1
  
Synonyms : MAPKBP1 / mitogen-activated protein kinase binding protein 1 / O60336
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q15.1
Gene start: 41774434
Gene end: 41827855
  
Corresponding Affymetrix probe sets: 1558839_at (Human Genome U133 Plus 2.0 Array)   213394_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421891
Ensembl peptide - ENSP00000487189
Ensembl peptide - ENSP00000427582
Ensembl peptide - ENSP00000426154
Ensembl peptide - ENSP00000422132
Ensembl peptide - ENSP00000393099
Ensembl peptide - ENSP00000397570
NCBI entrez gene - 23005     See in Manteia.
OMIM - 616786
RefSeq - XM_011521384
RefSeq - XM_006720438
RefSeq - NM_001128608
RefSeq - NM_001265611
RefSeq - NM_014994
RefSeq - XM_017022017
RefSeq - XM_011521383
RefSeq Peptide - NP_001122080
RefSeq Peptide - NP_001252540
RefSeq Peptide - NP_055809
swissprot - O60336
swissprot - D6RHX7
swissprot - D6R9F7
swissprot - D6RAI2
Ensembl - ENSG00000137802
  
Related genetic diseases (OMIM): 617271 - Nephronophthisis 20, 617271
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
 mapkbp1ENSDARG00000103746Danio rerio
 ENSGALG00000008692Gallus gallus
 Mapkbp1ENSMUSG00000033902Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
WDR62 / O43379 / WD repeat domain 62ENSG0000007570239


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR013979  Translation initiation factor, beta propellor-like domain
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008380 RNA splicing IBA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:1900425 negative regulation of defense response to bacterium IMP
 biological_processGO:2000483 negative regulation of interleukin-8 secretion IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005682 U5 snRNP IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0071011 precatalytic spliceosome IBA
 cellular_componentGO:0071013 catalytic step 2 spliceosome IBA
 cellular_componentGO:0097431 mitotic spindle pole IDA
 molecular_functionGO:0003723 RNA binding IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000090 Nephronophthisis 
Show

 HP:0000107 Renal cysts 
Show

 HP:0003676 Progressive disorder 
Show

 HP:0003774 End stage renal disease 
Show

 HP:0003828 Variable expressivity 
Show

  


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 2007-2024
contact: otassy@igbmc.fr