ENSG00000167306


Homo sapiens

Features
Gene ID: ENSG00000167306
  
Biological name :MYO5B
  
Synonyms : MYO5B / myosin VB / Q9ULV0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.1
Gene start: 49822813
Gene end: 50195093
  
Corresponding Affymetrix probe sets: 1570141_at (Human Genome U133 Plus 2.0 Array)   225299_at (Human Genome U133 Plus 2.0 Array)   225301_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000285039
Ensembl peptide - ENSP00000466368
Ensembl peptide - ENSP00000315531
NCBI entrez gene - 4645     See in Manteia.
OMIM - 606540
RefSeq - NM_001080467
RefSeq Peptide - NP_001073936
swissprot - A0A0A0MR36
swissprot - Q9ULV0
Ensembl - ENSG00000167306
  
Related genetic diseases (OMIM): 251850 - Microvillus inclusion disease, 251850
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
 myo5bENSDARG00000062003Danio rerio
 ENSGALG00000012984Gallus gallus
 Myo5bENSMUSG00000025885Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYO5A / Q9Y4I1 / myosin VAENSG0000019753563
MYO5C / Q9NQX4 / myosin VCENSG0000012883349
MYO7A / Q13402 / myosin VIIAENSG0000013747424
MYO9A / B2RTY4 / myosin IXAENSG0000006693324
MYO7B / Q6PIF6 / myosin VIIBENSG0000016999423
MYO9B / Q13459 / myosin IXBENSG0000009933122
MYO10 / Q9HD67 / myosin XENSG0000014555522
MYO6 / Q9UM54 / myosin VIENSG0000019658618
AC090227.1ENSG000002669979


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR001609  Myosin head, motor domain
 IPR002710  Dilute domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036103  Class V myosin, motor domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003091 renal water homeostasis TAS
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IMP
 biological_processGO:0016197 endosomal transport IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016459 myosin complex IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045179 apical cortex IDA
 cellular_componentGO:0055037 recycling endosome IC
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000146 microfilament motor activity TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Vasopressin regulates renal water homeostasis via Aquaporins


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:0000121 Nephrocalcinosis 
Show

 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001510 Growth retardation 
Show

 HP:0001522 Death in infancy 
Show

 HP:0001942 Metabolic acidosis 
Show

 HP:0001944 Dehydration 
Show

 HP:0002014 Diarrhea 
Show

 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
Show

 HP:0004385 Protracted diarrhea 
Show

 HP:0004395 Malnutrition 
Show

 HP:0011106 Hypovolemia "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson]
Show

 HP:0011473 Villous atrophy "The enteric villi are atrophic or absent." [HPO:probinson]
Show

 HP:0012211 Abnormal renal physiology "Any functional anomaly of the `kidney` (FMA:7203)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000103769 P62491 / RAB11A / RAB11A, member RAS oncogene family  / complex
 ENSG00000107560 Q7L804 / RAB11FIP2 / RAB11 family interacting protein 2  / complex






 

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