ENSG00000146021


Homo sapiens

Features
Gene ID: ENSG00000146021
  
Biological name :KLHL3
  
Synonyms : kelch like family member 3 / KLHL3 / Q9UH77
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q31.2
Gene start: 137617500
Gene end: 137736090
  
Corresponding Affymetrix probe sets: 1555110_a_at (Human Genome U133 Plus 2.0 Array)   221221_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422099
Ensembl peptide - ENSP00000426173
Ensembl peptide - ENSP00000424828
Ensembl peptide - ENSP00000423585
Ensembl peptide - ENSP00000312397
NCBI entrez gene - 26249     See in Manteia.
OMIM - 605775
RefSeq - NM_001257194
RefSeq - NM_001257195
RefSeq - NM_017415
RefSeq Peptide - NP_001244123
RefSeq Peptide - NP_059111
RefSeq Peptide - NP_001244124
swissprot - Q9UH77
swissprot - D6R9K4
swissprot - D6RH21
Ensembl - ENSG00000146021
  
Related genetic diseases (OMIM): 614495 - Pseudohypoaldosteronism, type IID, 614495
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
 klhl3ENSDARG00000056647Danio rerio
 KLHL3ENSGALG00000039124Gallus gallus
 Klhl3ENSMUSG00000014164Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL2 / O95198 / kelch like family member 2ENSG0000010946677
KLHL17 / Q6TDP4 / kelch like family member 17ENSG0000018796147
KLHL20 / Q9Y2M5 / kelch like family member 20ENSG0000007632143
KLHL5 / Q96PQ7 / kelch like family member 5ENSG0000010979040
KLHL1 / Q9NR64 / kelch like family member 1ENSG0000015036139
KLHL12 / Q53G59 / kelch like family member 12ENSG0000011715339
KLHL8 / Q9P2G9 / kelch like family member 8ENSG0000014533237
KLHL28 / Q9NXS3 / kelch like family member 28ENSG0000017945437
KLHL18 / O94889 / kelch like family member 18ENSG0000011464837
KLHL4 / Q9C0H6 / kelch like family member 4ENSG0000010227136
KEAP1 / Q14145 / kelch like ECH associated protein 1ENSG0000007999936
KLHL10 / Q6JEL2 / kelch like family member 10ENSG0000016159434


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR006652  Kelch repeat type 1
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR011705  BTB/Kelch-associated
 IPR015915  Kelch-type beta propeller
 IPR017096  BTB-kelch protein
 IPR037293  Galactose oxidase, central domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0050801 ion homeostasis IMP
 biological_processGO:0070294 renal sodium ion absorption IMP
 biological_processGO:0070936 protein K48-linked ubiquitination IDA
 biological_processGO:0072156 distal tubule morphogenesis IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex TAS
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005198 structural molecule activity TAS
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


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: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:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

 HP:0002153 Hyperkalemia 
Show

 HP:0004918 hyperchloremic metabolic acidosis 
Show

 HP:0008242 Pseudohypoaldosteronism 
Show

 HP:0011423 Hyperchloremia "An abnormally increased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson]
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