ENSG00000161594


Homo sapiens

Features
Gene ID: ENSG00000161594
  
Biological name :KLHL10
  
Synonyms : kelch like family member 10 / KLHL10 / Q6JEL2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 41835685
Gene end: 41848384
  
Corresponding Affymetrix probe sets: 1552424_at (Human Genome U133 Plus 2.0 Array)   1552425_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000293303
Ensembl peptide - ENSP00000416221
Ensembl peptide - ENSP00000391983
NCBI entrez gene - 317719     See in Manteia.
OMIM - 608778
RefSeq - XM_011524706
RefSeq - NM_152467
RefSeq Peptide - NP_001316524
RefSeq Peptide - NP_689680
swissprot - C9J999
swissprot - C9JHB3
swissprot - Q6JEL2
swissprot - A0A140VJM8
Ensembl - ENSG00000161594
  
Related genetic diseases (OMIM): 615081 - Spermatogenic failure 11, 615081
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
 klhl10aENSDARG00000005814Danio rerio
 klhl10b.1ENSDARG00000115489Danio rerio
 klhl10b.2ENSDARG00000112170Danio rerio
 KLHL10ENSGALG00000003624Gallus gallus
 Klhl10ENSMUSG00000001558Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL20 / Q9Y2M5 / kelch like family member 20ENSG0000007632134
KLHL2 / O95198 / kelch like family member 2ENSG0000010946634
KLHL17 / Q6TDP4 / kelch like family member 17ENSG0000018796132
KLHL3 / Q9UH77 / kelch like family member 3ENSG0000014602132
KLHL1 / Q9NR64 / kelch like family member 1ENSG0000015036131
KLHL28 / Q9NXS3 / kelch like family member 28ENSG0000017945431
KLHL5 / Q96PQ7 / kelch like family member 5ENSG0000010979030
KLHL12 / Q53G59 / kelch like family member 12ENSG0000011715330
KEAP1 / Q14145 / kelch like ECH associated protein 1ENSG0000007999930
KLHL4 / Q9C0H6 / kelch like family member 4ENSG0000010227129
KLHL18 / O94889 / kelch like family member 18ENSG0000011464829
KLHL8 / Q9P2G9 / kelch like family member 8ENSG0000014533227


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007286 spermatid development IBA
 biological_processGO:0008584 male gonad development IBA
 biological_processGO:0009566 fertilization IBA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0048808 male genitalia morphogenesis IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IBA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000789 Infertility 
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 HP:0000837 Elevated gonadotropins 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0011962 Obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0012864 Abnormal sperm morphology "A structural anomaly of sperm." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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