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Aliases for KLHL10 Gene

Aliases for KLHL10 Gene

  • Kelch Like Family Member 10 2 3 5
  • Testicular Tissue Protein Li 104 3
  • Kelch-Like 10 (Drosophila) 2
  • Kelch-Like Protein 10 3
  • SPGF11 3

External Ids for KLHL10 Gene

Previous GeneCards Identifiers for KLHL10 Gene

  • GC17U900007
  • GC17P039902
  • GC17P040367
  • GC17P037248
  • GC17P039992
  • GC17P035755

Summaries for KLHL10 Gene

Entrez Gene Summary for KLHL10 Gene

  • The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]

GeneCards Summary for KLHL10 Gene

KLHL10 (Kelch Like Family Member 10) is a Protein Coding gene. Diseases associated with KLHL10 include Spermatogenic Failure 11 and Oligospermia. An important paralog of this gene is IPP.

UniProtKB/Swiss-Prot for KLHL10 Gene

  • May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.

Additional gene information for KLHL10 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL10 Gene

Genomics for KLHL10 Gene

Regulatory Elements for KLHL10 Gene

Enhancers for KLHL10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H041687 1.7 Ensembl ENCODE dbSUPER 34.2 -145.3 -145287 6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 HSD17B1 NT5C3B KAT2A KLHL11 ACLY TMEM99
GH17H041781 1.4 ENCODE dbSUPER 15.8 -51.1 -51101 6 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZBTB7B YY1 ZNF766 CBX5 JUP KLHL10 ACLY HSD17B1 ENSG00000267765 DHX58 KLHL11 KAT2A ENSG00000267758 PLEKHH3
GH17H042386 1.4 ENCODE dbSUPER 15.6 +552.8 552763 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 NBR1 ENSG00000267340 ENSG00000267765 ENSG00000267002 KLHL10 TUBG2 PSMC3IP CAVIN1 KAT2A STAT3
GH17H041546 1.6 Ensembl ENCODE dbSUPER 13.3 -287.0 -287011 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 ZNF143 ZNF548 SMARCE1 ENSG00000267758 KLHL10 KRT14 STAT5A ACLY CAVIN1 NAGLU KRT15 LINC00974
GH17H041798 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -35.2 -35184 3 HDGF ATF1 ARID4B SIN3A ZNF2 ZNF121 SLC30A9 ZNF143 DEK PAF1 JUP NT5C3B ENSG00000267758 KLHL11 KLHL10 RETREG3 STAT5A LOC108783654 CNP TTC25
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL10 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094297 315 1201 HDAC1 RB1 ARID4B DMAP1 GLI4 SLC30A9 GLIS2 EGR1 SCRT2 EGR2

Genomic Location for KLHL10 Gene

Chromosome:
17
Start:
41,835,685 bp from pter
End:
41,848,384 bp from pter
Size:
12,700 bases
Orientation:
Plus strand

Genomic View for KLHL10 Gene

Genes around KLHL10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL10 Gene

Proteins for KLHL10 Gene

  • Protein details for KLHL10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6JEL2-KLH10_HUMAN
    Recommended name:
    Kelch-like protein 10
    Protein Accession:
    Q6JEL2
    Secondary Accessions:
    • Q6NW28
    • Q96MC0

    Protein attributes for KLHL10 Gene

    Size:
    608 amino acids
    Molecular mass:
    68942 Da
    Quaternary structure:
    • Self-associates (Probable). Interacts with CUL3; indicative for the participation in an E3 ubiquitin ligase complex (By similarity).
    SequenceCaution:
    • Sequence=BAB71387.1; Type=Erroneous termination; Positions=609; Note=Translated as stop.; Evidence={ECO:0000305};

neXtProt entry for KLHL10 Gene

Post-translational modifications for KLHL10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL10 Gene

No data available for DME Specific Peptides for KLHL10 Gene

Domains & Families for KLHL10 Gene

Gene Families for KLHL10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KLHL10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL10: view

No data available for UniProtKB/Swiss-Prot for KLHL10 Gene

Function for KLHL10 Gene

Molecular function for KLHL10 Gene

UniProtKB/Swiss-Prot Function:
May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.

Phenotypes From GWAS Catalog for KLHL10 Gene

Gene Ontology (GO) - Molecular Function for KLHL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL10: view
genes like me logo Genes that share phenotypes with KLHL10: view

Human Phenotype Ontology for KLHL10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLHL10 Gene

MGI Knock Outs for KLHL10:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHL10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for KLHL10 Gene

Localization for KLHL10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL10 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL10 gene
Compartment Confidence
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for KLHL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHL10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLHL10 Gene

Pathways & Interactions for KLHL10 Gene

SuperPathways for KLHL10 Gene

No Data Available

UniProtKB/Swiss-Prot Q6JEL2-KLH10_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development IBA --
GO:0008584 male gonad development IBA --
GO:0009566 fertilization IBA --
genes like me logo Genes that share ontologies with KLHL10: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL10 Gene

Drugs & Compounds for KLHL10 Gene

No Compound Related Data Available

Transcripts for KLHL10 Gene

Unigene Clusters for KLHL10 Gene

Kelch-like family member 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHL10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL10 Gene

No ASD Table

Relevant External Links for KLHL10 Gene

GeneLoc Exon Structure for
KLHL10
ECgene alternative splicing isoforms for
KLHL10

Expression for KLHL10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL10 Gene

mRNA differential expression in normal tissues according to GTEx for KLHL10 Gene

This gene is overexpressed in Testis (x38.0).

Protein differential expression in normal tissues from HIPED for KLHL10 Gene

This gene is overexpressed in Testis (60.9) and Heart (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL10 Gene



Protein tissue co-expression partners for KLHL10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL10 Gene:

KLHL10

SOURCE GeneReport for Unigene cluster for KLHL10 Gene:

Hs.127510

Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL10 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with KLHL10: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for KLHL10 Gene

Orthologs for KLHL10 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL10 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia KLHL10 33 34
  • 94.02 (n)
dog
(Canis familiaris)
Mammalia KLHL10 33 34
  • 93.31 (n)
mouse
(Mus musculus)
Mammalia Klhl10 33 16 34
  • 91.34 (n)
rat
(Rattus norvegicus)
Mammalia Klhl10 33
  • 91.28 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL10 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL10 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL10 33 34
  • 75.34 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL10 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl10 33
  • 62.67 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC560458 33
  • 63.43 (n)
KLHL10 (2 of 3) 34
  • 57 (a)
OneToMany
KLHL10 (3 of 3) 34
  • 57 (a)
OneToMany
klhl10a 34
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta klhl10 33 34
  • 52.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003895 33
  • 51.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
-- 34
  • 34 (a)
OneToMany
Species where no ortholog for KLHL10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL10 Gene

ENSEMBL:
Gene Tree for KLHL10 (if available)
TreeFam:
Gene Tree for KLHL10 (if available)

Paralogs for KLHL10 Gene

Paralogs for KLHL10 Gene

genes like me logo Genes that share paralogs with KLHL10: view

Variants for KLHL10 Gene

Sequence variations from dbSNP and Humsavar for KLHL10 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs116420871 Pathogenic, Spermatogenic failure 11 (SPGF11) [MIM:615081] 41,842,275(+) CCCCC(A/C)AAATA reference, missense
rs370756367 Pathogenic, Spermatogenic failure 11 (SPGF11) [MIM:615081] 41,845,378(+) ATGAC(A/G)CTCGG reference, missense
rs1000426034 -- 41,836,028(+) TCGCT(C/T)GGGCG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1001077043 -- 41,847,014(+) AGATG(C/T)TGAGG intron-variant
rs1001373131 -- 41,840,480(+) AAAAA(A/C)CGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL10 Gene

Variant ID Type Subtype PubMed ID
dgv3174n100 CNV gain 25217958
nsv1057008 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv833447 CNV loss 17160897

Variation tolerance for KLHL10 Gene

Residual Variation Intolerance Score: 53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL10 Gene

Human Gene Mutation Database (HGMD)
KLHL10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL10 Gene

Disorders for KLHL10 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLHL10 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 11
  • spgf11
oligospermia
infertility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLH10_HUMAN
  • Spermatogenic failure 11 (SPGF11) [MIM:615081]: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases. {ECO:0000269 PubMed:17047026}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL10

Genetic Association Database (GAD)
KLHL10
Human Genome Epidemiology (HuGE) Navigator
KLHL10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL10
genes like me logo Genes that share disorders with KLHL10: view

No data available for Genatlas for KLHL10 Gene

Publications for KLHL10 Gene

  1. Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. (PMID: 15136734) Yan W … Matzuk MM (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 60
  2. [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia]. (PMID: 20218307) Qiu QM … Lu GX (Zhonghua nan ke xue = National journal of andrology 2009) 3 45 60
  3. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. (PMID: 17047026) Yatsenko AN … Matzuk MM (Human molecular genetics 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for KLHL10 Gene

Sources for KLHL10 Gene

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