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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.

No data available for 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
GH17F041687 1.2 ENCODE 20.4 -145.3 -145287 6.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ENSG00000267758 KLHL10 TMEM99 HAP1 KRTAP9-2 LOC105371776 ENSG00000259623 TUBG2 RN7SL399P DHX58
GH17F041798 1.6 FANTOM5 Ensembl ENCODE 11.1 -35.1 -35132 3.6 ARID4B ZNF48 ZNF2 SLC30A9 ZNF121 ZNF143 DEK PAF1 ZNF263 SP3 JUP NT5C3B KLHL11 KLHL10 CNP TTC25 KRT19 KRT17 KRT15 KRT16
GH17F042515 1.7 FANTOM5 Ensembl ENCODE 10.4 +686.2 686208 12.2 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000267340 MLX TUBG2 ENSG00000267002 PTRF NAGLU RAB5C KAT2A MIR5010 ATP6V0A1
GH17F041705 1.3 FANTOM5 Ensembl ENCODE 10.7 -129.9 -129873 1.6 SOX13 HDGF ZFHX2 ZNF366 POLR2A CREM THAP11 EGR2 SOX5 MNT HAP1 RN7SL399P FKBP10 P3H4 KLHL10 NT5C3B ENSG00000267765 ZNF385C TTC25 GAST
GH17F041377 1.2 Ensembl ENCODE 10.4 -455.7 -455716 5.5 HDAC1 PKNOX1 TBL1XR1 ZFP64 RFX5 ZNF766 GATA2 ZNF680 ZNF654 ZBTB11 KRT34 KRT38 TMEM99 KAT2A KRT32 P3H4 ENSG00000267758 KLHL10 IGFBP4 ENSG00000259623
- 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
ENSR00001346380 315 1601 SIN3A ARID4B GLI4 DMAP1 ZNF48 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

Suggested Antigen Peptide Sequences for KLHL10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6JEL2

UniProtKB/Swiss-Prot:

KLH10_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL10: view

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.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Transcripts for KLHL10 Gene

Unigene Clusters for KLHL10 Gene

Kelch-like family member 10:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia KLHL10 34 35
  • 94.02 (n)
dog
(Canis familiaris)
Mammalia KLHL10 34 35
  • 93.31 (n)
mouse
(Mus musculus)
Mammalia Klhl10 34 16 35
  • 91.34 (n)
rat
(Rattus norvegicus)
Mammalia Klhl10 34
  • 91.28 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL10 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL10 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL10 34 35
  • 75.34 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL10 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl10 34
  • 62.67 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC560458 34
  • 63.43 (n)
KLHL10 (2 of 3) 35
  • 57 (a)
OneToMany
KLHL10 (3 of 3) 35
  • 57 (a)
OneToMany
klhl10a 35
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta klhl10 34 35
  • 52.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003895 34
  • 51.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
-- 35
  • 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 Spermatogenic failure 11 (SPGF11) [MIM:615081], Pathogenic 41,842,275(+) CCCCC(A/C)AAATA reference, missense
rs370756367 Spermatogenic failure 11 (SPGF11) [MIM:615081], Pathogenic 41,845,378(+) ATGAC(A/G)CTCGG reference, missense
rs1044777 -- 41,848,632(-) AGAAC(A/C)CCTTG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs11079017 -- 41,841,604(+) CACCA(A/C)GCCTG intron-variant
rs111264802 -- 41,836,633(+) GCCTG(A/G)GCAAT intron-variant, upstream-variant-2KB

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: 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 M.M. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  2. [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia]. (PMID: 20218307) Qiu Q.M. … Lu G.X. (Zhonghua Nan Ke Xue 2009) 3 46 64
  3. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. (PMID: 17047026) Yatsenko A.N. … Matzuk M.M. (Hum. Mol. Genet. 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3 64

Products for KLHL10 Gene

Sources for KLHL10 Gene

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