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Aliases for KLHL15 Gene

Aliases for KLHL15 Gene

  • Kelch Like Family Member 15 2 3 5
  • Epididymis Secretory Protein Li 305 3
  • Kelch-Like 15 (Drosophila) 2
  • Kelch-Like Protein 15 3
  • Kelch-Like 15 3
  • HEL-S-305 3
  • KIAA1677 4

External Ids for KLHL15 Gene

Previous GeneCards Identifiers for KLHL15 Gene

  • GC0XM023364
  • GC0XM023761
  • GC0XM021746

Summaries for KLHL15 Gene

Entrez Gene Summary for KLHL15 Gene

  • This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

GeneCards Summary for KLHL15 Gene

KLHL15 (Kelch Like Family Member 15) is a Protein Coding gene. Diseases associated with KLHL15 include Mental Retardation, X-Linked 103. An important paralog of this gene is KLHL22.

UniProtKB/Swiss-Prot for KLHL15 Gene

  • Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354).

Additional gene information for KLHL15 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL15 Gene

Genomics for KLHL15 Gene

GeneHancer (GH) Regulatory Elements for KLHL15 Gene

Promoters and enhancers for KLHL15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI024023 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 550.8 +2.2 2159 4.1 SMAD1 FOXA2 SIN3A ZNF2 YY1 POLR2B SP3 SP5 ZHX2 REST KLHL15 SAT1 ZFX ACOT9 PDK3 GC0XP023953
GH0XI024053 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.1 -28.0 -27997 3.6 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 EIF2S3 KLHL15 ZFX GC0XP024078
GH0XI023905 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.5 +119.6 119639 3.3 ARID4B SIN3A ZNF2 YY1 E2F8 ZNF207 ZNF143 SP3 REST ZNF592 APOO CXorf58 KLHL15 ZFX EIF2S3 RPL9P7
GH0XI023952 Enhancer 1.1 Ensembl ENCODE 12.4 +73.5 73480 2.1 NFRKB ZNF529 ZNF335 POLR2B ZSCAN5C SCRT2 ETV6 IKZF2 EGR2 ZNF280D GC0XP023953 KLHL15 APOO SAT1
GH0XI024242 Enhancer 1 Ensembl ENCODE 11.6 -216.8 -216811 3.6 ARID4B RAD21 RFX5 ZNF366 ZNF143 FOS IKZF2 RUNX3 ZNF362 SMARCC1 ZFX ZFX-AS1 ENSG00000201407 KLHL15 SUPT20HL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL15 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL15 gene promoter:

Genomic Locations for KLHL15 Gene

Genomic Locations for KLHL15 Gene
chrX:23,983,716-24,027,186
(GRCh38/hg38)
Size:
43,471 bases
Orientation:
Minus strand
chrX:24,001,833-24,045,303
(GRCh37/hg19)

Genomic View for KLHL15 Gene

Genes around KLHL15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL15 Gene

Proteins for KLHL15 Gene

  • Protein details for KLHL15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M94-KLH15_HUMAN
    Recommended name:
    Kelch-like protein 15
    Protein Accession:
    Q96M94
    Secondary Accessions:
    • Q32MN3
    • Q8NDA3
    • Q96BM6
    • Q9C0I6

    Protein attributes for KLHL15 Gene

    Size:
    604 amino acids
    Molecular mass:
    69775 Da
    Quaternary structure:
    • Homodimer. Dimerization does not affect PPP2R5B-binding, but is required for its proteasomal degradation (PubMed:23135275). Interacts with CUL3 (PubMed:27561354, PubMed:14528312, PubMed:23135275). Directly interacts with PPP2R5B; this interaction leads to PPP2R5B proteasomal degradation (PubMed:23135275). Interacts with RBBP8/CtIP; this interaction leads to RBBP8 proteasomal degradation (PubMed:27561354).

neXtProt entry for KLHL15 Gene

Post-translational modifications for KLHL15 Gene

No Post-translational modifications

Other Protein References for KLHL15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL15 Gene

Domains & Families for KLHL15 Gene

Gene Families for KLHL15 Gene

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

Suggested Antigen Peptide Sequences for KLHL15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL15: view

No data available for UniProtKB/Swiss-Prot for KLHL15 Gene

Function for KLHL15 Gene

Molecular function for KLHL15 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354).

Phenotypes From GWAS Catalog for KLHL15 Gene

Gene Ontology (GO) - Molecular Function for KLHL15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 27561354
genes like me logo Genes that share ontologies with KLHL15: view
genes like me logo Genes that share phenotypes with KLHL15: view

Human Phenotype Ontology for KLHL15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for KLHL15 Gene

miRTarBase miRNAs that target KLHL15

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL15 Gene

Localization for KLHL15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL15 Gene

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 KLHL15 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 27561354
GO:0031463 colocalizes_with Cul3-RING ubiquitin ligase complex IDA 27561354
genes like me logo Genes that share ontologies with KLHL15: view

Pathways & Interactions for KLHL15 Gene

SuperPathways for KLHL15 Gene

No Data Available

UniProtKB/Swiss-Prot Q96M94-KLH15_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 27561354
GO:0071630 nuclear protein quality control by the ubiquitin-proteasome system IDA 27561354
GO:2000042 negative regulation of double-strand break repair via homologous recombination IDA 27561354
genes like me logo Genes that share ontologies with KLHL15: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL15 Gene

Drugs & Compounds for KLHL15 Gene

No Compound Related Data Available

Transcripts for KLHL15 Gene

mRNA/cDNA for KLHL15 Gene

Unigene Clusters for KLHL15 Gene

Kelch-like family member 15:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL15 Gene

No ASD Table

Relevant External Links for KLHL15 Gene

GeneLoc Exon Structure for
KLHL15
ECgene alternative splicing isoforms for
KLHL15

Expression for KLHL15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL15 Gene

This gene is overexpressed in Testis (50.0) and Fetal testis (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL15 Gene



Protein tissue co-expression partners for KLHL15 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL15 Gene:

KLHL15

SOURCE GeneReport for Unigene cluster for KLHL15 Gene:

Hs.495854

Evidence on tissue expression from TISSUES for KLHL15 Gene

  • Nervous system(4.3)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with KLHL15: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL15 Gene

Orthologs for KLHL15 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL15 33 34
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KLHL15 33 34
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia KLHL15 33 34
  • 93.43 (n)
rat
(Rattus norvegicus)
Mammalia Klhl15 33
  • 91.28 (n)
mouse
(Mus musculus)
Mammalia Klhl15 33 16 34
  • 90.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL15 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL15 33 34
  • 84.44 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL15 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl15 33
  • 78.42 (n)
Str.20207 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19515 33
zebrafish
(Danio rerio)
Actinopterygii klhl15 33 34
  • 72.74 (n)
Dr.28665 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
CSA.449 34
  • 27 (a)
ManyToMany
Species where no ortholog for KLHL15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 KLHL15 Gene

ENSEMBL:
Gene Tree for KLHL15 (if available)
TreeFam:
Gene Tree for KLHL15 (if available)

Paralogs for KLHL15 Gene

(11) SIMAP similar genes for KLHL15 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for KLHL15 Gene

genes like me logo Genes that share paralogs with KLHL15: view

Variants for KLHL15 Gene

Sequence variations from dbSNP and Humsavar for KLHL15 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1060499748 likely-pathogenic, Abnormality of brain morphology 23,988,262(-) C/T coding_sequence_variant, missense_variant
rs985055222 uncertain-significance, not specified 24,006,162(-) C/A/G coding_sequence_variant, missense_variant, stop_gained
rs1000070461 -- 24,028,683(-) T/C upstream_transcript_variant
rs1000086699 -- 24,019,122(-) T/G intron_variant
rs1000221113 -- 24,007,984(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL15 Gene

Variant ID Type Subtype PubMed ID
esv22476 CNV loss 19812545
esv2660439 CNV deletion 23128226
esv2740010 CNV deletion 23290073
esv3573674 CNV loss 25503493
nsv524256 CNV gain 19592680

Variation tolerance for KLHL15 Gene

Residual Variation Intolerance Score: 6.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL15 Gene

Human Gene Mutation Database (HGMD)
KLHL15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL15 Gene

Disorders for KLHL15 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL15 Gene - From: HGMD, OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 103
  • mrx103
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLH15_HUMAN
  • Mental retardation, X-linked 103 (MRX103) [MIM:300982]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:24817631, ECO:0000269 PubMed:25644381}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KLHL15

genes like me logo Genes that share disorders with KLHL15: view

No data available for Genatlas for KLHL15 Gene

Publications for KLHL15 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  3. Cullin3-KLHL15 ubiquitin ligase mediates CtIP protein turnover to fine-tune DNA-end resection. (PMID: 27561354) Ferretti LP … Sartori AA (Nature communications 2016) 3 4 58
  4. Selective proteasomal degradation of the B'β subunit of protein phosphatase 2A by the E3 ubiquitin ligase adaptor Kelch-like 15. (PMID: 23135275) Oberg EA … Strack S (The Journal of biological chemistry 2012) 3 4 58
  5. Identification and characterization of a novel kelch-like gene KLHL15 in silico. (PMID: 15870933) Yoshida K (Oncology reports 2005) 3 22 58

Products for KLHL15 Gene

Sources for KLHL15 Gene

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