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Aliases for KLHL42 Gene

Aliases for KLHL42 Gene

  • Kelch Like Family Member 42 2 3 5
  • Kelch Domain-Containing Protein 5 3 4
  • Cullin-3-Binding Protein 9 3 4
  • Kelch Domain Containing 5 2 3
  • KLHDC5 3 4
  • Ctb9 3 4
  • Kelch-Like Protein 42 3
  • KIAA1340 4

External Ids for KLHL42 Gene

Previous HGNC Symbols for KLHL42 Gene

  • KLHDC5

Previous GeneCards Identifiers for KLHL42 Gene

  • GC12P027932

Summaries for KLHL42 Gene

GeneCards Summary for KLHL42 Gene

KLHL42 (Kelch Like Family Member 42) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KBTBD11.

UniProtKB/Swiss-Prot for KLHL42 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis.

Additional gene information for KLHL42 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL42 Gene

Genomics for KLHL42 Gene

GeneHancer (GH) Regulatory Elements for KLHL42 Gene

Promoters and enhancers for KLHL42 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
GH12I027778 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.7 654 3.4 HDGF ATF1 SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ELK1 ZNF202 MXD4 KLHL42 PIR40701 ENSG00000256747 C12orf71 LOC729222 ENSG00000257042
GH12I027779 Enhancer 0.6 FANTOM5 dbSUPER 550.8 -1.2 -1239 0.3 ZNF202 PPARG KLHL42 ENSG00000257042 C12orf71 LOC729222 MANSC4
GH12I027709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.7 -68.9 -68918 3 HDGF FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ENSG00000256377 MRPS35 MANSC4 C12orf71 KLHL42 MED21 HMGB1P49 ENSG00000252585
GH12I027695 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 12 -83.0 -83001 2 SOX13 FOXA2 MAX ZNF384 CEBPG ZSCAN9 HNF4G SMARCC2 CREM GATAD2A REP15 MANSC4 KLHL42 ENSG00000276261 ENSG00000256377
GH12I027746 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.1 -32.2 -32179 2.6 FOXA2 TAF1 MAX RAD21 YY1 FOSL2 RXRA FOXA3 HLF CEBPB KLHL42 ENSG00000256377 MANSC4 ENSG00000252585 MRPS35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL42 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KLHL42 Gene

Genomic Locations for KLHL42 Gene
chr12:27,779,958-27,803,040
(GRCh38/hg38)
Size:
23,083 bases
Orientation:
Plus strand
chr12:27,932,953-27,955,973
(GRCh37/hg19)

Genomic View for KLHL42 Gene

Genes around KLHL42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL42 Gene

Proteins for KLHL42 Gene

  • Protein details for KLHL42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2K6-KLH42_HUMAN
    Recommended name:
    Kelch-like protein 42
    Protein Accession:
    Q9P2K6
    Secondary Accessions:
    • Q2VPK1
    • Q8N334

    Protein attributes for KLHL42 Gene

    Size:
    505 amino acids
    Molecular mass:
    56868 Da
    Quaternary structure:
    • Component of the BCR(KLHL42) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL42. Interacts (via the BTB domain) with CUL3. Interacts (via the kelch domains) with KATNA1.
    SequenceCaution:
    • Sequence=AAH28742.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for KLHL42 Gene

Post-translational modifications for KLHL42 Gene

Other Protein References for KLHL42 Gene

No data available for DME Specific Peptides for KLHL42 Gene

Domains & Families for KLHL42 Gene

Gene Families for KLHL42 Gene

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL42: view

No data available for UniProtKB/Swiss-Prot for KLHL42 Gene

Function for KLHL42 Gene

Molecular function for KLHL42 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis.
UniProtKB/Swiss-Prot Induction:
Up-regulated during mitosis.

Phenotypes From GWAS Catalog for KLHL42 Gene

Gene Ontology (GO) - Molecular Function for KLHL42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 19261606
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KLHL42: view
genes like me logo Genes that share phenotypes with KLHL42: view

Animal Model Products

CRISPR Products

miRNA for KLHL42 Gene

miRTarBase miRNAs that target KLHL42

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL42 Gene

Localization for KLHL42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL42 Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=Predominantly in mitotic cells. Localized diffusely in the cytoplasm during the interphase. During metaphase is localized throughout the cell and more widely dispersed than the microtubules. In anaphase cells is localized between the two sets of separated chromosomes as well as at the spindle poles. During telophase is localized arround the nuclei of the two daughter cells. Not detected at the midbody region during cytokinesis.

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 KLHL42 gene
Compartment Confidence
cytosol 5
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for KLHL42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 19261606
genes like me logo Genes that share ontologies with KLHL42: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLHL42 Gene

Pathways & Interactions for KLHL42 Gene

genes like me logo Genes that share pathways with KLHL42: view

UniProtKB/Swiss-Prot Q9P2K6-KLH42_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19261606
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032886 regulation of microtubule-based process IMP 19261606
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 19261606
genes like me logo Genes that share ontologies with KLHL42: view

No data available for SIGNOR curated interactions for KLHL42 Gene

Drugs & Compounds for KLHL42 Gene

No Compound Related Data Available

Transcripts for KLHL42 Gene

Unigene Clusters for KLHL42 Gene

Kelch-like family member 42:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL42 Gene

No ASD Table

Relevant External Links for KLHL42 Gene

GeneLoc Exon Structure for
KLHL42
ECgene alternative splicing isoforms for
KLHL42

Expression for KLHL42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL42 Gene

This gene is overexpressed in Urinary Bladder (13.8), Colon (8.0), Seminal vesicle (7.2), Testis (6.7), and Fetal Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL42 Gene



Protein tissue co-expression partners for KLHL42 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL42 Gene:

KLHL42

SOURCE GeneReport for Unigene cluster for KLHL42 Gene:

Hs.505104

Evidence on tissue expression from TISSUES for KLHL42 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with KLHL42: view

Primer Products

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 KLHL42 Gene

Orthologs for KLHL42 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHDC5 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia KLHL42 33 34
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia KLHL42 34
  • 92 (a)
OneToOne
KLHDC5 33
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Klhl42 33 16 34
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Klhl42 33
  • 86.41 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL42 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC5 33
  • 73.47 (n)
KLHL42 34
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL42 34
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii klhl42 33 34
  • 67.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1812 34
  • 17 (a)
OneToMany
Species where no ortholog for KLHL42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL42 Gene

ENSEMBL:
Gene Tree for KLHL42 (if available)
TreeFam:
Gene Tree for KLHL42 (if available)

Paralogs for KLHL42 Gene

Paralogs for KLHL42 Gene

(2) SIMAP similar genes for KLHL42 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KLHL42: view

Variants for KLHL42 Gene

Sequence variations from dbSNP and Humsavar for KLHL42 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000117258 -- 27,785,550(+) A/G intron_variant
rs1000165570 -- 27,789,718(+) T/C intron_variant
rs1000189617 -- 27,786,866(+) G/C intron_variant
rs1000812772 -- 27,797,028(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000885249 -- 27,798,828(+) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL42 Gene

Variant ID Type Subtype PubMed ID
nsv557863 CNV loss 21841781
nsv557861 CNV gain 21841781
nsv557845 CNV gain 21841781
nsv557838 CNV loss 21841781
nsv557829 CNV gain+loss 21841781
nsv557824 CNV gain 21841781
esv28802 CNV loss 19812545
esv2745664 CNV deletion 23290073
dgv2429n54 CNV loss 21841781
dgv2428n54 CNV loss 21841781
dgv2427n54 CNV loss 21841781
dgv2426n54 CNV gain 21841781
dgv2425n54 CNV gain+loss 21841781
dgv2424n54 CNV gain 21841781
dgv2423n54 CNV gain+loss 21841781
dgv2422n54 CNV gain+loss 21841781
dgv2421n54 CNV gain 21841781

Variation tolerance for KLHL42 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL42 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL42 Gene

Disorders for KLHL42 Gene

Additional Disease Information for KLHL42

No disorders were found for KLHL42 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL42 Gene

Publications for KLHL42 Gene

  1. The Cul3/Klhdc5 E3 ligase regulates p60/katanin and is required for normal mitosis in mammalian cells. (PMID: 19261606) Cummings CM … Singer JD (The Journal of biological chemistry 2009) 2 3 4 58
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for KLHL42 Gene

Sources for KLHL42 Gene

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