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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. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KLHL13.

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.

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

Regulatory Elements for KLHL42 Gene

Enhancers for KLHL42 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
GH12G027746 1.4 Ensembl ENCODE dbSUPER 15.1 -32.2 -32180 2.6 ELF3 FOXA2 RAD21 YY1 RARA ETV6 FOS IKZF2 THAP11 SP5 KLHL42 ENSG00000256377 MANSC4 ENSG00000252585 MRPS35
GH12G027709 1.2 ENCODE 12.6 -68.9 -68919 3.0 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ENSG00000256377 MANSC4 KLHL42 HMGB1P49 MRPS35 ENSG00000252585
GH12G027695 1 Ensembl ENCODE 12 -83.0 -83001 2.0 SOX13 FOXA2 MAX CEBPG ZNF384 ZSCAN9 KAT2B NCOR1 HNF4G CREM MANSC4 KLHL42 REP15 ENSG00000276261
GH12G027751 1.1 ENCODE dbSUPER 10.5 -27.8 -27799 1.8 CBX3 BACH1 MAX RBBP5 YY1 ZNF316 NFE2 MAFK TCF7L2 NFE2L2 KLHL42 PTHLH ENSG00000256377 MANSC4 ENSG00000252585 MRPS35
GH12G027808 0.4 ENCODE 15.5 +29.1 29065 0.2 SMARCA4 KLHL42 MANSC4 ENSG00000257042 GC12M027808 RN7SKP15 LOC105369709
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL42 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL42 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000050204 342 1801 HDGF SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ELK1 ZNF263 MXD4 REST

Genomic Location for KLHL42 Gene

Chromosome:
12
Start:
27,779,958 bp from pter
End:
27,803,040 bp from pter
Size:
23,083 bases
Orientation:
Plus strand

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

  • Ubiquitination at posLast=502502
  • Modification sites at PhosphoSitePlus

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

Protein Domains for KLHL42 Gene

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.

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

Clone 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
cytoskeleton 3
cytosol 2

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

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:0007067 mitotic nuclear division IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032886 regulation of microtubule-based process IMP 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

Clone 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 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia KLHL42 34 35
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia KLHL42 35
  • 92 (a)
OneToOne
KLHDC5 34
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Klhl42 34 16 35
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Klhl42 34
  • 86.41 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL42 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC5 34
  • 73.47 (n)
KLHL42 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL42 35
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii klhl42 34 35
  • 67.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1812 35
  • 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

(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 Sequence Context AA Info Type
rs1000117258 -- 27,785,550(+) ATTGT(A/G)CCCTT intron-variant
rs1000165570 -- 27,789,718(+) CATGG(C/T)TGGAT intron-variant
rs1000189617 -- 27,786,866(+) TACAG(C/G)TGCCC intron-variant
rs1000812772 -- 27,797,028(+) GACAT(A/G)GGAAA intron-variant
rs1000885249 -- 27,798,828(+) GCTGG(A/C)TAAAT nc-transcript-variant, utr-variant-3-prime

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

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

Relevant External Links 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

Relevant External Links for KLHL42

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.M. … Singer J.D. (J. Biol. Chem. 2009) 2 3 4 64
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 2000) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for KLHL42 Gene

Sources for KLHL42 Gene

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