Aliases for KLHL42 Gene

Aliases for KLHL42 Gene

  • Kelch Like Family Member 42 2 3 5
  • Ctb9 2 3 4
  • Kelch Domain-Containing Protein 5 3 4
  • Cullin-3-Binding Protein 9 3 4
  • Kelch Domain Containing 5 2 3
  • Kelch-Like Protein 42 3 4
  • KIAA1340 2 4
  • KLHDC5 3 4
  • KLHL42 5

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. Diseases associated with KLHL42 include Bardet-Biedl Syndrome 10. 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 KLHL13.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for KLHL42 Gene

Genomics for KLHL42 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLHL42 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL42 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL42

Genomic Locations for KLHL42 Gene

Latest Assembly
chr12:27,780,048-27,803,040
(GRCh38/hg38)
Size:
22,993 bases
Orientation:
Plus strand

Previous Assembly
chr12:27,933,166-27,955,973
(GRCh37/hg19 by Entrez Gene)
Size:
22,808 bases
Orientation:
Plus strand

chr12:27,932,953-27,955,973
(GRCh37/hg19 by Ensembl)
Size:
23,021 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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for KLHL42 Gene

Post-translational modifications for KLHL42 Gene

  • Ubiquitination at Lys502
  • 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

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

Protein Domains for KLHL42 Gene

Suggested Antigen Peptide Sequences for KLHL42 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38086 fis, clone CTONG2018632, highly similar to Kelch domain-containing protein 5 (B2RNT7_HUMAN)
  • Kelch domain-containing protein 5 (KLDC5_HUMAN)
genes like me logo Genes that share domains with KLHL42: view

No data available for Graphical View of Domain Structure and 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 IEA,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 Models for KLHL42 Gene

MGI Knock Outs for KLHL42:
  • Klhl42 Klhl42<tm1b(EUCOMM)Hmgu>

miRNA for KLHL42 Gene

miRTarBase miRNAs that target KLHL42

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL42

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 4
cytoskeleton 3
extracellular 1
nucleus 1

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 IBA,IMP 19261606
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA,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

mRNA/cDNA for KLHL42 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL42

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

No ASD Table

Relevant External Links for KLHL42 Gene

GeneLoc Exon Structure for
KLHL42

Expression for KLHL42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for KLHL42 Gene



Protein tissue co-expression partners for KLHL42 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 30 31
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KLHL42 30 31
  • 93.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLHL42 31
  • 92 (a)
OneToOne
KLHDC5 30
  • 91.55 (n)
Mouse
(Mus musculus)
Mammalia Klhl42 30 17 31
  • 87.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Klhl42 30
  • 86.41 (n)
Oppossum
(Monodelphis domestica)
Mammalia KLHL42 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KLHDC5 30
  • 73.47 (n)
KLHL42 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KLHL42 31
  • 62 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii klhl42 30 31
  • 67.39 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG1812 31
  • 17 (a)
OneToMany
Species where no ortholog for KLHL42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL42: view image

Paralogs for KLHL42 Gene

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

  • KLH42_HUMAN
  • F5H523_HUMAN
  • H0YGN2_HUMAN
genes like me logo Genes that share paralogs with KLHL42: view

Variants for KLHL42 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLHL42 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KLHL42 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL42 Gene

Disorders for KLHL42 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL42 Gene - From: COP

Disorder Aliases PubMed IDs
bardet-biedl syndrome 10
  • bbs10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHL42

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

No data available for 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
  2. Kelch-like protein 42 is a profibrotic ubiquitin E3 ligase involved in systemic sclerosis. (PMID: 32071084) Lear TB … Chen BB (The Journal of biological chemistry 2020) 2 3
  3. 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
  4. 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
  5. 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

Products for KLHL42 Gene

Sources for KLHL42 Gene