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Aliases for KLHL24 Gene

Aliases for KLHL24 Gene

  • Kelch Like Family Member 24 2 3 5
  • KRIP6 3 4
  • DRE1 3 4
  • Kainate Receptor Interacting Protein For GluR6 3
  • Kainate Receptor-Interacting Protein For GluR6 4
  • Kelch-Like 24 (Drosophila) 2
  • Kelch-Like Protein 24 3
  • Kelch-Like 24 3
  • Protein DRE1 4
  • EBSSH 3

External Ids for KLHL24 Gene

Previous GeneCards Identifiers for KLHL24 Gene

  • GC03P184837
  • GC03P183353
  • GC03P180759

Summaries for KLHL24 Gene

Entrez Gene Summary for KLHL24 Gene

  • The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

GeneCards Summary for KLHL24 Gene

KLHL24 (Kelch Like Family Member 24) is a Protein Coding gene. Diseases associated with KLHL24 include Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss and Epidermolysis Bullosa Simplex, Koebner Type. An important paralog of this gene is KLHL35.

UniProtKB/Swiss-Prot for KLHL24 Gene

  • Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity).

Additional gene information for KLHL24 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL24 Gene

Genomics for KLHL24 Gene

Regulatory Elements for KLHL24 Gene

Enhancers for KLHL24 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
GH03H183536 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14 -97.6 -97617 2 HDGF BATF TCF12 GATA2 ZNF143 ATF7 ETV6 RUNX3 CREM IKZF2 KLHL6 KLHL24 B3GNT5 YEATS2 MCF2L2 KLHL6-AS1 ENSG00000271682
GH03H183539 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -93.8 -93776 2 HDGF BMI1 BATF ZNF366 ATF7 ETV6 RUNX3 CREM IKZF2 SMARCA5 KLHL6 B3GNT5 KLHL24 YEATS2 MCF2L2 KLHL6-AS1 ENSG00000271682
GH03H183513 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -121.4 -121414 0 ZNF687 MAX ELF1 ZNF592 GABPA IKZF1 NR2C1 ZBTB33 MLLT1 CREM KLHL6 B3GNT5 KLHL24 YEATS2 YEATS2-AS1 KLHL6-AS1 ENSG00000271682
GH03H183527 1.4 FANTOM5 ENCODE dbSUPER 13.2 -107.1 -107110 1 HDGF TBL1XR1 RB1 BMI1 YBX1 BATF ATF7 ETV6 RUNX3 IKZF2 KLHL6 B3GNT5 KLHL24 ENSG00000199363 ENSG00000251730 ENSG00000253092 SNORA63D LINC00888 YEATS2 KLHL6-AS1
GH03H183634 1.3 ENCODE dbSUPER 13.3 +1.6 1636 3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 ZNF143 POLR2H YEATS2 DVL3 MCCC1-AS1 PARL KLHL24 RPS3P3 EIF2B5 KLHL6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL24 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162835 1289 2201 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 ZNF143

Genomic Location for KLHL24 Gene

Chromosome:
3
Start:
183,635,011 bp from pter
End:
183,684,519 bp from pter
Size:
49,509 bases
Orientation:
Plus strand

Genomic View for KLHL24 Gene

Genes around KLHL24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL24 Gene

Proteins for KLHL24 Gene

  • Protein details for KLHL24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TFL4-KLH24_HUMAN
    Recommended name:
    Kelch-like protein 24
    Protein Accession:
    Q6TFL4
    Secondary Accessions:
    • A5PLN8
    • Q9H620
    • Q9NXT9

    Protein attributes for KLHL24 Gene

    Size:
    600 amino acids
    Molecular mass:
    68361 Da
    Quaternary structure:
    • Forms homodimers. Interacts with GRIK2 (By similarity). Component of the BCR(KLHL24) E3 ubiquitin ligase complex, composed of CUL3, RBX1 and KLHL24. Interacts with CUL3. Interacts with KRT14 (PubMed:27798626).
    SequenceCaution:
    • Sequence=BAA90921.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15447.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL24 Gene

Post-translational modifications for KLHL24 Gene

  • Autoubiquitinated. Autoubiquitination leads to proteasomal degradation and is necessary to control KLHL24 levels.
  • Ubiquitination at isoforms=2181 and posLast=441441
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHL24 Gene

Domains & Families for KLHL24 Gene

Gene Families for KLHL24 Gene

Suggested Antigen Peptide Sequences for KLHL24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL24: view

No data available for UniProtKB/Swiss-Prot for KLHL24 Gene

Function for KLHL24 Gene

Molecular function for KLHL24 Gene

UniProtKB/Swiss-Prot Function:
Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity).

Gene Ontology (GO) - Molecular Function for KLHL24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 27798626
genes like me logo Genes that share ontologies with KLHL24: view

Phenotypes for KLHL24 Gene

genes like me logo Genes that share phenotypes with KLHL24: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHL24
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL24 Gene

Localization for KLHL24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL24 Gene

Perikaryon. Cell projection, axon. Cytoplasm. Cell junction, desmosome. Cell junction, adherens junction.

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 KLHL24 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KLHL24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 27889062
GO:0005912 adherens junction IEA,IDA 27889062
GO:0030054 cell junction IEA --
GO:0030057 desmosome IEA,IDA 27889062
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with KLHL24: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLHL24 Gene

Pathways & Interactions for KLHL24 Gene

SuperPathways for KLHL24 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IDA 27798626
GO:0045109 intermediate filament organization IMP 27889062
GO:0051865 protein autoubiquitination IMP 27798626
GO:2000312 regulation of kainate selective glutamate receptor activity IEA --
genes like me logo Genes that share ontologies with KLHL24: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL24 Gene

Drugs & Compounds for KLHL24 Gene

No Compound Related Data Available

Transcripts for KLHL24 Gene

Unigene Clusters for KLHL24 Gene

Kelch-like family member 24:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHL24
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL24 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - - - -
SP2: - - - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: -
SP11: - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - -
SP14: -

Relevant External Links for KLHL24 Gene

GeneLoc Exon Structure for
KLHL24
ECgene alternative splicing isoforms for
KLHL24

Expression for KLHL24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL24 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of KLHL24 Gene:

KLHL24

SOURCE GeneReport for Unigene cluster for KLHL24 Gene:

Hs.407709

mRNA Expression by UniProt/SwissProt for KLHL24 Gene:

Q6TFL4-KLH24_HUMAN
Tissue specificity: Expressed in the skin (PubMed:27889062, PubMed:27798626). Found in keratinocytes, dermal fibroblasts, and melanocytes (PubMed:27889062). Basal-layer keratinocytes have lower KLHL24 expression than suprabasal keratinocytes (PubMed:27798626).

Evidence on tissue expression from TISSUES for KLHL24 Gene

  • Intestine(4.2)
  • Skin(3.4)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with KLHL24: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL24 Gene

Orthologs for KLHL24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL24 33 34
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL24 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL24 33 34
  • 95.44 (n)
cow
(Bos Taurus)
Mammalia KLHL24 33 34
  • 95.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL24 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl24 33 16 34
  • 91.94 (n)
rat
(Rattus norvegicus)
Mammalia Klhl24 33
  • 91.22 (n)
chicken
(Gallus gallus)
Aves KLHL24 34
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL24 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl24 33
  • 78.78 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl24b 34
  • 85 (a)
OneToMany
klhl24a 33 34
  • 70.07 (n)
zgc63606 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for KLHL24 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)
  • 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 KLHL24 Gene

ENSEMBL:
Gene Tree for KLHL24 (if available)
TreeFam:
Gene Tree for KLHL24 (if available)

Paralogs for KLHL24 Gene

Variants for KLHL24 Gene

Sequence variations from dbSNP and Humsavar for KLHL24 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1057515580 Pathogenic 183,650,358(+) AACAA(C/T)GGTAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs886037956 Pathogenic 183,650,357(+) TAACA(A/G)TGGTA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs886037957 Pathogenic 183,650,359(+) ACAAT(A/G/T)GTACT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000050874 -- 183,652,199(+) CTTAG(A/G)GGGTA intron-variant
rs1000052911 -- 183,659,443(+) GAGGC(A/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL24 Gene

Variant ID Type Subtype PubMed ID
esv1329997 CNV insertion 17803354
esv2660932 CNV deletion 23128226
esv27076 CNV loss 19812545
esv3598924 CNV gain 21293372
esv3598930 CNV loss 21293372
nsv1116017 CNV insertion 24896259
nsv1136787 CNV deletion 24896259

Variation tolerance for KLHL24 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 71.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL24 Gene

Human Gene Mutation Database (HGMD)
KLHL24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL24 Gene

Disorders for KLHL24 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KLHL24 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa simplex, generalized, with scarring and hair loss
  • ebssh
epidermolysis bullosa simplex, other generalized
  • epidermolysis bullosa simplex, koebner type
epidermolysis bullosa simplex, koebner type
  • epidermolysis bullosa simplex, generalized
epidermolysis bullosa simplex
  • epidermolysis bullosa intraepidermic
epidermolysis bullosa
  • acantholysis bullosa
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLH24_HUMAN
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss (EBSSH) [MIM:617294]: A form of epidermolysis bullosa, a group of mechano-bullous disorders characterized by structural skin fragility, recurrent blister formation and erosion of the skin and mucous membranes occurring spontaneously or after mild trauma. Epidermolysis bullosa simplex is characterized by intraepidermal tissue separation that occurs within the basal keratinocytes at the bottom layer of epidermis. EBSSH is an autosomal dominant epidermolysis bullosa simplex, presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. {ECO:0000269 PubMed:27798626, ECO:0000269 PubMed:27889062}. Note=The disease is caused by mutations affecting the gene represented in this entry. Gain-of-function mutations that lead to excessive ubiquitination and degradation of KRT14 result in compromised mechanical integrity of basal keratinocytes. Under this pathological condition, trivial mechanical stress can induce blister formation at the basal layer of skin. {ECO:0000269 PubMed:27798626}.

Relevant External Links for KLHL24

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL24
genes like me logo Genes that share disorders with KLHL24: view

No data available for Genatlas for KLHL24 Gene

Publications for KLHL24 Gene

  1. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. (PMID: 27798626) Lin Z … Tan X (Nature genetics 2016) 3 4 60
  2. Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. (PMID: 27889062) He Y … Has C (American journal of human genetics 2016) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex. (PMID: 28111128) Lee JY … McGrath JA (The Journal of investigative dermatology 2017) 3 60

Products for KLHL24 Gene

Sources for KLHL24 Gene

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