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Aliases for KLHL18 Gene

Aliases for KLHL18 Gene

  • Kelch Like Family Member 18 2 3 5
  • Kelch-Like 18 (Drosophila) 2
  • KIAA0795 4

External Ids for KLHL18 Gene

Previous GeneCards Identifiers for KLHL18 Gene

  • GC03P047299
  • GC03P047325

Summaries for KLHL18 Gene

GeneCards Summary for KLHL18 Gene

KLHL18 (Kelch Like Family Member 18) is a Protein Coding gene. An important paralog of this gene is KLHL17.

Gene Wiki entry for KLHL18 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL18 Gene

Genomics for KLHL18 Gene

Regulatory Elements for KLHL18 Gene

Enhancers for KLHL18 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
GH03F048085 1.2 FANTOM5 Ensembl ENCODE 17.1 +805.1 805061 5.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF589 KLHL18 FCF1P2 LOC105377080 MAP4 ENSG00000270285
GH03F047259 0.9 Ensembl 12.3 -23.3 -23340 0.2 KIF9 KLHL18 KIF9-AS1 SETD2 SNORD13P3
GH03F047260 0.2 Ensembl 12.3 -22.9 -22940 0.2 ELF3 SOX13 SAP130 ARID4B CEBPG CREM HOMEZ GATAD2A SOX5 HMG20B KIF9 KLHL18 KIF9-AS1 SETD2 SNORD13P3
GH03F047313 0.9 Ensembl ENCODE 12 +32.0 32034 2.1 ATF1 ARNT CREB3L1 ELK1 GATA2 NCOA1 REST SMARCA4 MYNN NBN KIF9 KLHL18 SETD2 ZNF589 FCF1P2 KIF9-AS1 PTH1R MYL3 GC03P047316
GH03F047316 0.5 Ensembl 11.7 +33.4 33361 0.4 ZNF316 ZKSCAN8 ADNP CEBPB KIF9 KLHL18 KIF9-AS1 SETD2 PRSS45 PTH1R GC03P047316
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLHL18 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001363183 -40 2801 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YBX1

Genomic Location for KLHL18 Gene

Chromosome:
3
Start:
47,282,840 bp from pter
End:
47,346,816 bp from pter
Size:
63,977 bases
Orientation:
Plus strand

Genomic View for KLHL18 Gene

Genes around KLHL18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL18 Gene

Proteins for KLHL18 Gene

  • Protein details for KLHL18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94889-KLH18_HUMAN
    Recommended name:
    Kelch-like protein 18
    Protein Accession:
    O94889
    Secondary Accessions:
    • A8K612
    • Q7Z3E8
    • Q8N125

    Protein attributes for KLHL18 Gene

    Size:
    574 amino acids
    Molecular mass:
    63638 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32620.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97920.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL18 Gene

Post-translational modifications for KLHL18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLHL18 Gene

Domains & Families for KLHL18 Gene

Gene Families for KLHL18 Gene

Graphical View of Domain Structure for InterPro Entry

O94889

UniProtKB/Swiss-Prot:

KLH18_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL18: view

Function for KLHL18 Gene

Gene Ontology (GO) - Molecular Function for KLHL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KLHL18: view
genes like me logo Genes that share phenotypes with KLHL18: view

Animal Models for KLHL18 Gene

MGI Knock Outs for KLHL18:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL18 Gene

Localization for KLHL18 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL18 Gene COMPARTMENTS Subcellular localization image for KLHL18 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KLHL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHL18: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL18 Gene

Pathways & Interactions for KLHL18 Gene

SuperPathways for KLHL18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHL18: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL18 Gene

Transcripts for KLHL18 Gene

Unigene Clusters for KLHL18 Gene

Kelch-like family member 18:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL18 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14
SP1: - - - - - -
SP2: - -
SP3: - - - - -
SP4:
SP5: - - -
SP6: - - - - - -
SP7: -
SP8: -
SP9:

Relevant External Links for KLHL18 Gene

GeneLoc Exon Structure for
KLHL18
ECgene alternative splicing isoforms for
KLHL18

Expression for KLHL18 Gene

mRNA expression in normal human tissues for KLHL18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL18 Gene

This gene is overexpressed in Retina (39.9) and Testis (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL18 Gene



Protein tissue co-expression partners for KLHL18 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL18 Gene:

KLHL18

SOURCE GeneReport for Unigene cluster for KLHL18 Gene:

Hs.517946
genes like me logo Genes that share expression patterns with KLHL18: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLHL18 Gene

Orthologs for KLHL18 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL18 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia KLHL18 35
  • 96 (a)
OneToOne
LOC100847139 34
  • 91.7 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL18 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL18 34 35
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Klhl18 34 16 35
  • 91.11 (n)
rat
(Rattus norvegicus)
Mammalia Klhl18 34
  • 90.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 39 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KLHL18 34 35
  • 83.54 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL18 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl18 34
  • 79.63 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl18 34 35
  • 74.63 (n)
wufi18c08 34
fruit fly
(Drosophila melanogaster)
Insecta KLHL18 34 35
  • 58.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011142 34
  • 57.95 (n)
worm
(Caenorhabditis elegans)
Secernentea kel-3 34 35
  • 50 (n)
Species where no ortholog for KLHL18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for KLHL18 Gene

ENSEMBL:
Gene Tree for KLHL18 (if available)
TreeFam:
Gene Tree for KLHL18 (if available)

Paralogs for KLHL18 Gene

Variants for KLHL18 Gene

Sequence variations from dbSNP and Humsavar for KLHL18 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10490798 -- 47,287,254(+) AAAGG(C/T)GGTAT intron-variant
rs10586716 -- 47,341,916(+) AAAAA(-/AA)GGAGA intron-variant
rs10599431 -- 47,294,660(+) CAGCA(-/CA)GTTCC intron-variant
rs10687949 -- 47,300,647(+) TTTTT(-/TTTTTT)GAGAC intron-variant
rs1076394 -- 47,281,291(+) TCCAG(A/G)TGCAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KLHL18 Gene

Variant ID Type Subtype PubMed ID
esv2417653 CNV deletion 18987734
nsv1007714 CNV gain 25217958
nsv1076853 CNV insertion 25765185
nsv1116986 CNV deletion 24896259
nsv1117335 CNV tandem duplication 24896259
nsv1151504 CNV insertion 26484159
nsv428417 CNV loss 18775914
nsv955590 CNV deletion 24416366

Variation tolerance for KLHL18 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL18 Gene

Disorders for KLHL18 Gene

Relevant External Links for KLHL18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL18

No disorders were found for KLHL18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL18 Gene

Publications for KLHL18 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for KLHL18 Gene

Sources for KLHL18 Gene

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