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Aliases for KLHL13 Gene

Aliases for KLHL13 Gene

  • Kelch Like Family Member 13 2 3 5
  • BKLHD2 3 4
  • BTB And Kelch Domain Containing 2, KIAA1309 2
  • BTB And Kelch Domain-Containing Protein 2 4
  • BTB And Kelch Domain Containing 2 3
  • Kelch-Like 13 (Drosophila) 2
  • Kelch-Like Protein 13 3
  • Kelch-Like 13 3
  • KIAA1309 4

External Ids for KLHL13 Gene

Previous HGNC Symbols for KLHL13 Gene

  • BKLHD2
  • KIAA1309

Previous GeneCards Identifiers for KLHL13 Gene

  • GC0XM115786
  • GC0XM116813
  • GC0XM116915
  • GC0XM117031
  • GC0XM106526

Summaries for KLHL13 Gene

Entrez Gene Summary for KLHL13 Gene

  • This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for KLHL13 Gene

KLHL13 (Kelch Like Family Member 13) 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 KLHL9.

UniProtKB/Swiss-Prot for KLHL13 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL13 Gene

Genomics for KLHL13 Gene

Regulatory Elements for KLHL13 Gene

Enhancers for KLHL13 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
GH0XG118238 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -122.5 -122506 3.6 FOS NFE2 NFE2L2 KLHL13 PIR45613 RPL12P43
GH0XG118224 1 Ensembl ENCODE 4.8 -108.3 -108276 1.5 CTCF PKNOX1 JUN ZSCAN4 MAX ZNF76 RAD21 GATA2 ZNF143 SMC3 KLHL13 PIR45613 RPL12P43
GH0XG118247 0.2 dbSUPER 5.4 -130.8 -130808 0.7 KLHL13 PIR45613 RPL12P43
GH0XG118220 0.2 ENCODE 4.7 -103.3 -103253 0.2 KLHL13 PIR45613 RPL12P43
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL13 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248235 1039 2599 CTCF RBBP5 ZIC2 RAD21 GLIS2 POLR2A PHF8 RFX1 ZNF740 L3MBTL2

Genomic Location for KLHL13 Gene

Chromosome:
X
Start:
117,897,813 bp from pter
End:
118,117,340 bp from pter
Size:
219,528 bases
Orientation:
Minus strand

Genomic View for KLHL13 Gene

Genes around KLHL13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL13 Gene

Proteins for KLHL13 Gene

  • Protein details for KLHL13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2N7-KLH13_HUMAN
    Recommended name:
    Kelch-like protein 13
    Protein Accession:
    Q9P2N7
    Secondary Accessions:
    • B3KV78
    • B3KWM7
    • B7Z3S9
    • B7Z5P2
    • B7Z802
    • D3DWH6
    • Q6P2E3
    • Q96QI7
    • Q9UDN9

    Protein attributes for KLHL13 Gene

    Size:
    655 amino acids
    Molecular mass:
    73868 Da
    Quaternary structure:
    • Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB.
    SequenceCaution:
    • Sequence=BAA92547.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC41335.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL13 Gene

Post-translational modifications for KLHL13 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5213, posLast=221221, isoforms=2, 3, 4, 5277, posLast=280280, and posLast=370370
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHL13 Gene

Domains & Families for KLHL13 Gene

Gene Families for KLHL13 Gene

Suggested Antigen Peptide Sequences for KLHL13 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL13: view

No data available for UniProtKB/Swiss-Prot for KLHL13 Gene

Function for KLHL13 Gene

Molecular function for KLHL13 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(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Gene Ontology (GO) - Molecular Function for KLHL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 17543862
genes like me logo Genes that share ontologies with KLHL13: view

Phenotypes for KLHL13 Gene

genes like me logo Genes that share phenotypes with KLHL13: view

Animal Model Products

CRISPR Products

miRNA for KLHL13 Gene

miRTarBase miRNAs that target KLHL13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL13 Gene

Localization for KLHL13 Gene

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 KLHL13 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KLHL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030496 midbody IBA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 17543862
genes like me logo Genes that share ontologies with KLHL13: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL13 Gene

Pathways & Interactions for KLHL13 Gene

genes like me logo Genes that share pathways with KLHL13: view

Pathways by source for KLHL13 Gene

UniProtKB/Swiss-Prot Q9P2N7-KLH13_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for KLHL13 Gene

Gene Ontology (GO) - Biological Process for KLHL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis IMP 17543862
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KLHL13: view

No data available for SIGNOR curated interactions for KLHL13 Gene

Drugs & Compounds for KLHL13 Gene

No Compound Related Data Available

Transcripts for KLHL13 Gene

Unigene Clusters for KLHL13 Gene

Kelch-like family member 13:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL13 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2:
SP3: - - - -
SP4: -
SP5:

Relevant External Links for KLHL13 Gene

GeneLoc Exon Structure for
KLHL13
ECgene alternative splicing isoforms for
KLHL13

Expression for KLHL13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL13 Gene

mRNA differential expression in normal tissues according to GTEx for KLHL13 Gene

This gene is overexpressed in Uterus (x4.3).

Protein differential expression in normal tissues from HIPED for KLHL13 Gene

This gene is overexpressed in Plasma (55.1) and Gallbladder (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL13 Gene



Protein tissue co-expression partners for KLHL13 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL13 Gene:

KLHL13

SOURCE GeneReport for Unigene cluster for KLHL13 Gene:

Hs.348262

Evidence on tissue expression from TISSUES for KLHL13 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with KLHL13: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL13 Gene

Orthologs for KLHL13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL13 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLHL13 34 35
  • 95.01 (n)
chimpanzee
(Pan troglodytes)
Mammalia KLHL13 34
  • 94.74 (n)
dog
(Canis familiaris)
Mammalia KLHL13 34 35
  • 94.53 (n)
mouse
(Mus musculus)
Mammalia Klhl13 34 16 35
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Klhl13 34
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves KLHL13 35
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3560 34
zebrafish
(Danio rerio)
Actinopterygii klhl13 35
  • 91 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
Species where no ortholog for KLHL13 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 KLHL13 Gene

ENSEMBL:
Gene Tree for KLHL13 (if available)
TreeFam:
Gene Tree for KLHL13 (if available)

Paralogs for KLHL13 Gene

Variants for KLHL13 Gene

Sequence variations from dbSNP and Humsavar for KLHL13 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000013080 -- 117,960,570(+) ACTGC(C/T)AGCTA intron-variant
rs1000021844 -- 117,912,695(+) CCTTC(C/T)GAACT intron-variant
rs1000026730 -- 118,022,964(+) CTCTT(C/T)CTGAT intron-variant
rs1000075131 -- 117,923,655(+) TACTT(C/T)TTTTT intron-variant
rs1000080311 -- 117,951,848(+) CAAAG(A/G)ACATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL13 Gene

Variant ID Type Subtype PubMed ID
esv3305959 CNV mobile element insertion 20981092
esv3306915 CNV mobile element insertion 20981092
esv3324956 CNV insertion 20981092
esv3574402 CNV loss 25503493
nsv1125120 CNV duplication 24896259
nsv510855 CNV deletion 20534489
nsv526997 CNV gain 19592680

Variation tolerance for KLHL13 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL13 Gene

Human Gene Mutation Database (HGMD)
KLHL13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL13 Gene

Disorders for KLHL13 Gene

Relevant External Links for KLHL13

Genetic Association Database (GAD)
KLHL13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL13

No disorders were found for KLHL13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL13 Gene

Publications for KLHL13 Gene

  1. 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) 2 3 4 64
  2. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PMID: 19995937) Maerki S. … Peter M. (J. Cell Biol. 2009) 3 4 64
  3. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PMID: 19084217) Benyamin B. … Visscher P.M. (Am. J. Hum. Genet. 2009) 3 46 64
  4. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. (PMID: 17543862) Sumara I. … Peter M. (Dev. Cell 2007) 3 4 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64

Products for KLHL13 Gene

Sources for KLHL13 Gene

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