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Aliases for KLHL9 Gene

Aliases for KLHL9 Gene

  • Kelch Like Family Member 9 2 3 5
  • Kelch-Like 9 (Drosophila) 2
  • KIAA1354 4

External Ids for KLHL9 Gene

Previous GeneCards Identifiers for KLHL9 Gene

  • GC00U991232
  • GC09U900612
  • GC09M021322

Summaries for KLHL9 Gene

Entrez Gene Summary for KLHL9 Gene

  • This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

GeneCards Summary for KLHL9 Gene

KLHL9 (Kelch Like Family Member 9) is a Protein Coding gene. Diseases associated with KLHL9 include Klhl9-Related Childhood-Onset Distal Myopathy. Among its related pathways are 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 KLHL9 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL9 Gene

Genomics for KLHL9 Gene

Regulatory Elements for KLHL9 Gene

Enhancers for KLHL9 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
GH09F022208 0.8 Ensembl ENCODE 20.9 -875.4 -875365 4.5 TBP ESRRA JUN MAX FEZF1 ZNF384 RAD21 RFX5 GATA3 NFYB KLHL9 ENSG00000265194 ENSG00000224549 ENSG00000236921 GC09M022195
GH09F021989 0.7 Ensembl ENCODE 19.4 -655.3 -655271 2.6 SUZ12 ZNF335 ZFHX2 GLIS2 ZNF366 PATZ1 ZNF600 ZNF280C KLF8 ZBTB20 KLHL9 CDKN2A-AS1 UBA52P6 ENSG00000265194 CDKN2B CDKN2B-AS1 PIR47863 GC09M021977
GH09F020619 0.4 ENCODE 11.9 +713.4 713405 4.5 HDGF PKNOX1 WRNIP1 ZNF133 ARID4B SIN3A FEZF1 YBX1 ZNF48 ZNF2 KLHL9 FOCAD MLLT3 RPL7AP48
GH09F022116 1 VISTA Ensembl ENCODE 11.4 -782.7 -782725 3.3 TBP PKNOX1 FEZF1 RAD21 RARA FOS ZNF654 CEBPB USF2 NR2F2 ENSG00000265194 KLHL9 CDKN2A CDKN2A-AS1 CDKN2B-AS1 MTAP ENSG00000277653 GC09M022195
GH09F021653 0.3 FANTOM5 1.4 -318.1 -318107 0.3 MAFF MAFK IFNA1 IFNA6 KLHL9 ENSG00000227443 KHSRPP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLHL9 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001301293 330 2200 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2

Genomic Location for KLHL9 Gene

Chromosome:
9
Start:
21,329,671 bp from pter
End:
21,335,430 bp from pter
Size:
5,760 bases
Orientation:
Minus strand

Genomic View for KLHL9 Gene

Genes around KLHL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL9 Gene

Proteins for KLHL9 Gene

  • Protein details for KLHL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2J3-KLHL9_HUMAN
    Recommended name:
    Kelch-like protein 9
    Protein Accession:
    Q9P2J3
    Secondary Accessions:
    • Q8TCQ2

    Protein attributes for KLHL9 Gene

    Size:
    617 amino acids
    Molecular mass:
    69429 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=BAA92592.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHL9 Gene

Post-translational modifications for KLHL9 Gene

  • Ubiquitination at Lys 171
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KLHL9

No data available for DME Specific Peptides for KLHL9 Gene

Domains & Families for KLHL9 Gene

Gene Families for KLHL9 Gene

Suggested Antigen Peptide Sequences for KLHL9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2J3

UniProtKB/Swiss-Prot:

KLHL9_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 KLHL9: view

Function for KLHL9 Gene

Molecular function for KLHL9 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 KLHL9 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 KLHL9: view
genes like me logo Genes that share phenotypes with KLHL9: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL9 Gene

Localization for KLHL9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL9 Gene COMPARTMENTS Subcellular localization image for KLHL9 gene
Compartment Confidence
cytosol 3
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030496 midbody IDA 19995937
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 17543862
genes like me logo Genes that share ontologies with KLHL9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL9 Gene

Pathways & Interactions for KLHL9 Gene

genes like me logo Genes that share pathways with KLHL9: view

Pathways by source for KLHL9 Gene

UniProtKB/Swiss-Prot Q9P2J3-KLHL9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL9 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:0051301 cell division IEA --
genes like me logo Genes that share ontologies with KLHL9: view

No data available for SIGNOR curated interactions for KLHL9 Gene

Transcripts for KLHL9 Gene

mRNA/cDNA for KLHL9 Gene

(2) REFSEQ mRNAs :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL9 Gene

No ASD Table

Relevant External Links for KLHL9 Gene

GeneLoc Exon Structure for
KLHL9
ECgene alternative splicing isoforms for
KLHL9

Expression for KLHL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL9 Gene



Protein tissue co-expression partners for KLHL9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL9 Gene:

KLHL9

SOURCE GeneReport for Unigene cluster for KLHL9 Gene:

Hs.701778
genes like me logo Genes that share expression patterns with KLHL9: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLHL9 Gene

Orthologs for KLHL9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL9 34 35
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia KLHL9 34 35
  • 94.38 (n)
dog
(Canis familiaris)
Mammalia LOC100688162 34
  • 92.44 (n)
rat
(Rattus norvegicus)
Mammalia Klhl9 34
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Klhl9 34 16 35
  • 91.57 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves KLHL13 34 35
  • 85.75 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl13 34
  • 81.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31679 34
zebrafish
(Danio rerio)
Actinopterygii klhl13 34 35
  • 74.55 (n)
wufc15b07 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6929 34
Species where no ortholog for KLHL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 KLHL9 Gene

ENSEMBL:
Gene Tree for KLHL9 (if available)
TreeFam:
Gene Tree for KLHL9 (if available)

Paralogs for KLHL9 Gene

genes like me logo Genes that share paralogs with KLHL9: view

Variants for KLHL9 Gene

Sequence variations from dbSNP and Humsavar for KLHL9 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs869312950 Uncertain significance 21,333,897(-) TATGA(A/T)GAAAG intron-variant, reference, missense
rs10119659 -- 21,331,507(+) GTGTA(A/T)TACAC intron-variant, utr-variant-3-prime
rs10120531 -- 21,332,479(+) AATAC(G/T)GGCTT intron-variant, utr-variant-3-prime
rs10639615 -- 21,331,504(+) GTGTG(-/GT)TATTA intron-variant, utr-variant-3-prime
rs10642262 -- 21,331,494(+) GGGGT(-/GG/TG)TGTGT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KLHL9 Gene

Variant ID Type Subtype PubMed ID
esv2764150 CNV gain+loss 21179565

Variation tolerance for KLHL9 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 38.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL9 Gene

Human Gene Mutation Database (HGMD)
KLHL9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL9 Gene

Disorders for KLHL9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL9 Gene - From: Orphanet

Disorder Aliases PubMed IDs
klhl9-related childhood-onset distal myopathy
- elite association - COSMIC cancer census association via MalaCards
Search KLHL9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLHL9

Genetic Association Database (GAD)
KLHL9
Human Genome Epidemiology (HuGE) Navigator
KLHL9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL9
genes like me logo Genes that share disorders with KLHL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL9 Gene

Publications for KLHL9 Gene

  1. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PMID: 20574843) Yang X.R. … Goldstein A.M. (Fam. Cancer 2010) 3 46 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. 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
  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. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for KLHL9 Gene

Sources for KLHL9 Gene

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