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    KLHL9 kelch like family member 9 [ Homo sapiens (human) ]

    Gene ID: 55958, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KLHL9provided by HGNC
    Official Full Name
    kelch like family member 9provided by HGNC
    Primary source
    HGNC:HGNC:18732
    See related
    Ensembl:ENSG00000198642 MIM:611201; AllianceGenome:HGNC:18732
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
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    Genomic context

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    See KLHL9 in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (21329665..21335404, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (21343833..21349574, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21329664..21335403, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987053 Neighboring gene interferon alpha 5 Neighboring gene interferon alpha 20, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28239 Neighboring gene interferon alpha 6 Neighboring gene interferon alpha 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Cirak S, et al. Brain, 2010 Jul. PMID 20554658, Free PMC Article
    2. Identification of causal genetic drivers of human disease through systems-level analysis of regulatory networks. Chen JC, et al. Cell, 2014 Oct 9. PMID 25303533, Free PMC Article
    3. Targeting Cul3-scaffold E3 ligase complex via KLHL substrate adaptors for cancer therapy. Xiang S, et al. Pharmacol Res, 2021 Jul. PMID 33872809
    4. Deficiency of the autophagy gene ATG16L1 induces insulin resistance through KLHL9/KLHL13/CUL3-mediated IRS1 degradation. Frendo-Cumbo S, et al. J Biol Chem, 2019 Nov 1. PMID 31515271, Free PMC Article
    5. Pan-genome isolation of low abundance transcripts using SAGE tag. Kim YC, et al. FEBS Lett, 2006 Dec 11. PMID 17113583, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
    2. A unique form of early onset autosomal dominant distal myopathy is associated with a kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism.
      Title: Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21815

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cullin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch-like protein 9

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051240.1 RefSeqGene

      Range
      5029..10768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018847.4 → NP_061335.1  kelch-like protein 9

      See identical proteins and their annotated locations for NP_061335.1

      Status: REVIEWED

      Source sequence(s)
      AB037775, AL162420, BC052776, DB237245
      Consensus CDS
      CCDS6503.1
      UniProtKB/Swiss-Prot
      Q8TCQ2, Q9P2J3
      UniProtKB/TrEMBL
      Q58EZ4, Q5JC44
      Related
      ENSP00000351933.4, ENST00000359039.5
      Conserved Domains (3) summary
      PHA03098
      Location:50 → 593
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:337 → 385
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:27 → 154
      BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      21329665..21335404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      21343833..21349574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040713.1: Suppressed sequence

      Description
      NM_001040713.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2J3.2 GenPept UniProtKB/Swiss-Prot:Q9P2J3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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