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

Gene ID: 55958, updated on 2-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.

Chemical Information
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