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    KLHL9 kelch-like 9 (Drosophila) [ Homo sapiens ]

    Gene ID: 55958, updated on 11-May-2012
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    Summary

    Official Symbol
    KLHL9provided by HGNC
    Official Full Name
    kelch-like 9 (Drosophila)provided by HGNC
    Primary source
    HGNC:18732
    Locus tag
    RP11-380P16.6
    See related
    Ensembl:ENSG00000198642; HPRD:13929; MIM:611201; Vega:OTTHUMG00000019669
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ21815; RP11-380P16.6
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    Genomic context

    Location :
    9p22
    Sequence :
    Chromosome: 9; NC_000009.11 (21331018..21335429, complement)
    See KLHL9 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene interferon, alpha 5 Neighboring gene interferon, alpha 20, pseudogene Neighboring gene interferon, alpha 6 Neighboring gene interferon, alpha 13

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. Yang XR, et al. Fam Cancer, 2010 Dec. PMID 20574843.
    5. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Cirak S, et al. Brain, 2010 Jul. PMID 20554658.

    See all (13) 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
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121009 BioGRID:114646 AURKB    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:121009 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121009 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121009 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121009 BioGRID:124688 KLHL13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121009 BioGRID:115232 KLHL21    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121009 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121009 BioGRID:118895 USP25    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
      Aurora B signaling, organism-specific biosystem
      Aurora B signaling
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    mitosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    kelch-like protein 9
    Names
    kelch-like protein 9
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    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_018847.2 → NP_061335.1  kelch-like protein 9

      Status: VALIDATED

      Source sequence(s)
      AL162420
      Consensus CDS
      CCDS6503.1
      UniProtKB/TrEMBL
      Q58EZ4
      UniProtKB/Swiss-Prot
      Q9P2J3
      Related
      ENSP00000351933, OTTHUMP00000021141, ENST00000359039, OTTHUMT00000051898
      Conserved Domains (4) summary
      PHA03098
      Location:50 – 593
      Blast Score: 612
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:154 – 253
      Blast Score: 279
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:40 – 146
      Blast Score: 255
      BTB; BTB/POZ domain
      cl02701
      Location:400 – 446
      Blast Score: 137
      Kelch_3; Galactose oxidase, central domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      21331018..21335429, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      21294476..21298889, 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.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL162420.13 CAH73191.1
    genomic CH471071.2 EAW58614.1
    mRNA AB037775.1 BAA92592.1
    mRNA AK022805.1 None
    mRNA AK023630.1 BAB14623.1
    mRNA AK025468.1 None
    mRNA AK091715.1 BAG52403.1
    mRNA AL713669.1 CAD28475.1
    mRNA AY172949.1 AAO39718.1
    mRNA BC039133.2 AAH39133.1
    mRNA BC052776.1 None
    mRNA BC064958.1 None
    mRNA BC105008.1 AAI05009.1
    mRNA BC113513.1 AAI13514.1
    mRNA BX538121.1 CAD98027.1
    mRNA DR978657.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JC44 GenPept UniProtKB/TrEMBL:Q5JC44
    Q7Z350 GenPept UniProtKB/TrEMBL:Q7Z350
    Q9H8J3 GenPept UniProtKB/TrEMBL:Q9H8J3
    Q9P2J3.2 GenPept UniProtKB/Swiss-Prot:Q9P2J3
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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