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    KLHL12 kelch-like 12 (Drosophila) [ Homo sapiens ]

    Gene ID: 59349, updated on 11-May-2012
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    Summary

    Official Symbol
    KLHL12provided by HGNC
    Official Full Name
    kelch-like 12 (Drosophila)provided by HGNC
    Primary source
    HGNC:19360
    See related
    Ensembl:ENSG00000117153; HPRD:13925; MIM:614522; Vega:OTTHUMG00000041385
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DKIR; C3IP1; hDKIR; FLJ27152
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    Genomic context

    Location :
    1q32.1
    Sequence :
    Chromosome: 1; NC_000001.10 (202860230..202896371, complement)
    See KLHL12 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene actin pseudogene Neighboring gene RAB interacting factor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene adiponectin receptor 1 Neighboring gene cytochrome b5 reductase 1

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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. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. KLHL12-mediated ubiquitination of the dopamine D4 receptor does not target the receptor for degradation. Rondou P, et al. Cell Signal, 2010 Jun. PMID 20100572.
    4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175.
    5. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. Alexandru G, et al. Cell, 2008 Sep 5. PMID 18775313.

    See all (17) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    2. KLHL12 specifically interacts with the D4 polymorphism, thereby building up a Cul3-E3 ligase complex with substrate specificity toward the D4 receptor
      Title: BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase.
    3. molecular cloning and characterization of a novel gene, encoded a human kelch protein containing 568 amino acid residues, termed hDKIR.
      Title: hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure.
    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
    Q53G59 P10398 ARAF    HPRD  PubMed  
    Q53G59 P54253 ATXN1    HPRD  PubMed  
    Q53G59 P46379 BAG6    HPRD  PubMed  
    Q53G59 P27658 COL8A1    HPRD  PubMed  
    Q53G59 Q16630 CPSF6    HPRD  PubMed  
    Q53G59 Q92997 DVL3    HPRD  PubMed  
    Q53G59 Q53G59 KLHL12    HPRD  PubMed  
    Q53G59 O95198 KLHL2    HPRD  PubMed  
    Q53G59 Q8TBB1 LNX1    HPRD  PubMed  
    Q53G59 Q9H204 MED28    HPRD  PubMed  
    Q53G59 O14777 NDC80    HPRD  PubMed  
    Q53G59 Q9NZ81 PRR13    HPRD  PubMed  
    Q53G59 Selectin ligand interactor cytoplasmic1 SNX20    HPRD  PubMed  
    Q53G59 Q9NP79 VTA1    HPRD  PubMed  
    BioGRID:121890 BioGRID:106864 ARAF    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:106890 ARHGDIB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121890 BioGRID:113647 BAG6    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:107692 COL8A1    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:116238 CPSF6    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121890 BioGRID:108149 DRD4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:121890 BioGRID:108190 DVL3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:121890 BioGRID:121890 KLHL12    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:116431 KLHL2    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:124219 LNX1    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:123219 MED28    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:115675 NDC80    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:119965 PRR13    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:111948 RIT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121890 BioGRID:125867 SNX20    BioGRID  PubMed Two-hybrid 
    BioGRID:121890 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:121890 BioGRID:119239 UBXN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121890 BioGRID:117507 UBXN7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121890 BioGRID:119595 VTA1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    Wnt receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    kelch-like protein 12
    Names
    kelch-like protein 12
    DKIR homolog
    kelch-like protein C3IP1
    CUL3-interacting protein 1
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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_021633.2 → NP_067646.1  kelch-like protein 12

      Status: PROVISIONAL

      Source sequence(s)
      AK027656
      Consensus CDS
      CCDS1429.1
      UniProtKB/Swiss-Prot
      Q53G59
      Related
      ENSP00000356230, OTTHUMP00000038799, ENST00000367261, OTTHUMT00000099151
      Conserved Domains (4) summary
      PHA03098
      Location:46 – 550
      Blast Score: 496
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:135 – 235
      Blast Score: 362
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:23 – 126
      Blast Score: 305
      BTB; BTB/POZ domain
      cl02701
      Location:427 – 473
      Blast Score: 160
      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_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      202860230..202896371, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      174025817..174061990, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC096632.3 (254..36395) None
    genomic CH471067.1 EAW91444.1
      EAW91445.1
      EAW91446.1
      EAW91447.1
      EAW91448.1
    mRNA AF190900.1 AAG17175.1
    mRNA AF306687.1 None
    mRNA AF306689.1 None
    mRNA AK024412.1 BAB14914.1
    mRNA AK027656.1 BAB55271.1
    mRNA AK130662.1 None
    mRNA AK223072.1 BAD96792.1
    mRNA AK301791.1 BAH13554.1
    mRNA BC003183.1 AAH03183.1
    mRNA BC004175.2 AAH04175.1
    other-genetic EU446840.1 ABZ92369.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53G59.2 GenPept UniProtKB/Swiss-Prot:Q53G59
    Q9H7R2 GenPept UniProtKB/TrEMBL:Q9H7R2
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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
    Molecular Biology Databases
    Research Materials
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      Supplemental Content

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