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    KLHL13 kelch-like 13 (Drosophila) [ Homo sapiens ]

    Gene ID: 90293, updated on 11-May-2012
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    Summary

    Official Symbol
    KLHL13provided by HGNC
    Official Full Name
    kelch-like 13 (Drosophila)provided by HGNC
    Primary source
    HGNC:22931
    See related
    Ensembl:ENSG00000003096; HPRD:06461; MIM:300655; Vega:OTTHUMG00000022252
    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
    Also known as
    BKLHD2; FLJ10262; MGC74791
    Summary
    This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
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    Genomic context

    Location :
    Xq23-q24
    Sequence :
    Chromosome: X; NC_000023.10 (117031776..117251303, complement)
    See KLHL13 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene SET pseudogene 8 Neighboring gene transcription elongation regulator 1 pseudogene Neighboring gene ribosomal protein L12 pseudogene 43 Neighboring gene WD repeat domain 44 Neighboring gene microRNA 1277

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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. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. 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.
    4. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. Maerki S, et al. J Cell Biol, 2009 Dec 14. PMID 19995937.
    5. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732.

    See all (16) citations in PubMed

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

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

    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124688 BioGRID:114646 AURKB    BioGRID  PubMed Biochemical Activity 
    BioGRID:124688 BioGRID:114729 COPS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:119324 COPS4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124688 BioGRID:115232 KLHL21    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124688 BioGRID:124308 KLHL22    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:121009 KLHL9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:110260 MAD2L1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:116962 NUDCD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:117507 UBXN7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:113866 USP11    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:118895 USP25    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:114636 ZMYM4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124688 BioGRID:114638 ZMYM6    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 
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    General protein information

    Preferred Names
    kelch-like protein 13
    Names
    kelch-like protein 13
    BTB and kelch domain containing 2
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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.

    Genomic

    1. NG_016759.1 RefSeqGene

      Range
      5001..224528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168299.1 → NP_001161771.1  kelch-like protein 13 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) with a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AK296324, BC008729, DC354391
      Consensus CDS
      CCDS55480.1
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Related
      ENSP00000443191, ENST00000539496
      Conserved Domains (4) summary
      PHA03098
      Location:95 – 638
      Blast Score: 593
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:199 – 298
      Blast Score: 264
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:85 – 191
      Blast Score: 258
      BTB; BTB/POZ domain
      cl02701
      Location:446 – 491
      Blast Score: 139
      Kelch_3; Galactose oxidase, central domain

    2. NM_001168300.1 → NP_001161772.1  kelch-like protein 13 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (c) with a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK299257, BC008729, DA214831, DA413195
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Conserved Domains (4) summary
      PHA03098
      Location:86 – 629
      Blast Score: 587
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:190 – 289
      Blast Score: 262
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:76 – 182
      Blast Score: 255
      BTB; BTB/POZ domain
      cl02701
      Location:437 – 482
      Blast Score: 139
      Kelch_3; Galactose oxidase, central domain

    3. NM_001168301.1 → NP_001161773.1  kelch-like protein 13 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AK302713, BC008729, BP380009
      Consensus CDS
      CCDS55481.1
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Related
      ENSP00000444450, ENST00000541812
      Conserved Domains (4) summary
      PHA03098
      Location:76 – 619
      Blast Score: 593
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:180 – 279
      Blast Score: 264
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:66 – 172
      Blast Score: 256
      BTB; BTB/POZ domain
      cl02701
      Location:427 – 472
      Blast Score: 138
      Kelch_3; Galactose oxidase, central domain

    4. NM_001168302.1 → NP_001161774.1  kelch-like protein 13 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AK316509, BC008729, DB074659, DC343916
      Consensus CDS
      CCDS55481.1
      UniProtKB/TrEMBL
      B7ZB44
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Related
      ENSP00000441029, ENST00000540167
      Conserved Domains (4) summary
      PHA03098
      Location:76 – 619
      Blast Score: 593
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:180 – 279
      Blast Score: 264
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:66 – 172
      Blast Score: 256
      BTB; BTB/POZ domain
      cl02701
      Location:427 – 472
      Blast Score: 138
      Kelch_3; Galactose oxidase, central domain

    5. NM_001168303.1 → NP_001161775.1  kelch-like protein 13 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (e) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AL591986, BC008729, DB074659, DC343916
      Consensus CDS
      CCDS55479.1
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Related
      ENSP00000440707, ENST00000545703
      Conserved Domains (4) summary
      PHA03098
      Location:50 – 593
      Blast Score: 589
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:154 – 253
      Blast Score: 266
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:40 – 146
      Blast Score: 257
      BTB; BTB/POZ domain
      cl02701
      Location:401 – 446
      Blast Score: 138
      Kelch_3; Galactose oxidase, central domain

    6. NM_033495.3 → NP_277030.2  kelch-like protein 13 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AK125356, BC008729, BC064576
      Consensus CDS
      CCDS14571.1
      UniProtKB/TrEMBL
      Q96HC9
      UniProtKB/Swiss-Prot
      Q9P2N7
      Related
      ENSP00000262820, ENST00000262820
      Conserved Domains (4) summary
      PHA03098
      Location:92 – 635
      Blast Score: 592
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:196 – 295
      Blast Score: 266
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:82 – 188
      Blast Score: 259
      BTB; BTB/POZ domain
      cl02701
      Location:443 – 488
      Blast Score: 139
      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_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      117031776..117251303, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      106526310..106745823, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC003012.1 (100..50838) None
    genomic AC006963.4 AAF03529.1
    genomic AC006968.2 (200..26276) None
    genomic AL590114.14 (100..23808) None
    genomic CH471161.2 EAW89898.1
      EAW89899.1
      EAW89900.1
    mRNA AB037730.1 BAA92547.1
    mRNA AK001124.1 BAA91514.1
    mRNA AK122724.1 BAG53690.1
    mRNA AK125356.1 BAG54189.1
    mRNA AK296324.1 BAH12315.1
    mRNA AK297523.1 BAH12605.1
    mRNA AK299257.1 BAH12978.1
    mRNA AK302713.1 BAH13788.1
    mRNA AK316509.1 BAH14880.1
    mRNA AL591986.1 CAC41335.1
    mRNA BC008729.2 AAH08729.2
    mRNA BC064576.1 AAH64576.2
    mRNA BP380009.1 None
    mRNA DA214831.1 None
    mRNA DA413195.1 None
    mRNA DB074659.1 None
    mRNA DC343916.1 None
    mRNA DC354391.1 None
    other-genetic EU446550.1 ABZ92079.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HC9 GenPept UniProtKB/TrEMBL:Q96HC9
    Q9NW71 GenPept UniProtKB/TrEMBL:Q9NW71
    Q9P2N7.3 GenPept UniProtKB/Swiss-Prot:Q9P2N7
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    Additional Links

    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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