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    KLHL13 kelch like family member 13 [ Homo sapiens (human) ]

    Gene ID: 90293, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHL13provided by HGNC
    Official Full Name
    kelch like family member 13provided by HGNC
    Primary source
    HGNC:HGNC:22931
    See related
    Ensembl:ENSG00000003096 MIM:300655; AllianceGenome:HGNC:22931
    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
    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]
    Expression
    Broad expression in endometrium (RPKM 9.9), kidney (RPKM 3.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL13 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (117897813..118117340, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (116275375..116494936, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117031776..117251303, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SET pseudogene 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:116381582-116382781 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:116414963-116415464 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:116415465-116415964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:116438886-116439386 Neighboring gene TCERG1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117166141-117166641 Neighboring gene TUBB4B pseudogene 3 Neighboring gene ribosomal protein L12 pseudogene 43

    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. A Cul3-based E3 ligase regulates mitosis and is required to maintain the spindle assembly checkpoint in human cells. Sumara I, et al. Cell Cycle, 2007 Dec 15. PMID 18075312
    2. Targeting Cul3-scaffold E3 ligase complex via KLHL substrate adaptors for cancer therapy. Xiang S, et al. Pharmacol Res, 2021 Jul. PMID 33872809
    3. 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
    4. KEAP1 Mutations Drive Tumorigenesis by Suppressing SOX9 Ubiquitination and Degradation. Shao N, et al. Adv Sci (Weinh), 2020 Nov. PMID 33173725, Free PMC Article
    5. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. Sumara I, et al. Dev Cell, 2007 Jun. PMID 17543862

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

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

    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

    • FLJ10262, MGC74791

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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

    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_016759.2 RefSeqGene

      Range
      19240..238237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168299.2 → NP_001161771.1  kelch-like protein 13 isoform b

      See identical proteins and their annotated locations for NP_001161771.1

      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
      B7ZB44
      Related
      ENSP00000419803.2, ENST00000469946.5
      Conserved Domains (3) summary
      PHA03098
      Location:95 → 638
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:382 → 430
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:72 → 199
      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

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

      See identical proteins and their annotated locations for NP_001161772.1

      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)
      AC006963, AC006968
      Consensus CDS
      CCDS94657.1
      UniProtKB/TrEMBL
      B7ZB44
      Related
      ENSP00000360945.2, ENST00000371878.5
      Conserved Domains (3) summary
      PHA03098
      Location:86 → 629
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373 → 421
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:63 → 190
      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

    3. NM_001168301.2 → NP_001161773.1  kelch-like protein 13 isoform d

      See identical proteins and their annotated locations for NP_001161773.1

      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
      B7ZB44
      Related
      ENSP00000444450.1, ENST00000541812.5
      Conserved Domains (3) summary
      PHA03098
      Location:76 → 619
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:363 → 411
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:53 → 180
      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

    4. NM_001168302.2 → NP_001161774.1  kelch-like protein 13 isoform d

      See identical proteins and their annotated locations for NP_001161774.1

      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
      Related
      ENSP00000441029.1, ENST00000540167.6
      Conserved Domains (3) summary
      PHA03098
      Location:76 → 619
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:363 → 411
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:53 → 180
      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

    5. NM_001168303.4 → NP_001161775.2  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)
      AC003012, AC006963
      UniProtKB/TrEMBL
      A0A0C4DG80, B7ZB44
      Related
      ENSP00000360949.2, ENST00000371882.5
      Conserved Domains (3) summary
      PHA03098
      Location:41 → 584
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:328 → 376
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:18 → 145
      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

    6. NM_001394863.1 → NP_001381792.1  kelch-like protein 13 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC006963, AC006968
      Consensus CDS
      CCDS14571.1
      UniProtKB/Swiss-Prot
      B3KV78, B3KWM7, B7Z3S9, B7Z5P2, B7Z802, D3DWH6, Q6P2E3, Q96QI7, Q9P2N7, Q9UDN9
      UniProtKB/TrEMBL
      B7ZB44
      Conserved Domains (3) summary
      PHA03098
      Location:92 → 635
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:379 → 427
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:69 → 196
      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

    7. NM_001394864.1 → NP_001381793.1  kelch-like protein 13 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC006963, AC006968
      UniProtKB/TrEMBL
      B7ZB44
      Conserved Domains (3) summary
      PHA03098
      Location:86 → 626
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373 → 421
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:63 → 190
      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

    8. NM_001394866.1 → NP_001381795.1  kelch-like protein 13 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC003012, AC006963
      UniProtKB/TrEMBL
      B7ZB44
      Conserved Domains (3) summary
      PHA03098
      Location:50 → 590
      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

    9. NM_033495.4 → NP_277030.2  kelch-like protein 13 isoform a

      See identical proteins and their annotated locations for NP_277030.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AC006963, AC006968
      Consensus CDS
      CCDS14571.1
      UniProtKB/Swiss-Prot
      B3KV78, B3KWM7, B7Z3S9, B7Z5P2, B7Z802, D3DWH6, Q6P2E3, Q96QI7, Q9P2N7, Q9UDN9
      UniProtKB/TrEMBL
      B7ZB44
      Related
      ENSP00000262820.3, ENST00000262820.7
      Conserved Domains (3) summary
      PHA03098
      Location:92 → 635
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:379 → 427
      Kelch; KELCH repeat [structural motif]
      cd18239
      Location:69 → 196
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      117897813..118117340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      116275375..116494936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001394865.3: Suppressed sequence

      Description
      NM_001394865.3: This RefSeq was removed because it was a duplicate of NM_001168303.4.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2N7.3 GenPept UniProtKB/Swiss-Prot:Q9P2N7

    Gene LinkOut

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

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