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    KLHL29 kelch like family member 29 [ Homo sapiens (human) ]

    Gene ID: 114818, updated on 27-Dec-2024

    Summary

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    Official Symbol
    KLHL29provided by HGNC
    Official Full Name
    kelch like family member 29provided by HGNC
    Primary source
    HGNC:HGNC:29404
    See related
    Ensembl:ENSG00000119771 AllianceGenome:HGNC:29404
    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
    KBTBD9
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 5.0), prostate (RPKM 2.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL29 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (23385179..23708606)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (23420561..23743675)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (23608050..23931476)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985792 Neighboring gene uncharacterized LOC107985858 Neighboring gene uncharacterized LOC102723389 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23453551-23454248 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:23520344-23520844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23570305-23570998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15411 Neighboring gene Sharpr-MPRA regulatory region 13479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11220 Neighboring gene long intergenic non-protein coding RNA 2923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23620049-23620548 Neighboring gene NANOG hESC enhancer GRCh37_chr2:23627224-23627805 Neighboring gene Sharpr-MPRA regulatory region 1613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23642945-23643779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23648459-23648959 Neighboring gene uncharacterized LOC124907741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23675903-23676404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23676405-23676904 Neighboring gene peptidylprolyl isomerase A pseudogene 61 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23709146-23709646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23710559-23711060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23711061-23711560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:23720142-23720825 Neighboring gene uncharacterized LOC105374325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23727033-23727581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23728885-23729385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23739883-23740383 Neighboring gene NANOG hESC enhancer GRCh37_chr2:23742998-23743499 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:23746074-23747273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23758787-23759662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23768135-23768636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23776477-23777416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23777417-23778356 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:23786903-23787264 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:23805267-23805410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23824976-23825531 Neighboring gene uncharacterized LOC102723401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23891284-23891901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23891902-23892518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23894797-23895296 Neighboring gene MPRA-validated peak3617 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23911725-23912270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23925627-23926459 Neighboring gene ATPase family AAA domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15416 Neighboring gene MPRA-validated peak3620 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15417 Neighboring gene phosphoglycerate mutase 1 pseudogene 6 Neighboring gene ribosomal protein S13 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. KLHL29-mediated DDX3X degradation promotes chemosensitivity by abrogating cell cycle checkpoint in triple-negative breast cancer. Yao L, et al. Oncogene, 2023 Nov. PMID 37845393, Free PMC Article
    2. The novel fusion transcript NR5A2-KLHL29FT is generated by an insertion at the KLHL29 locus. Sun Z, et al. Cancer, 2017 May 1. PMID 28081303, Free PMC Article
    3. Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions. Mychaleckyj JC, et al. Mol Biol Evol, 2017 Mar 1. PMID 28100790, Free PMC Article
    4. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    5. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. Murea M, et al. Am J Nephrol, 2011. PMID 21546767, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL29-mediated DDX3X degradation promotes chemosensitivity by abrogating cell cycle checkpoint in triple-negative breast cancer.
      Title: KLHL29-mediated DDX3X degradation promotes chemosensitivity by abrogating cell cycle checkpoint in triple-negative breast cancer.
    2. The fusion transcript NR5A2-KLHL29FT was identified in normal and cancerous colonic epithelia. It is due to an uncharacterized polymorphic germline insertion of the NR5A2 sequence from chromosome 1 into the KLHL29 locus at chromosome 2, rather than a chromosomal rearrangement. NR5A2-KLH29FT expression levels were significantly lower in colon cancers than in matched normal colonic epithelia.
      Title: The novel fusion transcript NR5A2-KLHL29FT is generated by an insertion at the KLHL29 locus.
    3. Brazilian Amerindian ancestry compared to Asian, European, and African Genomes.SNPs within or proximal to CIITA (rs6498115), SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA (rs45601437) in the Asian comparison.
      Title: Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1921

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 29
    Names
    kelch repeat and BTB (POZ) domain containing 9
    kelch repeat and BTB domain-containing protein 9
    kelch-like 29

    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.

    mRNA and Protein(s)

    1. NM_052920.2 → NP_443152.1  kelch-like protein 29

      See identical proteins and their annotated locations for NP_443152.1

      Status: VALIDATED

      Source sequence(s)
      AB067508, AC011239, AC012506, BC013982, BE142100, DR002067
      Consensus CDS
      CCDS54335.1
      UniProtKB/Swiss-Prot
      Q8N388, Q96BF0, Q96CT2, Q96PW7
      Related
      ENSP00000420659.1, ENST00000486442.6
      Conserved Domains (6) summary
      smart00612
      Location:822 → 870
      Kelch; Kelch domain
      PHA03098
      Location:333 → 860
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:673 → 716
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:319 → 427
      BTB; BTB/POZ domain
      pfam01344
      Location:672 → 717
      Kelch_1; Kelch motif
      pfam07707
      Location:436 → 537
      BACK; BTB And C-terminal Kelch

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      23385179..23708606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711929.4 → XP_006711992.1  kelch-like protein 29 isoform X1

      See identical proteins and their annotated locations for XP_006711992.1

      UniProtKB/Swiss-Prot
      Q8N388, Q96BF0, Q96CT2, Q96PW7
      Conserved Domains (6) summary
      smart00612
      Location:822 → 870
      Kelch; Kelch domain
      PHA03098
      Location:333 → 860
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:673 → 716
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:319 → 427
      BTB; BTB/POZ domain
      pfam01344
      Location:672 → 717
      Kelch_1; Kelch motif
      pfam07707
      Location:436 → 537
      BACK; BTB And C-terminal Kelch

    2. XM_011532501.3 → XP_011530803.1  kelch-like protein 29 isoform X2

      Conserved Domains (6) summary
      smart00612
      Location:516 → 564
      Kelch; Kelch domain
      PHA03098
      Location:27 → 554
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:367 → 410
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:13 → 121
      BTB; BTB/POZ domain
      pfam01344
      Location:366 → 411
      Kelch_1; Kelch motif
      pfam07707
      Location:130 → 231
      BACK; BTB And C-terminal Kelch

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      23420561..23743675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340358.1 → XP_054196333.1  kelch-like protein 29 isoform X1

      UniProtKB/Swiss-Prot
      Q8N388, Q96BF0, Q96CT2, Q96PW7

    2. XM_054340357.1 → XP_054196332.1  kelch-like protein 29 isoform X1

      UniProtKB/Swiss-Prot
      Q8N388, Q96BF0, Q96CT2, Q96PW7

    3. XM_054340359.1 → XP_054196334.1  kelch-like protein 29 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025067.1: Suppressed sequence

      Description
      NM_025067.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CT2.3 GenPept UniProtKB/Swiss-Prot:Q96CT2

    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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