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    KLHDC10 kelch domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 23008, updated on 11-Apr-2024

    Summary

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    Official Symbol
    KLHDC10provided by HGNC
    Official Full Name
    kelch domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:22194
    See related
    Ensembl:ENSG00000128607 MIM:615152; AllianceGenome:HGNC:22194
    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
    slim; PNAS-138
    Summary
    Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nucleoplasm. Is active in Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130070534..130135705)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131383894..131449088)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129710374..129775545)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr7:129606459-129606647 Neighboring gene UBE2H divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129608210-129608852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129608853-129609494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129630785-129631284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129646338-129646838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129646839-129647339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26639 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:129649077-129650276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26640 Neighboring gene RNA, 5S ribosomal pseudogene 245 Neighboring gene zinc finger C3HC-type containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129690548-129691340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129780805-129781468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129781469-129782132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18643 Neighboring gene long intergenic non-protein coding RNA 3008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18644 Neighboring gene transmembrane protein 209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26649 Neighboring gene uncharacterized LOC124901745

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Convergence of mammalian RQC and C-end rule proteolytic pathways via alanine tailing. Thrun A, et al. Mol Cell, 2021 May 20. PMID 33909987, Free PMC Article
    2. The Eukaryotic Proteome Is Shaped by E3 Ubiquitin Ligases Targeting C-Terminal Degrons. Koren I, et al. Cell, 2018 Jun 14. PMID 29779948, Free PMC Article
    3. The Kelch repeat protein KLHDC10 regulates oxidative stress-induced ASK1 activation by suppressing PP5. Sekine Y, et al. Mol Cell, 2012 Dec 14. PMID 23102700
    4. USP25 regulates Wnt signaling by controlling the stability of tankyrases. Xu D, et al. Genes Dev, 2017 May 15. PMID 28619731, Free PMC Article
    5. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanism and evolutionary origins of alanine-tail C-degron recognition by E3 ligases Pirh2 and CRL2-KLHDC10.
      Title: Mechanism and evolutionary origins of alanine-tail C-degron recognition by E3 ligases Pirh2 and CRL2-KLHDC10.
    2. Suggest that Slim/KLHDC10 is an activator of ASK1, contributing to oxidative stress-induced cell death through the suppression of PP5.
      Title: The Kelch repeat protein KLHDC10 regulates oxidative stress-induced ASK1 activation by suppressing PP5.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0265

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of stress-activated MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    kelch domain-containing protein 10
    Names
    PNAS-119
    scruin like at the midline homolog

    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_014997.4 → NP_055812.1  kelch domain-containing protein 10

      See identical proteins and their annotated locations for NP_055812.1

      Status: VALIDATED

      Source sequence(s)
      AC087071, BC036464, BC044884, D87454
      Consensus CDS
      CCDS5815.1
      UniProtKB/Swiss-Prot
      Q6PID8, Q86Y99, Q92554
      Related
      ENSP00000334140.4, ENST00000335420.10
      Conserved Domains (4) summary
      PLN02153
      Location:139 → 302
      PLN02153; epithiospecifier protein
      PRK14131
      Location:88 → 171
      PRK14131; N-acetylneuraminate epimerase
      sd00038
      Location:208 → 256
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:315 → 361
      Kelch_1; Kelch motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130070534..130135705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420061.1 → XP_047276017.1  kelch domain-containing protein 10 isoform X2

    2. XM_047420062.1 → XP_047276018.1  kelch domain-containing protein 10 isoform X2

    3. XM_047420063.1 → XP_047276019.1  kelch domain-containing protein 10 isoform X2

    4. XM_005250233.6 → XP_005250290.1  kelch domain-containing protein 10 isoform X1

      See identical proteins and their annotated locations for XP_005250290.1

      Conserved Domains (4) summary
      PLN02153
      Location:110 → 273
      PLN02153; epithiospecifier protein
      PRK14131
      Location:59 → 142
      PRK14131; N-acetylneuraminate epimerase
      sd00038
      Location:179 → 227
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:286 → 332
      Kelch_1; Kelch motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      131383894..131449088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357640.1 → XP_054213615.1  kelch domain-containing protein 10 isoform X2

    2. XM_054357641.1 → XP_054213616.1  kelch domain-containing protein 10 isoform X2

    3. XM_054357642.1 → XP_054213617.1  kelch domain-containing protein 10 isoform X2

    4. XM_054357639.1 → XP_054213614.1  kelch domain-containing protein 10 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PID8.1 GenPept UniProtKB/Swiss-Prot:Q6PID8
    Q9BZS9.1 GenPept UniProtKB/Swiss-Prot:Q9BZS9

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