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

Gene ID: 23008, updated on 23-Nov-2023

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
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Genomic context

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See KLHDC10 in Genome Data Viewer
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 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

    UniProtKB/TrEMBL
    Q96G43

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

    UniProtKB/TrEMBL
    Q96G43

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

    UniProtKB/TrEMBL
    Q96G43

  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

    UniProtKB/TrEMBL
    Q96G43

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

    UniProtKB/TrEMBL
    Q96G43

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

    UniProtKB/TrEMBL
    Q96G43

  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

Gene LinkOut

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

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