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KLHDC1 kelch domain containing 1 [ Homo sapiens (human) ]

Gene ID: 122773, updated on 7-Sep-2023

Summary

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Official Symbol
KLHDC1provided by HGNC
Official Full Name
kelch domain containing 1provided by HGNC
Primary source
HGNC:HGNC:19836
See related
Ensembl:ENSG00000197776 MIM:611281; AllianceGenome:HGNC:19836
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
MST025
Summary
Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Is active in Cul5-RING ubiquitin ligase complex and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 2.8), thyroid (RPKM 2.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See KLHDC1 in Genome Data Viewer
Location:
14q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49693120..49753150)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43891165..43951525)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50159838..50219868)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154169-50154930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154931-50155690 Neighboring gene serine/threonine kinase 16 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50184541-50185042 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:50288374-50289106 Neighboring gene RNA, U6 small nuclear 539, pseudogene

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. Cul5-type Ubiquitin Ligase KLHDC1 Contributes to the Elimination of Truncated SELENOS Produced by Failed UGA/Sec Decoding. Okumura F, et al. iScience, 2020 Mar 27. PMID 32200094, Free PMC Article
  2. CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity. Mirshahpanah P, et al. Exp Dermatol, 2008 Jan. PMID 18095942
  3. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. Chin KT, et al. Mol Cell Biochem, 2007 Feb. PMID 16964437
  4. Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments. Hörer S, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2013 Jun. PMID 23722832, Free PMC Article
  5. Genome-wide searching of rare genetic variants in WTCCC data. Feng T, et al. Hum Genet, 2010 Sep. PMID 20549515, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The crystal structures of the apo form of the mutated Keap1 Kelch domain (1.98 A resolution) and of the complex with an Nrf2-derived peptide obtained by soaking (2.20 A resolution) are reported.
    Title: Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments.
  2. Blocking CCR4 and CCR10 simultaneously, or their ligands, should be beneficial in the treatment of T-cell-mediated skin diseases.
    Title: CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide searching of rare genetic variants in WTCCC data.
  4. Data show that KLHDC1 and KLHDC2 have differential localization and activity in cultured mammalian cells.
    Title: Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2.
Submit: New GeneRIF Correction

Phenotypes

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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

  • MGC126644, MGC126646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
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 Cul5-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
kelch domain-containing protein 1

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_172193.3 → NP_751943.1  kelch domain-containing protein 1

    See identical proteins and their annotated locations for NP_751943.1

    Status: VALIDATED

    Source sequence(s)
    AL591767
    Consensus CDS
    CCDS9692.1
    UniProtKB/Swiss-Prot
    B3KXD9, Q8N7A1, Q8WYI1
    Related
    ENSP00000352282.2, ENST00000359332.7
    Conserved Domains (4) summary
    sd00038
    Location:13 → 65
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:206 → 256
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:247 → 294
    Kelch_4; Galactose oxidase, central domain
    pfam13854
    Location:13 → 54
    Kelch_5; Kelch motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49693120..49753150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536422.3 → XP_011534724.1  kelch domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:197 → 245
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:206 → 256
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:247 → 294
    Kelch_4; Galactose oxidase, central domain
    pfam13854
    Location:13 → 54
    Kelch_5; Kelch motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43891165..43951525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375362.1 → XP_054231337.1  kelch domain-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7A1.2 GenPept UniProtKB/Swiss-Prot:Q8N7A1

Gene LinkOut

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