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

    Gene ID: 122773, updated on 2-Nov-2024

    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-like 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, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49693120..49753150)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43891165..43951525)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 5703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50184541-50185042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5707 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 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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    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-like 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_2024_08

    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

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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