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

    Gene ID: 122773, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 2.8), thyroid (RPKM 2.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    kelch domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_172193.3NP_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:1365
      Kelch; KELCH repeat [structural motif]
      pfam13415
      Location:206256
      Kelch_3; Galactose oxidase, central domain
      pfam13418
      Location:247294
      Kelch_4; Galactose oxidase, central domain
      pfam13854
      Location:1354
      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_011536422.3XP_011534724.1  kelch domain-containing protein 1 isoform X1

      Conserved Domains (4) summary
      sd00038
      Location:197245
      Kelch; KELCH repeat [structural motif]
      pfam13415
      Location:206256
      Kelch_3; Galactose oxidase, central domain
      pfam13418
      Location:247294
      Kelch_4; Galactose oxidase, central domain
      pfam13854
      Location:1354
      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_054375362.1XP_054231337.1  kelch domain-containing protein 1 isoform X1