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Klhdc1 kelch domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 271005, updated on 9-Dec-2024

Summary

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Official Symbol
Klhdc1provided by MGI
Official Full Name
kelch domain containing 1provided by MGI
Primary source
MGI:MGI:2672853
See related
Ensembl:ENSMUSG00000051890 AllianceGenome:MGI:2672853
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Predicted to be part of Cul5-RING ubiquitin ligase complex. Predicted to be active in cytosol. Orthologous to human KLHDC1 (kelch domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in testis adult (RPKM 2.2), frontal lobe adult (RPKM 2.0) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Klhdc1 in Genome Data Viewer
Location:
12 C2; 12 28.74 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (69274529..69331420)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (69227729..69284646)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9330151L19 gene Neighboring gene mannoside acetylglucosaminyltransferase 2 Neighboring gene dynein, axonemal assembly factor 2 Neighboring gene STARR-seq mESC enhancer starr_32361 Neighboring gene polymerase (DNA directed), epsilon 2 (p59 subunit) Neighboring gene STARR-positive B cell enhancer ABC_E10753 Neighboring gene STARR-seq mESC enhancer starr_32363 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor Neighboring gene STARR-seq mESC enhancer starr_32364 Neighboring gene STARR-positive B cell enhancer ABC_E10754

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
  2. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
  3. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
  4. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073
  5. High-efficiency full-length cDNA cloning. Carninci P, et al. Methods Enzymol, 1999. PMID 10349636

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

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Homology

Clone Names

  • MGC141300, MGC141301

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ubiquitin-like ligase-substrate adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin-like ligase-substrate adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of Cul5-RING ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
  
part_of Cul5-RING ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
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_001413289.1 → NP_001400218.1  kelch domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099934
    UniProtKB/TrEMBL
    Q0VDQ8

  2. NM_001413290.1 → NP_001400219.1  kelch domain-containing protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099934
    UniProtKB/TrEMBL
    Q0VDQ8

  3. NM_001413291.1 → NP_001400220.1  kelch domain-containing protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099934
    UniProtKB/TrEMBL
    Q0VDQ8

  4. NM_178253.6 → NP_839984.1  kelch domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_839984.1

    Status: VALIDATED

    Source sequence(s)
    AC099934
    Consensus CDS
    CCDS25949.1
    UniProtKB/Swiss-Prot
    Q0VDQ7, Q80YG3
    UniProtKB/TrEMBL
    Q0VDQ8
    Related
    ENSMUSP00000068046.7, ENSMUST00000063445.13
    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 → 295
    Kelch_4; Galactose oxidase, central domain
    pfam13854
    Location:13 → 54
    Kelch_5; Kelch motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    69274529..69331420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244119.4 → XP_011242421.1  kelch domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011242421.1

    UniProtKB/TrEMBL
    Q0VDQ8
    Conserved Domains (3) summary
    PLN02153
    Location:138 → 278
    PLN02153; epithiospecifier protein
    PLN02193
    Location:1 → 237
    PLN02193; nitrile-specifier protein
    sd00038
    Location:152 → 200
    Kelch; KELCH repeat [structural motif]

  2. XM_011244120.2 → XP_011242422.1  kelch domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011242422.1

    UniProtKB/TrEMBL
    Q0VDQ8
    Conserved Domains (3) summary
    PLN02153
    Location:138 → 278
    PLN02153; epithiospecifier protein
    PLN02193
    Location:1 → 237
    PLN02193; nitrile-specifier protein
    sd00038
    Location:152 → 200
    Kelch; KELCH repeat [structural motif]

  3. XM_030246743.1 → XP_030102603.1  kelch domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    PLN02153
    Location:62 → 202
    PLN02153; epithiospecifier protein
    sd00038
    Location:76 → 124
    Kelch; KELCH repeat [structural motif]
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80YG3.1 GenPept UniProtKB/Swiss-Prot:Q80YG3

Gene LinkOut

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