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    Klhl12 kelch-like 12 [ Mus musculus (house mouse) ]

    Gene ID: 240756, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Klhl12provided by MGI
    Official Full Name
    kelch-like 12provided by MGI
    Primary source
    MGI:MGI:2385619
    See related
    Ensembl:ENSMUSG00000026455 AllianceGenome:MGI:2385619
    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
    Also known as
    C3ip1
    Summary
    Predicted to enable identical protein binding activity and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in several processes, including COPII vesicle coating; mesenchymal cell differentiation; and protein monoubiquitination. Predicted to be located in centriolar satellite and intracellular membrane-bounded organelle. Predicted to be part of COPII vesicle coat and Cul3-RING ubiquitin ligase complex. Predicted to be active in COPII-coated ER to Golgi transport vesicle. Is expressed in several structures, including central nervous system and genitourinary system. Orthologous to human KLHL12 (kelch like family member 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 12.6), liver E14 (RPKM 11.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhl12 in Genome Data Viewer
    Location:
    1 E4; 1 58.23 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (134383269..134418611)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (134455495..134490880)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02328 Neighboring gene cytochrome b5 reductase 1 Neighboring gene adiponectin receptor 1 Neighboring gene STARR-seq mESC enhancer starr_02333 Neighboring gene STARR-positive B cell enhancer ABC_E3304 Neighboring gene RAB interacting factor Neighboring gene predicted gene, 25612 Neighboring gene tubulin alpha 5, pseudogene Neighboring gene predicted gene 15454

    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 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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    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) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7076

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in COPII vesicle coating IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in COPII vesicle coating ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in COPII vesicle coating ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural crest cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neural crest cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural crest formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neural crest formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein monoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of COPII vesicle coat ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of COPII vesicle coat ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in COPII-coated ER to Golgi transport vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in COPII-coated ER to Golgi transport vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 12
    Names
    CUL3-interacting protein 1
    kelch-like protein C3IP1

    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_001311136.2 → NP_001298065.1  kelch-like protein 12 isoform 1

      See identical proteins and their annotated locations for NP_001298065.1

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592
      Consensus CDS
      CCDS78687.1
      UniProtKB/Swiss-Prot
      Q8BZM0, Q8K225
      Related
      ENSMUSP00000027725.5, ENSMUST00000027725.11
      Conserved Domains (4) summary
      PHA03098
      Location:46 → 550
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:416 → 459
      Kelch; KELCH repeat [structural motif]
      cd18242
      Location:12 → 135
      BTB_POZ_KLHL12_C3IP1_DKIR; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 12 (KLHL12)
      cd18452
      Location:130 → 265
      BACK_KLHL12; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 12 (KLHL12)

    2. NM_001421130.1 → NP_001408059.1  kelch-like protein 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592
      UniProtKB/Swiss-Prot
      Q8BZM0, Q8K225
      Related
      ENSMUSP00000112227.2, ENSMUST00000116528.2

    3. NM_001421132.1 → NP_001408061.1  kelch-like protein 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592

    4. NM_001421133.1 → NP_001408062.1  kelch-like protein 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592

    5. NM_001421134.1 → NP_001408063.1  kelch-like protein 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592
      Related
      ENSMUSP00000107851.2, ENSMUST00000112232.8

    6. NM_001421135.1 → NP_001408064.1  kelch-like protein 12 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592

    7. NM_001421136.1 → NP_001408065.1  kelch-like protein 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592

    8. NM_001421137.1 → NP_001408066.1  kelch-like protein 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592

    9. NM_153128.4 → NP_694768.1  kelch-like protein 12 isoform 2

      See identical proteins and their annotated locations for NP_694768.1

      Status: VALIDATED

      Source sequence(s)
      AC122771, AC131592
      Consensus CDS
      CCDS35715.1
      UniProtKB/Swiss-Prot
      Q8BZM0
      Conserved Domains (5) summary
      smart00612
      Location:494 → 538
      Kelch; Kelch domain
      PHA03098
      Location:46 → 523
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:319 → 365
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:23 → 126
      BTB; BTB/POZ domain
      pfam07707
      Location:135 → 236
      BACK; BTB And C-terminal Kelch

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      134383269..134418611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZM0.1 GenPept UniProtKB/Swiss-Prot:Q8BZM0

    Gene LinkOut

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