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    Khdc3 KH domain containing 3, subcortical maternal complex member [ Mus musculus (house mouse) ]

    Gene ID: 66991, updated on 9-Dec-2024

    Summary

    Official Symbol
    Khdc3provided by MGI
    Official Full Name
    KH domain containing 3, subcortical maternal complex memberprovided by MGI
    Primary source
    MGI:MGI:1914241
    See related
    Ensembl:ENSMUSG00000092622 AllianceGenome:MGI:1914241
    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
    FILIA; OEEP48; 2410004A20Rik
    Summary
    Predicted to enable RNA binding activity. Involved in several processes, including positive regulation of dendrite development; positive regulation of double-strand break repair via homologous recombination; and positive regulation of embryonic development. Acts upstream of or within mitotic spindle assembly; mitotic spindle assembly checkpoint signaling; and protein phosphorylation. Located in several cellular components, including cell cortex; centrosome; and mitochondrion. Part of subcortical maternal complex. Is expressed in several structures, including cranial ganglion; early conceptus; gonad; hemolymphoid system gland; and skin. Human ortholog(s) of this gene implicated in gestational trophoblastic neoplasm. Orthologous to human KHDC3L (KH domain containing 3 like, subcortical maternal complex member). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in ovary adult (RPKM 4.8), stomach adult (RPKM 0.3) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See Khdc3 in Genome Data Viewer
    Location:
    9 D; 9 40.08 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (73008660..73013915)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (73101381..73106631)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene Pigb opposite strand 1 Neighboring gene RAB27A, member RAS oncogene family Neighboring gene STARR-seq mESC enhancer starr_24625 Neighboring gene STARR-seq mESC enhancer starr_24627 Neighboring gene STARR-seq mESC enhancer starr_24629 Neighboring gene STARR-seq mESC enhancer starr_24630 Neighboring gene STARR-positive B cell enhancer ABC_E5086 Neighboring gene ribosomal L24 domain containing 1 Neighboring gene ribosomal protein L36 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of organelle localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitotic spindle assembly checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of subcortical maternal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of subcortical maternal complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    KH domain-containing protein 3
    Names
    protein Filia

    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_001311106.1NP_001298035.1  KH domain-containing protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001298035.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region that result in a frame-shift compared to variant 1. It encodes isoform 2, which is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK010377, AK145595
      Consensus CDS
      CCDS81036.1
      UniProtKB/Swiss-Prot
      Q9CWU5
      Related
      ENSMUSP00000133915.2, ENSMUST00000173734.9
      Conserved Domains (1) summary
      cd12795
      Location:12124
      FILIA_N_like; FILIA-N KH-like domain
    2. NM_025890.3NP_080166.1  KH domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_080166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK010377, AK145595, BY756270
      Consensus CDS
      CCDS23336.1
      UniProtKB/Swiss-Prot
      A7YIL2, Q9CRD6, Q9CWU5
      Related
      ENSMUSP00000034737.7, ENSMUST00000034737.13
      Conserved Domains (1) summary
      cd12795
      Location:12124
      FILIA_N_like; FILIA-N KH-like domain

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      73008660..73013915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511374.5XP_006511437.1  KH domain-containing protein 3 isoform X2

      Conserved Domains (2) summary
      PRK10811
      Location:122336
      rne; ribonuclease E; Reviewed
      cd12795
      Location:12124
      FILIA_N_like; FILIA-N KH-like domain
    2. XM_006511372.5XP_006511435.1  KH domain-containing protein 3 isoform X1

      Conserved Domains (2) summary
      PRK10811
      Location:121335
      rne; ribonuclease E; Reviewed
      cd12795
      Location:12118
      FILIA_N_like; FILIA-N KH-like domain