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    Cnfn cornifelin [ Mus musculus (house mouse) ]

    Gene ID: 72383, updated on 4-Nov-2024

    Summary

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    Official Symbol
    Cnfnprovided by MGI
    Official Full Name
    cornifelinprovided by MGI
    Primary source
    MGI:MGI:1919633
    See related
    Ensembl:ENSMUSG00000063651 AllianceGenome:MGI:1919633
    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
    2210418J09Rik
    Summary
    Predicted to be involved in keratinization. Predicted to be located in cytoplasm. Predicted to be active in cornified envelope. Is expressed in external naris. Orthologous to human CNFN (cornifelin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward stomach adult (RPKM 1304.1) See more
    Orthologs
    human all
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    Genomic context

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    See Cnfn in Genome Data Viewer
    Location:
    7 A3; 7 13.78 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (25067041..25069149, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (25367616..25369724, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 145 Neighboring gene multiple EGF-like-domains 8 Neighboring gene RIKEN cDNA 4732471J01 gene Neighboring gene STARR-positive B cell enhancer ABC_E2227 Neighboring gene STARR-positive B cell enhancer ABC_E11345 Neighboring gene lipase, hormone sensitive Neighboring gene C-X-C motif chemokine ligand 17

    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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    Related articles in PubMed

    1. Identification and characterization of a novel component of the cornified envelope, cornifelin. Michibata H, et al. Biochem Biophys Res Commun, 2004 Jun 11. PMID 15147942
    2. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    3. 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
    4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    5. 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

    See all (15) 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 (2) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in keratinization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cornified envelope ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cornifelin

    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_001081375.1 → NP_001074844.1  cornifelin isoform 2

      See identical proteins and their annotated locations for NP_001074844.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC156992
      Consensus CDS
      CCDS39838.1
      UniProtKB/Swiss-Prot
      Q6PCW6
      Related
      ENSMUSP00000075625.4, ENSMUST00000076276.5
      Conserved Domains (1) summary
      TIGR01571
      Location:21 → 109
      A_thal_Cys_rich; uncharacterized Cys-rich domain

    2. NM_028219.1 → NP_082495.1  cornifelin isoform 1

      See identical proteins and their annotated locations for NP_082495.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC156992
      Consensus CDS
      CCDS52149.1
      UniProtKB/TrEMBL
      G3UWC9
      Related
      ENSMUSP00000130957.2, ENSMUST00000167591.8
      Conserved Domains (1) summary
      TIGR01571
      Location:34 → 122
      A_thal_Cys_rich; uncharacterized Cys-rich 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_000073.7 Reference GRCm39 C57BL/6J

      Range
      25067041..25069149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PCW6.1 GenPept UniProtKB/Swiss-Prot:Q6PCW6

    Gene LinkOut

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

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