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    Cfdp1 craniofacial development protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 23837, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cfdp1provided by MGI
    Official Full Name
    craniofacial development protein 1provided by MGI
    Primary source
    MGI:MGI:1344403
    See related
    Ensembl:ENSMUSG00000031954 AllianceGenome:MGI:1344403
    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
    Bcnt; Cfdp; cp27; Bucentaur
    Summary
    Acts upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in basement membrane. Is expressed in several structures, including 1st branchial arch; central nervous system; embryo mesenchyme; future brain; and sensory organ. Orthologous to human CFDP1 (craniofacial development protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 77.7), placenta adult (RPKM 58.1) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 E1; 8 57.98 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (112493314..112580969, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (111766682..111854337, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1686 Neighboring gene breast cancer anti-estrogen resistance 1 Neighboring gene predicted gene, 51589 Neighboring gene STARR-seq mESC enhancer starr_22714 Neighboring gene STARR-seq mESC enhancer starr_22715 Neighboring gene predicted gene, 39252 Neighboring gene STARR-positive B cell enhancer ABC_E6685 Neighboring gene STARR-positive B cell enhancer ABC_E6686 Neighboring gene transmembrane protein 170 Neighboring gene STARR-positive B cell enhancer ABC_E5043 Neighboring gene STARR-seq mESC enhancer starr_22724 Neighboring gene STARR-seq mESC enhancer starr_22725 Neighboring gene carbohydrate sulfotransferase 5

    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. Overcoming off-targets: assessing Western blot signals for Bcnt/Cfdp1, a tentative component of the chromatin remodeling complex. Iwashita S, et al. Biosci Rep, 2020 Jun 26. PMID 32432658, Free PMC Article
    2. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Diekwisch TG, et al. Gene, 2002 Apr 3. PMID 11992732
    3. [A novel type protein, Bcnt, that includes the region derived from a long interspersed nucleotide element]. Iwashita S. Seikagaku, 2001 Dec. PMID 11831036
    4. Gene organization of bovine BCNT that contains a portion corresponding to an endonuclease domain derived from an RTE-1 (Bov-B LINE), non-LTR retrotransposable element: duplication of an intramolecular repeat unit downstream of the truncated RTE-1. Iwashita S, et al. Gene, 2001 May 2. PMID 11368901
    5. Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development. Makeyev AV, et al. Cleft Palate Craniofac J, 2011 Jan. PMID 20500075

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overcoming off-targets: assessing Western blot signals for Bcnt/Cfdp1, a tentative component of the chromatin remodeling complex.
      Title: Overcoming off-targets: assessing Western blot signals for Bcnt/Cfdp1, a tentative component of the chromatin remodeling complex.
    2. Cfdp1 contains consensus TFII-I binding sites in the proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo in Williams-Beuren syndrome.
      Title: Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
    3. These results provide a basis for our understanding of the specific regulation of the cp27 gene in the NF-Y-mediated gene transcription network.
      Title: Characterization of the mouse CP27 promoter and NF-Y mediated gene regulation.
    4. CP27 affects viability, proliferation, attachment and gene expression in embryonic fibroblasts.
      Title: CP27 affects viability, proliferation, attachment and gene expression in embryonic fibroblasts.
    5. includes the region derived from a long interspersed nucleotide
      Title: [A novel type protein, Bcnt, that includes the region derived from a long interspersed nucleotide element].
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basement membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    craniofacial development protein 1
    Names
    27 kDa craniofacial protein

    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_001368337.1 → NP_001355266.1  craniofacial development protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC127315

    2. NM_001368338.1 → NP_001355267.1  craniofacial development protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC127315

    3. NM_011801.2 → NP_035931.1  craniofacial development protein 1 isoform 1

      See identical proteins and their annotated locations for NP_035931.1

      Status: VALIDATED

      Source sequence(s)
      AC127315
      Consensus CDS
      CCDS22680.1
      UniProtKB/Swiss-Prot
      O70565, O88271, Q9JMA5
      Related
      ENSMUSP00000034432.6, ENSMUST00000034432.7
      Conserved Domains (1) summary
      pfam07572
      Location:218 → 291
      BCNT; Bucentaur or craniofacial development

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      112493314..112580969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001368335.1: Suppressed sequence

      Description
      NM_001368335.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

    2. NM_001368336.1: Suppressed sequence

      Description
      NM_001368336.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88271.1 GenPept UniProtKB/Swiss-Prot:O88271

    Gene LinkOut

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

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