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    Fam47e family with sequence similarity 47, member E [ Mus musculus (house mouse) ]

    Gene ID: 384198, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Fam47eprovided by MGI
    Official Full Name
    family with sequence similarity 47, member Eprovided by MGI
    Primary source
    MGI:MGI:2686227
    See related
    Ensembl:ENSMUSG00000057068 AllianceGenome:MGI:2686227
    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
    Gm1381; C730043O17
    Summary
    Predicted to enable enzyme activator activity. Predicted to be involved in transcription initiation-coupled chromatin remodeling. Predicted to be located in chromatin; cytoplasm; and nucleus. Orthologous to several human genes including FAM47E (family with sequence similarity 47 member E). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver E18 (RPKM 2.3), lung adult (RPKM 1.8) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam47e in Genome Data Viewer
    Location:
    5 E2; 5 47.09 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (92702823..92739144)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (92554960..92591285)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:92864208-92864361 Neighboring gene nucleoporin 54 Neighboring gene predicted gene, 42114 Neighboring gene scavenger receptor class B, member 2 Neighboring gene microRNA 6415 Neighboring gene STARR-seq mESC enhancer starr_13641 Neighboring gene STARR-seq mESC enhancer starr_13643 Neighboring gene STARR-positive B cell enhancer ABC_E10330 Neighboring gene STARR-seq mESC enhancer starr_13648 Neighboring gene coiled-coil domain containing 158 Neighboring gene VISTA enhancer mm187 Neighboring gene starch binding domain 1

    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. The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation. Carmona-Mora P, et al. Hum Genet, 2015 Oct. PMID 26275350
    2. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    3. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. 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

    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) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in transcription initiation-coupled chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM47E

    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_001033478.2 → NP_001028650.2  protein FAM47E isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC123850, AK050399, AK144479, BC147168, DV648863
      Consensus CDS
      CCDS19432.2
      UniProtKB/TrEMBL
      E9Q0Z5
      Related
      ENSMUSP00000118033.3, ENSMUST00000131166.9

    2. NM_001170571.1 → NP_001164042.1  protein FAM47E isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA244788, AC123850, AK050399, AK144479
      Consensus CDS
      CCDS51548.1
      UniProtKB/TrEMBL
      E9PYM1
      Related
      ENSMUSP00000080987.8, ENSMUST00000082382.8

    3. NM_001374714.1 → NP_001361643.1  protein FAM47E isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC123850
      Consensus CDS
      CCDS89938.1
      UniProtKB/TrEMBL
      D3YWC7
      Related
      ENSMUSP00000115229.3, ENSMUST00000146417.9
      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    4. NM_001379201.1 → NP_001366130.1  protein FAM47E isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC123850
      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    5. NM_001379202.1 → NP_001366131.1  protein FAM47E isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC123850

    6. NM_001379203.1 → NP_001366132.1  protein FAM47E isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC123850

    7. NM_001379204.1 → NP_001366133.1  protein FAM47E isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC123850, BE650192

    8. NM_001379205.1 → NP_001366134.1  protein FAM47E isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC123850

    9. NM_001379206.1 → NP_001366135.1  protein FAM47E isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC123850

    10. NM_001379207.1 → NP_001366136.1  protein FAM47E isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC123850

    11. NM_001379208.1 → NP_001366137.1  protein FAM47E isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC123850
      UniProtKB/TrEMBL
      B2RVF4

    12. NM_001379209.1 → NP_001366138.1  protein FAM47E isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC123850

    13. NM_001400576.1 → NP_001387505.1  protein FAM47E isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC123850

    14. NM_001400577.1 → NP_001387506.1  protein FAM47E isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC123850
      UniProtKB/TrEMBL
      H3BKF1
      Related
      ENSMUSP00000135365.2, ENSMUST00000176621.8

    15. NM_001400578.1 → NP_001387507.1  protein FAM47E isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC123850

    RNA

    1. NR_166538.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC123850

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      92702823..92739144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249501.4 → XP_011247803.1  protein FAM47E isoform X6

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    2. XM_011249500.4 → XP_011247802.1  protein FAM47E isoform X5

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 188
      FAM47; FAM47 family

    3. XM_036165256.1 → XP_036021149.1  protein FAM47E isoform X3

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    4. XM_011249497.4 → XP_011247799.1  protein FAM47E isoform X1

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    5. XM_011249499.4 → XP_011247801.1  protein FAM47E isoform X4

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 185
      FAM47; FAM47 family

    6. XM_011249498.4 → XP_011247800.1  protein FAM47E isoform X2

      Conserved Domains (1) summary
      pfam14642
      Location:26 → 188
      FAM47; FAM47 family

    7. XM_011249502.2 → XP_011247804.1  protein FAM47E isoform X7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001170572.1: Suppressed sequence

      Description
      NM_001170572.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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