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    Fam53a family with sequence similarity 53, member A [ Mus musculus (house mouse) ]

    Gene ID: 74504, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Fam53aprovided by MGI
    Official Full Name
    family with sequence similarity 53, member Aprovided by MGI
    Primary source
    MGI:MGI:1919225
    See related
    Ensembl:ENSMUSG00000037339 AllianceGenome:MGI:1919225
    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
    Dntnp; 2410018C17Rik; 5430419M09Rik
    Summary
    Predicted to be involved in protein import into nucleus. Predicted to be active in nucleus. Is expressed in genitourinary system. Orthologous to human FAM53A (family with sequence similarity 53 member A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 16.4), adrenal adult (RPKM 10.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam53a in Genome Data Viewer
    Location:
    5 B2; 5 17.83 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (33757695..33787007, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (33600351..33629675, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4752 Neighboring gene STARR-positive B cell enhancer ABC_E11724 Neighboring gene UV stimulated scaffold protein A Neighboring gene NK1 homeobox 1 Neighboring gene STARR-positive B cell enhancer ABC_E10313 Neighboring gene STARR-seq mESC enhancer starr_12825 Neighboring gene STARR-seq mESC enhancer starr_12826 Neighboring gene STARR-positive B cell enhancer ABC_E6317 Neighboring gene STARR-positive B cell enhancer ABC_E6318 Neighboring gene predicted gene 9903 Neighboring gene predicted gene 10459 Neighboring gene stem-loop binding protein

    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. Isolation of DNTNP, which encodes a potential nuclear protein that is expressed in the developing, dorsal neural tube. Jun L, et al. Dev Dyn, 2002 May. PMID 11984880
    2. Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial Cells. Kole C, et al. PLoS One, 2016. PMID 26985665, Free PMC Article
    3. Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment. Georgas K, et al. Dev Biol, 2009 Aug 15. PMID 19501082
    4. Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development. Combes AN, et al. Dev Dyn, 2009 May. PMID 19334288, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (22) 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 (3) 

    General gene information

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    Homology

    Clone Names

    • KIAA4017

    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 protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein import into nucleus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM53A
    Names
    dorsal neural-tube nuclear 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_001359461.1 → NP_001346390.1  protein FAM53A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC132233
      Consensus CDS
      CCDS19203.1
      UniProtKB/Swiss-Prot
      E9PV82, Q8R2K2, Q8R5K1, Q91VG1
      UniProtKB/TrEMBL
      Q8CEP3
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 299
      FAM53; Family of FAM53

    2. NM_001359462.1 → NP_001346391.1  protein FAM53A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC132233, FO715067
      Consensus CDS
      CCDS19203.1
      UniProtKB/Swiss-Prot
      E9PV82, Q8R2K2, Q8R5K1, Q91VG1
      UniProtKB/TrEMBL
      Q8CEP3
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 299
      FAM53; Family of FAM53

    3. NM_001359463.1 → NP_001346392.1  protein FAM53A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC132233
      UniProtKB/TrEMBL
      Q3U2V9, Q8CEP3
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 209
      FAM53; Family of FAM53

    4. NM_178390.3 → NP_848477.2  protein FAM53A isoform a

      See identical proteins and their annotated locations for NP_848477.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AK163326, BB848576, BC028656
      Consensus CDS
      CCDS19203.1
      UniProtKB/Swiss-Prot
      E9PV82, Q8R2K2, Q8R5K1, Q91VG1
      UniProtKB/TrEMBL
      Q8CEP3
      Related
      ENSMUSP00000070770.9, ENSMUST00000065119.15
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 299
      FAM53; Family of FAM53

    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
      33757695..33787007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240776.4 → XP_011239078.1  protein FAM53A isoform X1

      See identical proteins and their annotated locations for XP_011239078.1

      UniProtKB/Swiss-Prot
      E9PV82, Q8R2K2, Q8R5K1, Q91VG1
      UniProtKB/TrEMBL
      Q8CEP3
      Related
      ENSMUSP00000045539.4, ENSMUST00000045329.10
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 299
      FAM53; Family of FAM53

    2. XM_036165566.1 → XP_036021459.1  protein FAM53A isoform X2

      UniProtKB/TrEMBL
      Q3U2V9, Q8CEP3
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 209
      FAM53; Family of FAM53
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9PV82.1 GenPept UniProtKB/Swiss-Prot:E9PV82

    Gene LinkOut

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

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