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

Gene ID: 74504, updated on 2-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 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

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