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    Fam53b family with sequence similarity 53, member B [ Mus musculus (house mouse) ]

    Gene ID: 77938, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Fam53bprovided by MGI
    Official Full Name
    family with sequence similarity 53, member Bprovided by MGI
    Primary source
    MGI:MGI:1925188
    See related
    Ensembl:ENSMUSG00000030956 AllianceGenome:MGI:1925188
    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
    mKIAA0140; A930008G19Rik
    Summary
    Predicted to be involved in positive regulation of canonical Wnt signaling pathway and protein import into nucleus. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; retina nuclear layer; skeletal muscle tissue; skin; and submandibular gland. Orthologous to human FAM53B (family with sequence similarity 53 member B). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 38.4), thymus adult (RPKM 19.8) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam53b in Genome Data Viewer
    Location:
    7 F3; 7 76.31 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (132313813..132429518, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (132712084..132813848, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8216 Neighboring gene predicted gene, 46021 Neighboring gene phospholysine phosphohistidine inorganic pyrophosphate phosphatase Neighboring gene STARR-positive B cell enhancer mm9_chr7:139848293-139848593 Neighboring gene STARR-seq mESC enhancer starr_20301 Neighboring gene STARR-seq mESC enhancer starr_20302 Neighboring gene EEF1A lysine methyltransferase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:140044265-140044448 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:140050715-140050898 Neighboring gene RIKEN cDNA 1500002F19 gene Neighboring gene BRISC complex subunit Neighboring gene STARR-seq mESC enhancer starr_20305 Neighboring gene predicted gene, 46003

    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. Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis. Ohkawara B, et al. J Neurochem, 2024 Apr. PMID 37994470
    2. Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafness. Somma G, et al. J Assoc Res Otolaryngol, 2012 Jun. PMID 22383091, Free PMC Article
    3. Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization. Kizil C, et al. Development, 2014 Sep. PMID 25183871
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Simplet/Fam53b is required for Wnt signal transduction by regulating beta-catenin nuclear localization.
      Title: Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40647

    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 Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM53B

    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_001347630.1 → NP_001334559.1  protein FAM53B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC099627
      Consensus CDS
      CCDS85437.1
      UniProtKB/Swiss-Prot
      Q8BGR5
      Related
      ENSMUSP00000101774.2, ENSMUST00000106168.2

    2. NM_001381858.1 → NP_001368787.1  protein FAM53B isoform a

      Status: VALIDATED

      Source sequence(s)
      AC099627
      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      FAM53; Family of FAM53

    3. NM_001381859.1 → NP_001368788.1  protein FAM53B isoform a

      Status: VALIDATED

      Source sequence(s)
      AC099627
      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      FAM53; Family of FAM53

    4. NM_175268.4 → NP_780477.2  protein FAM53B isoform a

      See identical proteins and their annotated locations for NP_780477.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK020830, BC035523
      Consensus CDS
      CCDS21926.1
      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Related
      ENSMUSP00000070763.8, ENSMUST00000065371.14
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      FAM53; Family of FAM53

    5. NM_212473.1 → NP_997638.1  protein FAM53B isoform a

      See identical proteins and their annotated locations for NP_997638.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK051299, BC035523
      Consensus CDS
      CCDS21926.1
      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Related
      ENSMUSP00000095608.3, ENSMUST00000097999.9
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      132313813..132429518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153564.1 → XP_036009457.1  protein FAM53B isoform X1

      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      FAM53; Family of FAM53

    2. XM_036153563.1 → XP_036009456.1  protein FAM53B isoform X1

      UniProtKB/Swiss-Prot
      Q3UGW1, Q8BGR5, Q8BI13
      Conserved Domains (1) summary
      pfam15242
      Location:1 → 303
      FAM53; Family of FAM53
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGR5.1 GenPept UniProtKB/Swiss-Prot:Q8BGR5

    Gene LinkOut

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

    Chemical Information
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