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

Gene ID: 77938, updated on 5-Mar-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 act upstream of or within Wnt signaling pathway. 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, Apr 2022]
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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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
  • 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. 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
  2. Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization. Kizil C, et al. Development, 2014 Sep. PMID 25183871
  3. 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
  4. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
  5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

See all (19) 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)
  • Targeted (2) 
  • Endonuclease-mediated (1) 

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
acts_upstream_of_or_within 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 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
  
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
  

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.

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