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    Tapt1 transmembrane anterior posterior transformation 1 [ Mus musculus (house mouse) ]

    Gene ID: 231225, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Tapt1provided by MGI
    Official Full Name
    transmembrane anterior posterior transformation 1provided by MGI
    Primary source
    MGI:MGI:2683537
    See related
    Ensembl:ENSMUSG00000046985 AllianceGenome:MGI:2683537
    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
    4932414K18Rik
    Summary
    Acts upstream of or within embryonic skeletal system development. Predicted to be located in centrosome. Predicted to be active in ciliary basal body. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; lung; and retina layer. Orthologous to human TAPT1 (transmembrane anterior posterior transformation 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 24.6), mammary gland adult (RPKM 10.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tapt1 in Genome Data Viewer
    Location:
    5 B3; 5 24.24 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (44332496..44384411, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (44175154..44231163, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35900 Neighboring gene STARR-seq mESC enhancer starr_12986 Neighboring gene STARR-seq mESC enhancer starr_12987 Neighboring gene predicted gene 42427 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:44611861-44612044 Neighboring gene predicted gene, 35959 Neighboring gene STARR-seq mESC enhancer starr_12989 Neighboring gene predicted gene, 40296 Neighboring gene STARR-seq mESC enhancer starr_12990

    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. Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5. Wang B, et al. J Biol Chem, 2022 Dec. PMID 36370851, Free PMC Article
    2. Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. Howell GR, et al. Genetics, 2007 Feb. PMID 17151244, Free PMC Article
    3. High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. Ching YH, et al. BMC Genet, 2010 Nov 30. PMID 21118569, Free PMC Article
    4. Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Wilson L, et al. Genome Res, 2005 Aug. PMID 16024820, Free PMC Article
    5. The antiobesity factor WDTC1 suppresses adipogenesis via the CRL4WDTC1 E3 ligase. Groh BS, et al. EMBO Rep, 2016 May. PMID 27113764, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.
      Title: Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.
    2. TAPT1 is a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development.
      Title: Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Transgenic (1) 
    • Targeted (1) 
    • Chemically induced (ENU) (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 anatomical structure development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane anterior posterior transformation protein 1

    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_173764.3 → NP_776125.2  transmembrane anterior posterior transformation protein 1

      See identical proteins and their annotated locations for NP_776125.2

      Status: VALIDATED

      Source sequence(s)
      BC096038, CN459607
      Consensus CDS
      CCDS19270.1
      UniProtKB/Swiss-Prot
      Q4VBD2, Q8CDI4
      Related
      ENSMUSP00000062110.8, ENSMUST00000055128.12
      Conserved Domains (1) summary
      pfam05346
      Location:152 → 456
      DUF747; Eukaryotic membrane protein family

    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
      44332496..44384411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503940.3 → XP_006504003.1  transmembrane anterior posterior transformation protein 1 isoform X1

      Conserved Domains (1) summary
      pfam05346
      Location:146 → 450
      DUF747; Eukaryotic membrane protein family

    2. XM_030254388.1 → XP_030110248.1  transmembrane anterior posterior transformation protein 1 isoform X2

      Conserved Domains (1) summary
      pfam05346
      Location:1 → 285
      DUF747; Eukaryotic membrane protein family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VBD2.2 GenPept UniProtKB/Swiss-Prot:Q4VBD2

    Gene LinkOut

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

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