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    Tuft1 tuftelin 1 [ Mus musculus (house mouse) ]

    Gene ID: 22156, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tuft1provided by MGI
    Official Full Name
    tuftelin 1provided by MGI
    Primary source
    MGI:MGI:109572
    See related
    Ensembl:ENSMUSG00000005968 AllianceGenome:MGI:109572
    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
    Summary
    Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 11.2), small intestine adult (RPKM 10.2) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 F2.1; 3 40.74 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (94520060..94566179, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (94612753..94658872, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene translation machinery-associated protein 7 pseudogene Neighboring gene ribosomal protein L31, pseudogene 11 Neighboring gene cingulin pseudogene Neighboring gene STARR-seq mESC enhancer starr_08354 Neighboring gene selenium binding protein 2

    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. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Jackson A, et al. Br J Dermatol, 2023 Jan 23. PMID 36689522
    2. The phosphorylation of serine(55) in enamelin is essential for murine amelogenesis. Dong C, et al. Matrix Biol, 2022 Aug. PMID 35820561
    3. TUFT1 interacts with RABGAP1 and regulates mTORC1 signaling. Kawasaki N, et al. Cell Discov, 2018. PMID 29423269, Free PMC Article
    4. The induction of tuftelin expression in PC12 cell line during hypoxia and NGF-induced differentiation. Leiser Y, et al. J Cell Physiol, 2011 Jan. PMID 20658530
    5. The human tuftelin gene: cloning and characterization. Mao Z, et al. Gene, 2001 Nov 28. PMID 11733143

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
      Title: Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
    2. Tuftelin1 drives experimental pulmonary fibrosis progression by facilitating stress fiber assembly.
      Title: Tuftelin1 drives experimental pulmonary fibrosis progression by facilitating stress fiber assembly.
    3. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
      Title: Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
    4. The phosphorylation of serine(55) in enamelin is essential for murine amelogenesis.
      Title: The phosphorylation of serine(55) in enamelin is essential for murine amelogenesis.
    5. These data raise the hypothesis that enamelin defects have pleiotropic effects on organs other than the teeth.
      Title: Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines.
    6. The pathways affecting the expression of tuftelin in PC12 cells and mice are described.
      Title: The induction of tuftelin expression in PC12 cell line during hypoxia and NGF-induced differentiation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tuftelin

    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_001293728.1 → NP_001280657.1  tuftelin isoform 2

      See identical proteins and their annotated locations for NP_001280657.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC127252
      Consensus CDS
      CCDS79975.1
      UniProtKB/TrEMBL
      A0A0G2JDW8, Q3TAP8
      Related
      ENSMUSP00000143278.2, ENSMUST00000196733.5
      Conserved Domains (1) summary
      pfam06364
      Location:125 → 214
      DUF1068; Protein of unknown function (DUF1068)

    2. NM_011656.3 → NP_035786.1  tuftelin isoform 1

      See identical proteins and their annotated locations for NP_035786.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC127252, AK132488
      Consensus CDS
      CCDS17595.1
      UniProtKB/Swiss-Prot
      O08970
      UniProtKB/TrEMBL
      A0A0G2JDW8, Q3V1F5
      Related
      ENSMUSP00000006123.4, ENSMUST00000006123.11
      Conserved Domains (1) summary
      pfam06364
      Location:150 → 239
      DUF1068; Protein of unknown function (DUF1068)

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      94520060..94566179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501307.3 → XP_006501370.1  tuftelin isoform X1

      See identical proteins and their annotated locations for XP_006501370.1

      UniProtKB/TrEMBL
      A0A0G2JDW8
      Conserved Domains (1) summary
      TIGR02169
      Location:41 → 284
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08970.2 GenPept UniProtKB/Swiss-Prot:O08970

    Gene LinkOut

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

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