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    Ttc7 tetratricopeptide repeat domain 7 [ Mus musculus (house mouse) ]

    Gene ID: 225049, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Ttc7provided by MGI
    Official Full Name
    tetratricopeptide repeat domain 7provided by MGI
    Primary source
    MGI:MGI:1920999
    See related
    Ensembl:ENSMUSG00000036918 AllianceGenome:MGI:1920999
    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
    fsn; hea; Ttc7a; 1110035E02Rik; 1700007L07Rik
    Summary
    Acts upstream of or within hemopoiesis and intracellular iron ion homeostasis. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. Used to study psoriasis. Human ortholog(s) of this gene implicated in multiple intestinal atresia. Orthologous to human TTC7A (tetratricopeptide repeat domain 7A). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in duodenum adult (RPKM 23.6), spleen adult (RPKM 20.7) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ttc7 in Genome Data Viewer
    Location:
    17 E4; 17 57.12 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (87590328..87689197)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (87282808..87381770)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3220 Neighboring gene RIKEN cDNA 4833418N02 gene Neighboring gene multiple coagulation factor deficiency 2 Neighboring gene STARR-positive B cell enhancer ABC_E9969 Neighboring gene predicted gene, 52284 Neighboring gene STARR-positive B cell enhancer ABC_E11653 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87743694-87743847 Neighboring gene RIKEN cDNA 0610012D04 gene Neighboring gene sperm tail PG rich repeat containing 4 Neighboring gene STARR-seq mESC enhancer starr_43504 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87846074-87846261 Neighboring gene calmodulin 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 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. Development and progression of psoriasiform dermatitis and systemic lesions in the flaky skin (fsn) mouse mutant. Sundberg JP, et al. Pathobiology, 1997. PMID 9459497
    2. Antinuclear autoantibodies in flaky skin (fsn) mutant mice. Withington S, et al. Autoimmunity, 2002 May. PMID 12389642
    3. Dysregulated expression of CD69 and IL-2 receptor alpha and beta chains on CD8+ T lymphocytes in flaky skin mice. Abernethy NJ, et al. Immunol Cell Biol, 2000 Dec. PMID 11114969
    4. Critical role of neutrophils for the generation of psoriasiform skin lesions in flaky skin mice. Schön M, et al. J Invest Dermatol, 2000 May. PMID 10771480
    5. Hyperactivation and proliferation of lymphocytes from the spleens of flaky skin (fsn) mutant mice. Welner R, et al. Autoimmunity, 2004 May. PMID 15497457

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
      Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
    2. Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.
      Title: Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.
    3. Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes.
      Title: Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes.
    4. novel mutation results in multiple intestinal atresia and combined immunodeficiency
      Title: Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
    5. speculate that TTC7 plays an important role in iron transport
      Title: Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
    6. Ttc7 is expressed in multiple types of tissue including skin, kidney, spleen, and thymus, but is most abundant in germinal center B cells and hematopoietic stem cells, suggesting an important role in the development of immune system cells
      Title: The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
    7. Data confirmed that the Ttc7 mutations, is responsible for abnormal phenotypes observed in various tissues of mice with the flaky skin mutation.
      Title: The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    flaky skin
    GeneReviews: Not available
    hereditary erythroblastic anemia
    GeneReviews: Not available
    Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.[MGI]
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Spontaneous (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 7A
    Names
    TPR repeat protein 7A

    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_001404087.1 → NP_001391016.1  tetratricopeptide repeat protein 7A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084383

    2. NM_001404088.1 → NP_001391017.1  tetratricopeptide repeat protein 7A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084383

    3. NM_028639.4 → NP_082915.1  tetratricopeptide repeat protein 7A isoform 2

      See identical proteins and their annotated locations for NP_082915.1

      Status: VALIDATED

      Source sequence(s)
      AC084383
      Consensus CDS
      CCDS29016.1
      UniProtKB/Swiss-Prot
      Q80XT5, Q8BGB2
      UniProtKB/TrEMBL
      D3Z0R8
      Related
      ENSMUSP00000040771.6, ENSMUST00000041110.12
      Conserved Domains (3) summary
      sd00006
      Location:747 → 773
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:712 → 776
      TPR_11; TPR repeat
      pfam13432
      Location:749 → 808
      TPR_16; Tetratricopeptide repeat

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      87590328..87689197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524202.5 → XP_006524265.1  tetratricopeptide repeat protein 7A isoform X3

      Conserved Domains (3) summary
      COG3118
      Location:507 → 597
      YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]
      sd00008
      Location:490 → 525
      TPR_YbbN; TPR repeat [structural motif]
      sd00006
      Location:529 → 568
      TPR; TPR repeat [structural motif]

    2. XM_017317451.1 → XP_017172940.1  tetratricopeptide repeat protein 7A isoform X4

      UniProtKB/TrEMBL
      Q3TNI8
      Conserved Domains (2) summary
      TIGR00990
      Location:350 → 588
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:492 → 518
      TPR; TPR repeat [structural motif]

    3. XM_011246415.3 → XP_011244717.1  tetratricopeptide repeat protein 7A isoform X5

      UniProtKB/TrEMBL
      Q3TNI8
      Conserved Domains (2) summary
      TIGR00990
      Location:207 → 445
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:349 → 375
      TPR; TPR repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGB2.1 GenPept UniProtKB/Swiss-Prot:Q8BGB2

    Gene LinkOut

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

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