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

    Gene ID: 225049, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in duodenum adult (RPKM 23.6), spleen adult (RPKM 20.7) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

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

      Status: VALIDATED

      Source sequence(s)
      AC084383
      UniProtKB/TrEMBL
      D3Z0R8
    2. NM_001404088.1NP_001391017.1  tetratricopeptide repeat protein 7A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084383
      UniProtKB/TrEMBL
      Q8C9T8
    3. NM_028639.4NP_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:747773
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:712776
      TPR_11; TPR repeat
      pfam13432
      Location:749808
      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_006524202.5XP_006524265.1  tetratricopeptide repeat protein 7A isoform X3

      Conserved Domains (3) summary
      COG3118
      Location:507597
      YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]
      sd00008
      Location:490525
      TPR_YbbN; TPR repeat [structural motif]
      sd00006
      Location:529568
      TPR; TPR repeat [structural motif]
    2. XM_017317451.1XP_017172940.1  tetratricopeptide repeat protein 7A isoform X4

      UniProtKB/TrEMBL
      Q3TNI8
      Conserved Domains (2) summary
      TIGR00990
      Location:350588
      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:492518
      TPR; TPR repeat [structural motif]
    3. XM_011246415.3XP_011244717.1  tetratricopeptide repeat protein 7A isoform X5

      UniProtKB/TrEMBL
      Q3TNI8
      Conserved Domains (2) summary
      TIGR00990
      Location:207445
      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:349375
      TPR; TPR repeat [structural motif]