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    Tmtc1 transmembrane and tetratricopeptide repeat containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 387314, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmtc1provided by MGI
    Official Full Name
    transmembrane and tetratricopeptide repeat containing 1provided by MGI
    Primary source
    MGI:MGI:3039590
    See related
    Ensembl:ENSMUSG00000030306 AllianceGenome:MGI:3039590
    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
    Arg99
    Summary
    Predicted to enable dolichyl-phosphate-mannose-protein mannosyltransferase activity. Predicted to be involved in protein O-linked mannosylation. Located in mitochondrion. Is expressed in central nervous system; dorsal root ganglion; and forelimb bud. Orthologous to human TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart adult (RPKM 8.8), frontal lobe adult (RPKM 6.6) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmtc1 in Genome Data Viewer
    Location:
    6 G3; 6 78.49 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (148133928..148346222, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (148232430..148444770, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene fatty acyl CoA reductase 2, opposite strand 1 Neighboring gene fatty acyl CoA reductase 2 Neighboring gene STARR-seq mESC enhancer starr_17828 Neighboring gene STARR-seq mESC enhancer starr_17829 Neighboring gene STARR-seq mESC enhancer starr_17830 Neighboring gene RIKEN cDNA 4732416N19 gene Neighboring gene STARR-positive B cell enhancer ABC_E540 Neighboring gene STARR-positive B cell enhancer ABC_E3694 Neighboring gene ERGIC and golgi 2 Neighboring gene predicted gene, 52483 Neighboring gene STARR-seq mESC enhancer starr_17834 Neighboring gene predicted gene, 44020 Neighboring gene STARR-seq mESC enhancer starr_17837 Neighboring gene ribosomal protein S4-like Neighboring gene STARR-seq mESC enhancer starr_17838 Neighboring gene predicted gene, 36613 Neighboring gene predicted gene 6313

    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. Notch transcriptional target tmtc1 maintains vascular homeostasis. Paik NY, et al. Cell Mol Life Sci, 2024 Aug 27. PMID 39190102, Free PMC Article
    2. Parallel Pbx-Dependent Pathways Govern the Coalescence and Fate of Motor Columns. Hanley O, et al. Neuron, 2016 Sep 7. PMID 27568519, Free PMC Article
    3. Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Lewandowski JP, et al. Dev Biol, 2015 Oct 1. PMID 26238476, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Notch transcriptional target tmtc1 maintains vascular homeostasis.
      Title: Notch transcriptional target tmtc1 maintains vascular homeostasis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 dolichyl-phosphate-mannose-protein mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase TMTC1
    Names
    ARG99 homolog
    transmembrane O-mannosyltransferase targeting cadherins 1
    transmembrane and TPR repeat-containing protein 1
    NP_001334447.1
    NP_001398719.1
    NP_945318.2
    XP_006507135.1
    XP_011239920.1
    XP_011239922.1
    XP_017177159.1
    XP_036022163.1
    XP_036022164.1
    XP_036022165.1
    XP_036022166.1

    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_001347518.2 → NP_001334447.1  protein O-mannosyl-transferase TMTC1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC126683, AC142274
      Consensus CDS
      CCDS85189.1
      UniProtKB/Swiss-Prot
      Q3UV71
      Related
      ENSMUSP00000098335.4, ENSMUST00000100772.10

    2. NM_001411790.1 → NP_001398719.1  protein O-mannosyl-transferase TMTC1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC126683, AC142274

    3. NM_198967.6 → NP_945318.2  protein O-mannosyl-transferase TMTC1 isoform 1

      See identical proteins and their annotated locations for NP_945318.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC126683, AC142274
      Consensus CDS
      CCDS51960.1
      UniProtKB/Swiss-Prot
      E9QM13, Q3UV71, Q8BQV5
      Related
      ENSMUSP00000056353.9, ENSMUST00000060095.15
      Conserved Domains (3) summary
      TIGR02917
      Location:529 → 942
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:642 → 670
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:351 → 425
      DUF1736; Domain of unknown function (DUF1736)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      148133928..148346222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036166270.1 → XP_036022163.1  protein O-mannosyl-transferase TMTC1 isoform X1

      Conserved Domains (3) summary
      TIGR02917
      Location:529 → 909
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:642 → 670
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:352 → 425
      DUF1736; Domain of unknown function (DUF1736)

    2. XM_036166273.1 → XP_036022166.1  protein O-mannosyl-transferase TMTC1 isoform X4

      Conserved Domains (3) summary
      TIGR02917
      Location:412 → 816
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:516 → 544
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:264 → 337
      DUF1736; Domain of unknown function (DUF1736)

    3. XM_036166272.1 → XP_036022165.1  protein O-mannosyl-transferase TMTC1 isoform X3

      Conserved Domains (3) summary
      TIGR02917
      Location:441 → 854
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:554 → 582
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:264 → 337
      DUF1736; Domain of unknown function (DUF1736)

    4. XM_006507072.5 → XP_006507135.1  protein O-mannosyl-transferase TMTC1 isoform X8

      Conserved Domains (3) summary
      TIGR02917
      Location:180 → 593
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:293 → 321
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:2 → 76
      DUF1736; Domain of unknown function (DUF1736)

    5. XM_036166271.1 → XP_036022164.1  protein O-mannosyl-transferase TMTC1 isoform X2

      Conserved Domains (4) summary
      COG0457
      Location:552 → 788
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      PRK10049
      Location:732 → 864
      pgaA; outer membrane protein PgaA; Provisional
      sd00006
      Location:642 → 670
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:352 → 425
      DUF1736; Domain of unknown function (DUF1736)

    6. XM_017321670.3 → XP_017177159.1  protein O-mannosyl-transferase TMTC1 isoform X7

      Conserved Domains (3) summary
      TIGR02917
      Location:505 → 649
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:543 → 571
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:351 → 425
      DUF1736; Domain of unknown function (DUF1736)

    7. XM_011241620.4 → XP_011239922.1  protein O-mannosyl-transferase TMTC1 isoform X6

      Conserved Domains (3) summary
      TIGR02917
      Location:505 → 649
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:543 → 571
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:351 → 425
      DUF1736; Domain of unknown function (DUF1736)

    8. XM_011241618.4 → XP_011239920.1  protein O-mannosyl-transferase TMTC1 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:505 → 649
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:543 → 571
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:351 → 425
      DUF1736; Domain of unknown function (DUF1736)

    RNA

    1. XR_004942979.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UV71.2 GenPept UniProtKB/Swiss-Prot:Q3UV71

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