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    Tmtc4 transmembrane and tetratricopeptide repeat containing 4 [ Mus musculus (house mouse) ]

    Gene ID: 70551, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Tmtc4provided by MGI
    Official Full Name
    transmembrane and tetratricopeptide repeat containing 4provided by MGI
    Primary source
    MGI:MGI:1921050
    See related
    Ensembl:ENSMUSG00000041594 AllianceGenome:MGI:1921050
    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
    4930403J22Rik; 5730419O14Rik
    Summary
    Predicted to enable ATPase binding activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within several processes, including endoplasmic reticulum unfolded protein response; outer hair cell apoptotic process; and positive regulation of endoplasmic reticulum calcium ion concentration. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including adrenal gland; alimentary system; eye; genitourinary system; and nervous system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 6.0), CNS E11.5 (RPKM 5.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmtc4 in Genome Data Viewer
    Location:
    14 E5; 14 66.04 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (123156383..123220697, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (122918971..122983285, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene propionyl-Coenzyme A carboxylase, alpha polypeptide Neighboring gene STARR-positive B cell enhancer mm9_chr14:123229731-123230031 Neighboring gene predicted gene, 53848 Neighboring gene RIKEN cDNA 4930594M22 gene Neighboring gene STARR-seq mESC enhancer starr_37784 Neighboring gene gamma-glutamylamine cyclotransferase Neighboring gene predicted gene, 46488 Neighboring gene STARR-positive B cell enhancer ABC_E8582 Neighboring gene STARR-seq mESC enhancer starr_37785 Neighboring gene predicted gene, 57613 Neighboring gene STARR-seq mESC enhancer starr_37786 Neighboring gene STARR-seq mESC enhancer starr_37787 Neighboring gene expressed sequence AA536875

    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. TMTC4 is a hair cell-specific human deafness gene. Li J, et al. JCI Insight, 2023 Dec 22. PMID 37943620, Free PMC Article
    2. Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss. Li J, et al. J Clin Invest, 2018 Nov 1. PMID 30188326, Free PMC Article
    3. Identification of differentially expressed genes in mouse spermatogenesis. Pang AL, et al. J Androl, 2003 Nov-Dec. PMID 14581517
    4. Novel features of boundary cap cells revealed by the analysis of newly identified molecular markers. Coulpier F, et al. Glia, 2009 Oct. PMID 19243017
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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 endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within outer hair cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of endoplasmic reticulum calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within sensory perception of sound IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase TMTC4
    Names
    transmembrane O-mannosyltransferase targeting cadherins 4
    transmembrane and TPR repeat-containing protein 4
    NP_001347527.1
    NP_001347528.1
    NP_082927.1
    XP_006519573.1
    XP_006519574.1
    XP_017171671.1
    XP_017171672.1
    XP_017171674.1
    XP_030103863.1
    XP_030103864.1
    XP_030103865.1
    XP_030103866.1
    XP_030103867.1
    XP_030103868.1
    XP_030103869.1
    XP_030103870.1
    XP_030103872.1
    XP_036014738.1

    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_001360598.1 → NP_001347527.1  protein O-mannosyl-transferase TMTC4

      Status: VALIDATED

      Source sequence(s)
      AK033947, AK049748, BX512100, BY125796
      Consensus CDS
      CCDS27352.1
      UniProtKB/Swiss-Prot
      Q8BG19, Q8BT03, Q8C4D2, Q8CAC3, Q8K0I2, Q9CS83, Q9D5P3
      Conserved Domains (3) summary
      COG0457
      Location:481 → 717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482 → 510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:292 → 366
      DUF1736; Domain of unknown function (DUF1736)

    2. NM_001360599.1 → NP_001347528.1  protein O-mannosyl-transferase TMTC4

      Status: VALIDATED

      Source sequence(s)
      AK033947, AK043293, BB852647, BX512100
      Consensus CDS
      CCDS27352.1
      UniProtKB/Swiss-Prot
      Q8BG19, Q8BT03, Q8C4D2, Q8CAC3, Q8K0I2, Q9CS83, Q9D5P3
      Related
      ENSMUSP00000121523.2, ENSMUST00000148661.2
      Conserved Domains (3) summary
      COG0457
      Location:481 → 717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482 → 510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:292 → 366
      DUF1736; Domain of unknown function (DUF1736)

    3. NM_028651.3 → NP_082927.1  protein O-mannosyl-transferase TMTC4

      See identical proteins and their annotated locations for NP_082927.1

      Status: VALIDATED

      Source sequence(s)
      AK033947, BX512100, BY125796
      Consensus CDS
      CCDS27352.1
      UniProtKB/Swiss-Prot
      Q8BG19, Q8BT03, Q8C4D2, Q8CAC3, Q8K0I2, Q9CS83, Q9D5P3
      Related
      ENSMUSP00000046368.8, ENSMUST00000037726.14
      Conserved Domains (3) summary
      COG0457
      Location:481 → 717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482 → 510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:292 → 366
      DUF1736; Domain of unknown function (DUF1736)

    RNA

    1. NR_153663.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK036741, BX512100, BY125796
      Related
      ENSMUST00000143189.8

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      123156383..123220697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248003.2 → XP_030103863.1  protein O-mannosyl-transferase TMTC4 isoform X2

      Conserved Domains (3) summary
      COG0457
      Location:480 → 716
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:481 → 509
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:291 → 365
      DUF1736; Domain of unknown function (DUF1736)

    2. XM_030248004.2 → XP_030103864.1  protein O-mannosyl-transferase TMTC4 isoform X4

      Conserved Domains (3) summary
      COG0457
      Location:360 → 596
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:361 → 389
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:171 → 245
      DUF1736; Domain of unknown function (DUF1736)

    3. XM_017316183.1 → XP_017171672.1  protein O-mannosyl-transferase TMTC4 isoform X3

      UniProtKB/Swiss-Prot
      Q8BG19
      Conserved Domains (3) summary
      COG0457
      Location:361 → 597
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:362 → 390
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:172 → 246
      DUF1736; Domain of unknown function (DUF1736)

    4. XM_036158845.1 → XP_036014738.1  protein O-mannosyl-transferase TMTC4 isoform X6

      Conserved Domains (3) summary
      TIGR02917
      Location:181 → 455
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:220 → 248
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:32 → 104
      DUF1736; Domain of unknown function (DUF1736)

    5. XM_030248009.2 → XP_030103869.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    6. XM_006519511.5 → XP_006519574.1  protein O-mannosyl-transferase TMTC4 isoform X2

      Conserved Domains (3) summary
      COG0457
      Location:480 → 716
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:481 → 509
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:291 → 365
      DUF1736; Domain of unknown function (DUF1736)

    7. XM_030248005.2 → XP_030103865.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    8. XM_017316185.3 → XP_017171674.1  protein O-mannosyl-transferase TMTC4 isoform X6

      Conserved Domains (3) summary
      TIGR02917
      Location:181 → 455
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:220 → 248
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:32 → 104
      DUF1736; Domain of unknown function (DUF1736)

    9. XM_030248012.2 → XP_030103872.1  protein O-mannosyl-transferase TMTC4 isoform X6

      Conserved Domains (3) summary
      TIGR02917
      Location:181 → 455
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:220 → 248
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:32 → 104
      DUF1736; Domain of unknown function (DUF1736)

    10. XM_030248010.2 → XP_030103870.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    11. XM_030248006.2 → XP_030103866.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    12. XM_030248007.2 → XP_030103867.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    13. XM_017316182.3 → XP_017171671.1  protein O-mannosyl-transferase TMTC4 isoform X2

      Conserved Domains (3) summary
      COG0457
      Location:480 → 716
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:481 → 509
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:291 → 365
      DUF1736; Domain of unknown function (DUF1736)

    14. XM_030248008.2 → XP_030103868.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:226 → 500
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:265 → 293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75 → 149
      DUF1736; Domain of unknown function (DUF1736)

    15. XM_006519510.3 → XP_006519573.1  protein O-mannosyl-transferase TMTC4 isoform X1

      See identical proteins and their annotated locations for XP_006519573.1

      UniProtKB/Swiss-Prot
      Q8BG19, Q8BT03, Q8C4D2, Q8CAC3, Q8K0I2, Q9CS83, Q9D5P3
      Related
      ENSMUSP00000116379.2, ENSMUST00000126867.8
      Conserved Domains (3) summary
      COG0457
      Location:481 → 717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482 → 510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:292 → 366
      DUF1736; Domain of unknown function (DUF1736)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BG19.1 GenPept UniProtKB/Swiss-Prot:Q8BG19

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