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

Gene ID: 70551, updated on 5-Mar-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 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 endoplasmic reticulum. Is expressed in several structures, including adrenal gland; alimentary system; eye; genitourinary system; and nervous system. Orthologous to human TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4). [provided by Alliance of Genome Resources, Apr 2022]
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
  • 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. 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
  2. Identification of differentially expressed genes in mouse spermatogenesis. Pang AL, et al. J Androl, 2003 Nov-Dec. PMID 14581517
  3. Novel features of boundary cap cells revealed by the analysis of newly identified molecular markers. Coulpier F, et al. Glia, 2009 Oct. PMID 19243017
  4. 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
  5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

See all (19) 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)
  • Targeted (2) 
  • Endonuclease-mediated (1) 

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 mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
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
  
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 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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