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Tmtc3 transmembrane and tetratricopeptide repeat containing 3 [ Mus musculus (house mouse) ]

Gene ID: 237500, updated on 21-Apr-2024

Summary

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Official Symbol
Tmtc3provided by MGI
Official Full Name
transmembrane and tetratricopeptide repeat containing 3provided by MGI
Primary source
MGI:MGI:3036255
See related
Ensembl:ENSMUSG00000036676 AllianceGenome:MGI:3036255
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
mSmile; 9130014E20Rik; B130008E12Rik
Summary
Predicted to enable mannosyltransferase activity. Acts upstream of or within several processes, including lung development; muscle cell development; and post-embryonic development. Predicted to be located in endoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and trunk mesenchyme. Human ortholog(s) of this gene implicated in lissencephaly 8. Orthologous to human TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 3.8), bladder adult (RPKM 3.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
10 D1; 10 51.47 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (100279764..100323230, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (100443902..100487365, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene Aly/REF export factor family member 9 Neighboring gene THO complex 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_27735 Neighboring gene centrosomal protein 290 Neighboring gene RIKEN cDNA 1700017N19 gene Neighboring gene STARR-positive B cell enhancer mm9_chr10:100051814-100052115 Neighboring gene RNA 5'-phosphate and 3'-OH ligase 1

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. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Jerber J, et al. Am J Hum Genet, 2016 Nov 3. PMID 27773428, Free PMC Article
  2. mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development. Yun EJ, et al. Anat Rec (Hoboken), 2012 Jan. PMID 21956870
  3. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  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. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our data suggest that loss of TMTC3 causes cobblestone lissencephaly with minimal eye or muscle involvement.
    Title: Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (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 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
acts_upstream_of_or_within bud outgrowth involved in lung branching IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lung alveolus development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lung development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within muscle cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of proteasomal protein catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within post-embryonic development 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 regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
  
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
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein O-mannosyl-transferase TMTC3
Names
transmembrane O-mannosyltransferase targeting cadherins 3
transmembrane and TPR repeat-containing protein 3
NP_001028504.1
NP_001103483.1
XP_006513693.1
XP_011241751.1
XP_011241752.1
XP_017169426.1

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_001033332.2 → NP_001028504.1  protein O-mannosyl-transferase TMTC3 isoform 2

    See identical proteins and their annotated locations for NP_001028504.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, creating a novel segment containing a premature stop codon when compared to variant 1. This results in a shorter protein (isoform 2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK165838
    Consensus CDS
    CCDS24150.1
    UniProtKB/TrEMBL
    A0A0R4J173
    Related
    ENSMUSP00000096921.4, ENSMUST00000099318.10
    Conserved Domains (4) summary
    sd00006
    Location:535 → 562
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:602 → 635
    TPR_1; Tetratricopeptide repeat
    pfam08409
    Location:263 → 336
    DUF1736; Domain of unknown function (DUF1736)
    pfam13414
    Location:569 → 633
    TPR_11; TPR repeat

  2. NM_001110013.1 → NP_001103483.1  protein O-mannosyl-transferase TMTC3 isoform 1

    See identical proteins and their annotated locations for NP_001103483.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC153501, AK149759, AK165838
    Consensus CDS
    CCDS48684.1
    UniProtKB/Swiss-Prot
    Q3TMN6, Q8BRH0
    UniProtKB/TrEMBL
    G5E8C4
    Related
    ENSMUSP00000061470.9, ENSMUST00000058154.15
    Conserved Domains (3) summary
    TIGR02917
    Location:448 → 807
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:535 → 562
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:263 → 336
    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_000076.7 Reference GRCm39 C57BL/6J

    Range
    100279764..100323230 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011243450.4 → XP_011241752.1  protein O-mannosyl-transferase TMTC3 isoform X1

    See identical proteins and their annotated locations for XP_011241752.1

    UniProtKB/Swiss-Prot
    Q3TMN6, Q8BRH0
    UniProtKB/TrEMBL
    G5E8C4
    Conserved Domains (3) summary
    TIGR02917
    Location:448 → 807
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:535 → 562
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:263 → 336
    DUF1736; Domain of unknown function (DUF1736)

  2. XM_006513630.5 → XP_006513693.1  protein O-mannosyl-transferase TMTC3 isoform X1

    See identical proteins and their annotated locations for XP_006513693.1

    UniProtKB/Swiss-Prot
    Q3TMN6, Q8BRH0
    UniProtKB/TrEMBL
    G5E8C4
    Conserved Domains (3) summary
    TIGR02917
    Location:448 → 807
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:535 → 562
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:263 → 336
    DUF1736; Domain of unknown function (DUF1736)

  3. XM_011243449.4 → XP_011241751.1  protein O-mannosyl-transferase TMTC3 isoform X1

    See identical proteins and their annotated locations for XP_011241751.1

    UniProtKB/Swiss-Prot
    Q3TMN6, Q8BRH0
    UniProtKB/TrEMBL
    G5E8C4
    Conserved Domains (3) summary
    TIGR02917
    Location:448 → 807
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:535 → 562
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:263 → 336
    DUF1736; Domain of unknown function (DUF1736)

  4. XM_017313937.3 → XP_017169426.1  protein O-mannosyl-transferase TMTC3 isoform X2

    Conserved Domains (2) summary
    TIGR02917
    Location:68 → 353
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:75 → 102
    TPR; TPR repeat [structural motif]

RNA

  1. XR_004936178.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BRH0.2 GenPept UniProtKB/Swiss-Prot:Q8BRH0

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