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

Gene ID: 387314, updated on 20-Apr-2024

Summary

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 mannosyltransferase activity. Predicted to be involved in protein O-linked mannosylation. Located in mitochondrion. Is expressed in forelimb bud and nervous system. Orthologous to human TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in heart adult (RPKM 8.8), frontal lobe adult (RPKM 6.6) and 22 other tissues See more
Orthologs
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Genomic context

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

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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
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
 
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

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_001347518.2NP_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_001411790.1NP_001398719.1  protein O-mannosyl-transferase TMTC1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC126683, AC142274
  3. NM_198967.6NP_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:529942
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:642670
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:351425
    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_036166270.1XP_036022163.1  protein O-mannosyl-transferase TMTC1 isoform X1

    Conserved Domains (3) summary
    TIGR02917
    Location:529909
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:642670
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:352425
    DUF1736; Domain of unknown function (DUF1736)
  2. XM_036166273.1XP_036022166.1  protein O-mannosyl-transferase TMTC1 isoform X4

    Conserved Domains (3) summary
    TIGR02917
    Location:412816
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:516544
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:264337
    DUF1736; Domain of unknown function (DUF1736)
  3. XM_036166272.1XP_036022165.1  protein O-mannosyl-transferase TMTC1 isoform X3

    Conserved Domains (3) summary
    TIGR02917
    Location:441854
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:554582
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:264337
    DUF1736; Domain of unknown function (DUF1736)
  4. XM_006507072.5XP_006507135.1  protein O-mannosyl-transferase TMTC1 isoform X8

    Conserved Domains (3) summary
    TIGR02917
    Location:180593
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:293321
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:276
    DUF1736; Domain of unknown function (DUF1736)
  5. XM_036166271.1XP_036022164.1  protein O-mannosyl-transferase TMTC1 isoform X2

    Conserved Domains (4) summary
    COG0457
    Location:552788
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    PRK10049
    Location:732864
    pgaA; outer membrane protein PgaA; Provisional
    sd00006
    Location:642670
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:352425
    DUF1736; Domain of unknown function (DUF1736)
  6. XM_017321670.3XP_017177159.1  protein O-mannosyl-transferase TMTC1 isoform X7

    Conserved Domains (3) summary
    TIGR02917
    Location:505649
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:543571
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:351425
    DUF1736; Domain of unknown function (DUF1736)
  7. XM_011241620.4XP_011239922.1  protein O-mannosyl-transferase TMTC1 isoform X6

    Conserved Domains (3) summary
    TIGR02917
    Location:505649
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:543571
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:351425
    DUF1736; Domain of unknown function (DUF1736)
  8. XM_011241618.4XP_011239920.1  protein O-mannosyl-transferase TMTC1 isoform X5

    Conserved Domains (3) summary
    TIGR02917
    Location:505649
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:543571
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:351425
    DUF1736; Domain of unknown function (DUF1736)

RNA

  1. XR_004942979.1 RNA Sequence