Aliases for TMTC1 Gene

Aliases for TMTC1 Gene

  • Transmembrane O-Mannosyltransferase Targeting Cadherins 1 2 3 5
  • Transmembrane And Tetratricopeptide Repeat Containing 1 2 3
  • Protein O-Mannosyl-Transferase TMTC1 3 4
  • ARG99 2 3
  • OLF 2 3
  • Transmembrane And Tetratricopeptide Repeat Containing 1A 3
  • Transmembrane And TPR Repeat-Containing Protein 1 4
  • EC 2.4.1.109 4
  • FLJ31400 2
  • FLJ41625 2
  • TMTC1A 3
  • TMTC1 5

External Ids for TMTC1 Gene

Previous GeneCards Identifiers for TMTC1 Gene

  • GC12M029551
  • GC12M029547
  • GC12M029548
  • GC12M029549
  • GC12M029653
  • GC12M029422

Summaries for TMTC1 Gene

GeneCards Summary for TMTC1 Gene

TMTC1 (Transmembrane O-Mannosyltransferase Targeting Cadherins 1) is a Protein Coding gene. Diseases associated with TMTC1 include Ossification Of The Posterior Longitudinal Ligament Of Spine and Diffuse Idiopathic Skeletal Hyperostosis. An important paralog of this gene is TMTC2.

UniProtKB/Swiss-Prot Summary for TMTC1 Gene

  • Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMTC1 Gene

Genomics for TMTC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMTC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J029781 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 629.5 +1.8 1758 4 PRDM10 REST ZNF692 BACH1 LARP7 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 TMTC1 piR-43105-108 OVCH1
GH12J029768 Enhancer 0.9 Ensembl ENCODE dbSUPER 29.2 +15.9 15859 1.8 IKZF2 DPF2 RELB CEBPB GATAD2B FOS EP300 IKZF1 NR2F1 MAFK TMTC1 piR-43105-108 OVCH1
GH12J029756 Enhancer 0.6 Ensembl dbSUPER 32.5 +28.3 28345 2 FOXA2 OSR2 GLIS1 MZF1 TMTC1 piR-43105-108 OVCH1
GH12J029771 Enhancer 0.6 Ensembl ENCODE dbSUPER 29.7 +12.7 12658 1.4 ZNF664 TMTC1 piR-43105-108 OVCH1
GH12J029732 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.5 +51.9 51858 1.4 CEBPB NFE2 OSR2 NFIC ZFHX2 IKZF1 NFIB NFE2L2 GATA2 TMTC1 piR-43105-108 OVCH1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMTC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMTC1

Top Transcription factor binding sites by QIAGEN in the TMTC1 gene promoter:
  • aMEF-2
  • CUTL1
  • FOXI1
  • HFH-3
  • MEF-2A
  • Nkx6-1
  • PPAR-alpha
  • Roaz
  • SEF-1 (1)
  • Sp1

Genomic Locations for TMTC1 Gene

Genomic Locations for TMTC1 Gene
chr12:29,500,813-29,784,759
(GRCh38/hg38)
Size:
283,947 bases
Orientation:
Minus strand
chr12:29,653,746-29,937,692
(GRCh37/hg19)
Size:
283,947 bases
Orientation:
Minus strand

Genomic View for TMTC1 Gene

Genes around TMTC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMTC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC1 Gene

Proteins for TMTC1 Gene

  • Protein details for TMTC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUR5-TMTC1_HUMAN
    Recommended name:
    Protein O-mannosyl-transferase TMTC1
    Protein Accession:
    Q8IUR5
    Secondary Accessions:
    • D0EP37
    • F5H8B5
    • Q6PIU4
    • Q6ZSM5
    • Q96N52
    • Q9BXM2

    Protein attributes for TMTC1 Gene

    Size:
    882 amino acids
    Molecular mass:
    98847 Da
    Quaternary structure:
    • May interact with FAM168B.
    SequenceCaution:
    • Sequence=AAK32121.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMTC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMTC1 Gene

Post-translational modifications for TMTC1 Gene

  • Glycosylation at Asn184
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMTC1 Gene

Domains & Families for TMTC1 Gene

Protein Domains for TMTC1 Gene

Suggested Antigen Peptide Sequences for TMTC1 Gene

GenScript: Design optimal peptide antigens:
  • Osteoligament factor (Q5K675_HUMAN)
  • Transmembrane and TPR repeat-containing protein 1 (TMTC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUR5

UniProtKB/Swiss-Prot:

TMTC1_HUMAN :
  • Belongs to the TMTC family.
Family:
  • Belongs to the TMTC family.
genes like me logo Genes that share domains with TMTC1: view

Function for TMTC1 Gene

Molecular function for TMTC1 Gene

UniProtKB/Swiss-Prot Function:
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:17377, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:13546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137321; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:53396, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:13547, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137323; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.

Enzyme Numbers (IUBMB) for TMTC1 Gene

Phenotypes From GWAS Catalog for TMTC1 Gene

Gene Ontology (GO) - Molecular Function for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IMP 28973932
GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA --
GO:0005515 protein binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TMTC1: view
genes like me logo Genes that share phenotypes with TMTC1: view

Animal Model Products

CRISPR Products

miRNA for TMTC1 Gene

miRTarBase miRNAs that target TMTC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMTC1 Gene

Localization for TMTC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMTC1 Gene

Membrane. Multi-pass membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMTC1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMTC1: view

Pathways & Interactions for TMTC1 Gene

PathCards logo

SuperPathways for TMTC1 Gene

No Data Available

UniProtKB/Swiss-Prot Q8IUR5-TMTC1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
GO:0006486 protein glycosylation IEA --
GO:0035269 protein O-linked mannosylation IMP 28973932
genes like me logo Genes that share ontologies with TMTC1: view

No data available for Pathways by source and SIGNOR curated interactions for TMTC1 Gene

Drugs & Compounds for TMTC1 Gene

No Compound Related Data Available

Transcripts for TMTC1 Gene

mRNA/cDNA for TMTC1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC1

Alternative Splicing Database (ASD) splice patterns (SP) for TMTC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: - - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: -

Relevant External Links for TMTC1 Gene

GeneLoc Exon Structure for
TMTC1

Expression for TMTC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMTC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMTC1 Gene

This gene is overexpressed in Artery - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for TMTC1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMTC1 Gene



Protein tissue co-expression partners for TMTC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMTC1

SOURCE GeneReport for Unigene cluster for TMTC1 Gene:

Hs.401954

Evidence on tissue expression from TISSUES for TMTC1 Gene

  • Nervous system(4.8)
  • Pancreas(4.3)
  • Lung(2.6)
  • Muscle(2.5)
  • Kidney(2.4)
  • Heart(2.4)
  • Spleen(2.3)
  • Skin(2.2)
  • Intestine(2.1)
  • Eye(2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with TMTC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC1 Gene

Orthologs for TMTC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMTC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMTC1 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMTC1 30 31
  • 90.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMTC1 30 31
  • 88.94 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmtc1 30 17 31
  • 83.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmtc1 30
  • 83.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia TMTC1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMTC1 30 31
  • 75.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMTC1 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmtc1 30
  • 63.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC555449 30
  • 64.18 (n)
tmtc1 31
  • 64 (a)
OneToOne
Species where no ortholog for TMTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMTC1 Gene

ENSEMBL:
Gene Tree for TMTC1 (if available)
TreeFam:
Gene Tree for TMTC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMTC1: view image

Paralogs for TMTC1 Gene

(3) SIMAP similar genes for TMTC1 Gene using alignment to 4 proteins:

  • TMTC1_HUMAN
  • F8VTQ9_HUMAN
  • F8VXU8_HUMAN
  • H0YIB9_HUMAN

Pseudogenes.org Pseudogenes for TMTC1 Gene

genes like me logo Genes that share paralogs with TMTC1: view

Variants for TMTC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMTC1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
730041 Benign: not provided 29,604,282(-) C/T SYNONYMOUS_VARIANT
782547 Benign: not provided 29,768,012(-) G/A SYNONYMOUS_VARIANT
785397 Benign: not provided 29,583,398(-) T/C INTRON_VARIANT
rs17854190 - p.Val814Leu

Additional dbSNP identifiers (rs#s) for TMTC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMTC1 Gene

Variant ID Type Subtype PubMed ID
dgv2443n54 CNV loss 21841781
dgv2444n54 CNV loss 21841781
dgv2445n54 CNV loss 21841781
dgv2446n54 CNV loss 21841781
dgv2447n54 CNV loss 21841781
dgv2448n54 CNV loss 21841781
dgv273e199 CNV deletion 23128226
dgv278n67 CNV loss 20364138
esv1010064 CNV gain 20482838
esv1790446 CNV insertion 17803354
esv26855 CNV loss 19812545
esv2745688 CNV deletion 23290073
esv2745689 CNV deletion 23290073
esv3304235 CNV mobile element insertion 20981092
esv3305065 CNV mobile element insertion 20981092
esv3440187 CNV insertion 20981092
esv3449172 CNV insertion 20981092
esv3451587 CNV insertion 20981092
esv3548967 CNV deletion 23714750
esv3628990 CNV loss 21293372
esv6043 CNV loss 19470904
nsv1051913 CNV loss 25217958
nsv1053629 CNV loss 25217958
nsv1070520 CNV deletion 25765185
nsv1113471 CNV deletion 24896259
nsv1127257 CNV deletion 24896259
nsv469190 CNV gain 19166990
nsv498785 CNV loss 21111241
nsv507636 OTHER sequence alteration 20534489
nsv514661 CNV loss 21397061
nsv528476 CNV loss 19592680
nsv557917 CNV gain 21841781
nsv557921 CNV loss 21841781
nsv557949 CNV loss 21841781
nsv826292 CNV loss 20364138
nsv826294 CNV gain 20364138
nsv983298 CNV duplication 23825009

Variation tolerance for TMTC1 Gene

Residual Variation Intolerance Score: 53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMTC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMTC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC1 Gene

Disorders for TMTC1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for TMTC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ossification of the posterior longitudinal ligament of spine
  • opll
diffuse idiopathic skeletal hyperostosis
  • ankylosing vertebral hyperostosis
spinal cord disease
  • myelopathy
schizophrenia 19
  • sczd19
steroid-induced glaucoma
  • corticosteroid-induced glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search TMTC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMTC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TMTC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMTC1 Gene

Publications for TMTC1 Gene

  1. Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. (PMID: 28973932) Larsen ISB … Halim A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4
  2. TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis. (PMID: 24764305) Sunryd JC … Hebert DN (The Journal of biological chemistry 2014) 2 3
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for TMTC1 Gene

  • Signalway ELISA kits for TMTC1

Sources for TMTC1 Gene