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Aliases for TMTC1 Gene

Aliases for TMTC1 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 1 2 3 5
  • Transmembrane And Tetratricopeptide Repeat Containing 1A 3
  • Transmembrane And TPR Repeat-Containing Protein 1 3
  • TMTC1A 3
  • ARG99 3
  • OLF 3

External Ids for TMTC1 Gene

Previous GeneCards Identifiers for TMTC1 Gene

  • GC12M029551
  • GC12M029547
  • GC12M029548
  • GC12M029549
  • GC12M029653

Summaries for TMTC1 Gene

GeneCards Summary for TMTC1 Gene

TMTC1 (Transmembrane And Tetratricopeptide Repeat Containing 1) is a Protein Coding gene. Diseases associated with TMTC1 include Spinal Cord Disease and Brown-Sequard Syndrome. An important paralog of this gene is TMTC4.

Additional gene information for TMTC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMTC1 Gene

Genomics for TMTC1 Gene

GeneHancer (GH) Regulatory Elements for TMTC1 Gene

Promoters and enhancers for TMTC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I029781 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 578.5 +1.7 1701 3.6 PKNOX1 ARNT SIN3A FEZF1 GLIS2 ATF7 JUNB REST MAFF STAT3 TMTC1 GC12P029760
GH12I029768 Enhancer 0.8 ENCODE dbSUPER 29.2 +15.7 15696 1.5 NR2F1 CEBPB DPF2 EP300 IKZF1 ZFP36 FOS HNF4A IKZF2 TMTC1 GC12P029760
GH12I029739 Enhancer 1.2 Ensembl ENCODE dbSUPER 8 +42.4 42435 6.5 FEZF1 ZEB1 ZNF121 ZNF366 SCRT2 ZNF362 USF2 CEBPB TSHZ1 ZEB2 TMTC1 GC12M029751 PIR32814 GC12M029727
GH12I029691 Enhancer 1.1 FANTOM5 Ensembl ENCODE 7.2 +93.3 93298 0.9 PKNOX1 SMAD1 EBF1 ELF1 DPF2 BCL11A IKZF1 POU5F1 NBN IKZF2 TMTC1 GC12P029725 RPL21P99
GH12I029732 Enhancer 0.6 ENCODE dbSUPER 11.2 +52.3 52336 0.2 OSR2 NFIC NFIB TMTC1 PIR32814 GC12M029727 GC12M029751
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMTC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMTC1 gene promoter:

Genomic Locations for TMTC1 Gene

Genomic Locations for TMTC1 Gene
283,947 bases
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:
    Recommended name:
    Transmembrane and TPR repeat-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • D0EP37
    • F5H8B5
    • Q6PIU4
    • Q6ZSM5
    • Q96N52
    • Q9BXM2

    Protein attributes for TMTC1 Gene

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

    Alternative splice isoforms for TMTC1 Gene


neXtProt entry for TMTC1 Gene

Post-translational modifications for TMTC1 Gene

No data available for DME Specific Peptides for TMTC1 Gene

Domains & Families for TMTC1 Gene

Gene Families for TMTC1 Gene

Protein Domains for TMTC1 Gene

Suggested Antigen Peptide Sequences for TMTC1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for TMTC1 Gene

Phenotypes From GWAS Catalog for TMTC1 Gene

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

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
plasma membrane 3
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1

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:0005739 mitochondrion 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

SuperPathways for TMTC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
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

Unigene Clusters for TMTC1 Gene

Transmembrane and tetratricopeptide repeat containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for

Expression for TMTC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TMTC1 Gene

Protein tissue co-expression partners for TMTC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMTC1 Gene:


SOURCE GeneReport for Unigene cluster for TMTC1 Gene:


Evidence on tissue expression from TISSUES for TMTC1 Gene

  • Nervous system(4.7)
  • Pancreas(4.2)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with TMTC1: view

Primer Products

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
(Pan troglodytes)
Mammalia TMTC1 33 34
  • 99.66 (n)
(Canis familiaris)
Mammalia TMTC1 33 34
  • 90.11 (n)
(Bos Taurus)
Mammalia TMTC1 33 34
  • 88.94 (n)
(Mus musculus)
Mammalia Tmtc1 33 16 34
  • 83.56 (n)
(Rattus norvegicus)
Mammalia Tmtc1 33
  • 83.11 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
-- 34
  • 72 (a)
-- 34
  • 41 (a)
(Monodelphis domestica)
Mammalia TMTC1 34
  • 74 (a)
(Gallus gallus)
Aves TMTC1 33 34
  • 75.35 (n)
(Anolis carolinensis)
Reptilia TMTC1 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc1 33
  • 63.32 (n)
(Danio rerio)
Actinopterygii LOC555449 33
  • 64.18 (n)
tmtc1 34
  • 64 (a)
Species where no ortholog for TMTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for TMTC1 (if available)
Gene Tree for TMTC1 (if available)

Paralogs for TMTC1 Gene

Paralogs for TMTC1 Gene

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

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

Variants for TMTC1 Gene

Sequence variations from dbSNP and Humsavar for TMTC1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000020101 -- 29,768,413(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000020839 -- 29,720,840(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000029919 -- 29,768,133(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000030110 -- 29,500,861(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000034584 -- 29,726,865(-) C/T genic_upstream_transcript_variant, intron_variant

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

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

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

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

Disorders for TMTC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinal cord disease
  • myelopathy
brown-sequard syndrome
  • brown-squard syndrome
femoral neuropathy
  • femoral nerve dysfunction
- 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
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 44 58
  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 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TMTC1 Gene

Sources for TMTC1 Gene

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