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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 TMTC2.

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

Regulatory Elements for TMTC1 Gene

Enhancers for TMTC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G029781 1.2 ENCODE dbSUPER 28.5 +1.7 1715 3.5 PKNOX1 ARNT SIN3A FEZF1 GLIS2 ZNF263 JUNB REST TBX21 ZNF579 TMTC1 GC12P029760
GH12G029768 1 ENCODE dbSUPER 29.2 +15.7 15697 1.5 HINFP ZNF335 FOSL1 GATA2 RELB FOS IKZF2 MAFK NFE2L2 MTA2 TMTC1 GC12P029760
GH12G029739 1.4 Ensembl ENCODE dbSUPER 8 +42.4 42436 6.5 TBP FEZF1 ZEB1 ZNF121 ZNF366 SCRT2 FOS ZNF362 USF2 CEBPB TMTC1 GC12M029751 PIR32814 GC12M029727
GH12G029691 1.3 FANTOM5 Ensembl ENCODE 7.2 +93.3 93298 0.9 CTCF PKNOX1 MTA2 GATAD2B EBF1 DPF2 TBX21 IKZF1 POU5F1 NBN TMTC1 GC12P029725 RPL21P99
GH12G029732 0.8 ENCODE dbSUPER 11.2 +52.3 52337 0.2 OSR2 GATA3 NFIC NFIB GATA2 TMTC1 PIR32814 GC12M029727 GC12M029751
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMTC1 on UCSC Golden Path with GeneCards custom track

Promoters for TMTC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000050445 1359 2800 PKNOX1 ARNT SIN3A FEZF1 GLIS2 FOS ZNF263 JUNB REST TBX21

Genomic Location for TMTC1 Gene

Chromosome:
12
Start:
29,500,813 bp from pter
End:
29,784,759 bp from pter
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:
    Transmembrane and TPR repeat-containing protein 1
    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=Translation N-terminally extended.; 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 Asn76
  • Modification sites at PhosphoSitePlus

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

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

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

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

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

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

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
ECgene alternative splicing isoforms for
TMTC1

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:

TMTC1

SOURCE GeneReport for Unigene cluster for TMTC1 Gene:

Hs.401954

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
chimpanzee
(Pan troglodytes)
Mammalia TMTC1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia TMTC1 34 35
  • 90.11 (n)
cow
(Bos Taurus)
Mammalia TMTC1 34 35
  • 88.94 (n)
mouse
(Mus musculus)
Mammalia Tmtc1 34 16 35
  • 83.56 (n)
rat
(Rattus norvegicus)
Mammalia Tmtc1 34
  • 83.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TMTC1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMTC1 34 35
  • 75.35 (n)
lizard
(Anolis carolinensis)
Reptilia TMTC1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc1 34
  • 63.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555449 34
  • 64.18 (n)
tmtc1 35
  • 64 (a)
OneToOne
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

ENSEMBL:
Gene Tree for TMTC1 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs1000020101 -- 29,768,413(+) CACTG(C/T)TGGCT intron-variant
rs1000020839 -- 29,720,840(+) AAATA(C/T)ATCCA intron-variant
rs1000029919 -- 29,768,133(+) AAACA(A/C)AAGGA intron-variant
rs1000030110 -- 29,500,861(+) TTATA(C/T)AAAAT upstream-variant-2KB, utr-variant-3-prime
rs1000034584 -- 29,726,865(+) TTATC(C/T)CTTCC intron-variant

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)

Relevant External Links for TMTC1 Gene

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

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 and GeneCards

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

Relevant External Links for TMTC1

Genetic Association Database (GAD)
TMTC1
Human Genome Epidemiology (HuGE) Navigator
TMTC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMTC1
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 J.C. … Hebert D.N. (J. Biol. Chem. 2014) 2 3 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TMTC1 Gene

Sources for TMTC1 Gene

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