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Aliases for TMTC1 Gene

Aliases for TMTC1 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 1 2 3
  • 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

Summaries for TMTC1 Gene

GeneCards Summary for TMTC1 Gene

TMTC1 is a Protein Coding gene. Diseases associated with TMTC1 include diffuse idiopathic skeletal hyperostosis and spinal cord disease. An important paralog of this gene is TMTC3.

No data available for Entrez Gene 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

Genomic Location for TMTC1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC1 Gene

Regulatory Elements 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

Proteomics data for TMTC1 Gene at MOPED

Post-translational modifications for TMTC1 Gene

Other Protein References for TMTC1 Gene

No data available for DME Specific Peptides for TMTC1 Gene

Domains for TMTC1 Gene

Gene Families for TMTC1 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for TMTC1 Gene

Suggested Antigen Peptide Sequences for TMTC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUR5

UniProtKB/Swiss-Prot:

TMTC1_HUMAN
Family:
  • Belongs to the TMTC family.:
    • Q8IUR5
Similarity:
  • Contains 10 TPR repeats.:
    • Q8IUR5
genes like me logo Genes that share domains with TMTC1: view

Function for TMTC1 Gene

Gene Ontology (GO) - Molecular Function for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TMTC1: view

Phenotypes for TMTC1 Gene

GenomeRNAi human phenotypes for TMTC1:
genes like me logo Genes that share phenotypes with TMTC1: view

miRNA for TMTC1 Gene

miRTarBase miRNAs that target TMTC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TMTC1 Gene COMPARTMENTS Subcellular localization image for TMTC1 gene
Compartment Confidence
mitochondrion 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005739 mitochondrion IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMTC1: view

Pathways for TMTC1 Gene

SuperPathways for TMTC1 Gene

No Data Available

Interacting Proteins for TMTC1 Gene

Gene Ontology (GO) - Biological Process for TMTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing --
genes like me logo Genes that share ontologies with TMTC1: view

No data available for Pathways by source for TMTC1 Gene

Transcripts for TMTC1 Gene

Unigene Clusters for TMTC1 Gene

Transmembrane and tetratricopeptide repeat containing 1:
Representative Sequences:

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 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 (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TMTC1 Gene

SOURCE GeneReport for Unigene cluster for TMTC1 Gene Hs.401954

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

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.66 (n)
  • 99.66 (a)
TMTC1 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMTC1 35
  • 88.94 (n)
  • 91.79 (a)
TMTC1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC1 35
  • 90.11 (n)
  • 92.47 (a)
TMTC1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmtc1 35
  • 83.56 (n)
  • 87.39 (a)
Tmtc1 16
Tmtc1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMTC1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmtc1 35
  • 83.11 (n)
  • 86.59 (a)
chicken
(Gallus gallus)
Aves TMTC1 35
  • 75.35 (n)
  • 80.08 (a)
TMTC1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMTC1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc1 35
  • 63.32 (n)
  • 62.39 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC555449 35
  • 64.18 (n)
  • 66.04 (a)
tmtc1 36
  • 64 (a)
OneToOne
Species with no ortholog for TMTC1:
  • 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

Selected 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 MAF
rs3442 -- 29,506,109(-) AGAGT(A/G)GTGGT utr-variant-3-prime
rs3964 -- 29,688,031(+) tttaa(A/G)aaaac intron-variant
rs7503 -- 29,501,239(-) TACTC(C/T)TATTT utr-variant-3-prime
rs9376 -- 29,500,949(-) TTTAT(C/G)TTCCA utr-variant-3-prime
rs10332 -- 29,502,704(+) ATAGA(C/T)TTAAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv469190 CNV Gain 19166990
esv1790446 CNV Insertion 17803354
esv2745688 CNV Deletion 23290073
dgv278n67 CNV Loss 20364138
esv1010064 CNV Gain 20482838
nsv826292 CNV Loss 20364138
esv6043 CNV Loss 19470904
dgv273e199 CNV Deletion 23128226
nsv498785 CNV Loss 21111241
esv26855 CNV Loss 19812545
nsv514661 CNV Loss 21397061
nsv507636 CNV Insertion 20534489
esv268514 CNV Insertion 20981092
nsv528476 CNV Loss 19592680
esv269343 CNV Insertion 20981092
nsv898953 CNV Loss 21882294
nsv826294 CNV Gain 20364138
esv2745689 CNV Deletion 23290073

Relevant External Links for TMTC1 Gene

HapMap Linkage Disequilibrium report
TMTC1

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

Disorders for TMTC1 Gene

(3) University of Copenhagen DISEASES for TMTC1 Gene

Relevant External Links for TMTC1

Genetic Association Database (GAD)
TMTC1
Human Genome Epidemiology (HuGE) Navigator
TMTC1
genes like me logo Genes that share disorders with TMTC1: view

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

Publications for TMTC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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 48
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. 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

Products for TMTC1 Gene

Sources for TMTC1 Gene

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