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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMTC1 Gene

protein-coding   GIFtS: 47
GCID: GC12M029653

transmembrane and tetratricopeptide repeat containing 1

 Explore 5 diseases affiliated with
TMTC1 via our new
 Human Malady Compendium 
Biological research products
for TMTC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane And Tetratricopeptide Repeat Containing 11 2     FLJ416251
OLF1 2     TMTC1A2
ARG991     Transmembrane And Tetratricopeptide Repeat Containing 1A2
FLJ314001     Transmembrane And TPR Repeat-Containing Protein 12

External Ids:    HGNC: 240991   Entrez Gene: 838572   Ensembl: ENSG000001336877   UniProtKB: Q8IUR53   

Export aliases for TMTC1 gene to outside databases

Previous GC identifers: GC12M029551 GC12M029547 GC12M029548 GC12M029549 GC12M029422


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMTC1 gene promoter:
         HFH-3   Sp1   CUTL1   Roaz   FOXI1   PPAR-alpha   MEF-2A   Nkx6-1   SEF-1 (1)   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TMTC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMTC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMTC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p11.22   Ensembl cytogenetic band:  12p11.22   HGNC cytogenetic band: 12p11.22

TMTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMTC1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M029653:  view genomic region     (about GC identifiers)

Start:
29,653,746 bp from pter      End:
29,937,692 bp from pter
Size:
283,947 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMTC1_HUMAN, Q8IUR5 (See protein sequence)
Recommended Name: Transmembrane and TPR repeat-containing protein 1  
Size: 882 amino acids; 98847 Da
Subunit: May interact with FAM168B
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAK32121.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: D0EP37 F5H8B5 Q6PIU4 Q6ZSM5 Q96N52 Q9BXM2
Alternative splicing: 5 isoforms:  Q8IUR5-5   Q8IUR5-1   Q8IUR5-2   Q8IUR5-3   Q8IUR5-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMTC1: NX_Q8IUR5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IUR5

  • TMTC1 Protein expression data from MOPED and PaxDb:    About this image 
    TMTC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001180380.1  NP_787057.2  

    ENSEMBL proteins: 
     ENSP00000256062   ENSP00000448112   ENSP00000449043   ENSP00000442046   ENSP00000449054  
     ENSP00000370622  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMTC1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral to membrane IEA--

    TMTC1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TMTC1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMTC1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013618 DUF1736
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8IUR5

    ProtoNet protein and cluster: Q8IUR5

    UniProtKB/Swiss-Prot: TMTC1_HUMAN, Q8IUR5
    Similarity: Belongs to the TMTC family
    Similarity: Contains 10 TPR repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for TMTC1:
     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMTC1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMTC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMTC1

    1 Interacting protein for TMTC1 (Q8IUR52) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --D4AEP32MINT-8383606
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMTC1
    Search CenterWatch for drugs/clinical trials and news about TMTC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMTC1 gene (2 alternative transcripts): 
    NM_001193451.1  NM_175861.3  

    Unigene Cluster for TMTC1:

    Transmembrane and tetratricopeptide repeat containing 1
    Hs.401954  [show with all ESTs]
    Unigene Representative Sequence: NM_175861
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256062(uc001riy.3 uc001riz.3 uc001rja.3 uc021qwi.1 uc001rjb.3)
    ENST00000551659 ENST00000552618 ENST00000552925 ENST00000319685 ENST00000539277
    ENST00000553189(uc001rjc.1) ENST00000550354 ENST00000546582 ENST00000381224


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    8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate TMTC1 (see all 60):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-136 hsa-miR-520f hsa-miR-607 hsa-miR-106a hsa-miR-548k hsa-miR-200a
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMTC1 (see all 4)
    OriGene shRNA RFP: TMTC1
    OriGene siRNA: TMTC1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against TMTC1 
    Clone
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    Additional cDNA sequence: 

    AF319520.1 AF433169.1 AK022989.1 AK055962.1 AK123619.1 AL832328.1 BC007383.2 BC017984.1 
    BC028716.2 BC039460.1 BC042083.1 GQ865601.1 

    12 DOTS entries:

    DT.95364334  DT.100026918  DT.100789829  DT.100665119  DT.115190  DT.103488  DT.99979693  DT.121177362 
    DT.121177367  DT.65286256  DT.121177372  DT.75157276 

    24/233 AceView cDNA sequences (see all 233):

    BU623454 BE221202 BQ008488 C00626 AI468551 AI262824 AI290567 BC039460 
    AA447480 AA954340 BM919954 AI417542 AI084511 BE674387 AW410262 BG779904 
    BM997080 AI240733 BC017984 AI202991 NM_175861 AI057635 BG771401 BE669613 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TMTC1 (see all 6)    About this scheme

    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:                                                                                                                          -                                 


    ECgene alternative splicing isoforms for TMTC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMTC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCCGCCTG
    TMTC1 Expression
    About this image

    TMTC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See TMTC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMTC1

    SOURCE GeneReport for Unigene cluster: Hs.401954
        SABiosciences Custom PCR Arrays for TMTC1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMTC1 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMTC11 transmembrane and tetratricopeptide repeat containing more 75.6(n)
    80.67(a)
      418143  XM_416374.3  XP_416374.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMTC16
    --
    71(a)
    1 ↔ 1
    5(10997103-11161129)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5554491 similar to ARG99 protein 64.94(n)
    66.94(a)
      555449  XM_001921990.3  XP_001922025.3 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    28(a)
    1 ↔ 1
    Group6.8(78757-275431)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMTC1 gene
    TMTC32  TMTC22  OGT2  TMTC42  
    3 SIMAP similar genes for TMTC1 using alignment to 4 protein entries:     TMTC1_HUMAN (see all proteins):
    TMTC3    TMTC2    TMTC4

    TMTC1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for TMTC1
    PGOHUM00000258619 PGOHUM00000258669 PGOHUM00000239717


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5632 NCBI SNPs in TMTC1 are shown (see all 5632    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452521881,2
    --29653303(+) ACAAAC/TTGACA 2 -- int10--------
    rs8228761,2
    C,F,O,A,H--29653718(-) TGTCCA/GTGTCA 2 -- int128Minor allele frequency- G:0.17NS EA NA CSA WA 2964
    rs110502601,2
    C,F,H--29653741(+) AACCAT/AGAAGT 2 -- int117Minor allele frequency- A:0.09NS EA NA 2128
    rs1476038181,2
    --29653779(+) TATTTA/TAATCA 2 -- ut310--------
    rs1399813151,2
    --29653813(+) ACATAA/CATTTA 2 -- ut310--------
    rs1454462771,2
    --29653842(+) CAAAGA/TATACA 2 -- ut310--------
    rs93761,2
    C,F,O,H--29653882(-) TTTATC/GTTCCA 2 -- ut317Minor allele frequency- G:0.08MN NS NA EA 668
    rs1464456751,2
    --29653887(+) ATAAA-/ATTTCTA 2 -- ut310--------
    rs1148500711,2
    F--29653895(+) CTAACG/AGGCAC 2 -- ut311Minor allele frequency- A:0.03WA 118
    rs680170431,2
    C--29653900(+) NNNNAC/AAGCCA 2 -- ut313Minor allele frequency- A:0.12WA NA 240

    HapMap Linkage Disequilibrium report for TMTC1 (29653746 - 29903746 bp, first 250kb of TMTC1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TMTC1
         3 CNVs: 86288 61220 66171

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMTC1
    DNA2.0 Custom Variant and Variant Library Synthesis for TMTC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMTC1 for disorders           About GeneDecksing

    5 diseases for TMTC1:    About MalaCards
    diffuse idiopathic skeletal hyperostosis    spinal cord disease    femoral neuropathy    hyperostosis
    neuropathy

    3 diseases from the University of Copenhagen DISEASES database for TMTC1:
    Spinal cord disease     Diffuse idiopathic skeletal hyperostosis     Radiculopathy
    Human Genome Epidemiology (HuGE) Navigator: TMTC1 (7 documents)

    Export disorders for TMTC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMTC1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TMTC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genome-wide association study of multiplex schizophren ia pedigrees. (PubMed id 22885689)1 Levinson D.F....Holmans P.A. (2012)
    4. Characterizing the neurite outgrowth inhibitory effect of Mani. (PubMed id 22771904)2 Mishra M.... Heese K. (2012)
    5. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospecti ve meta-analysis from the cohorts for heart and aging research in genomic epide miology (CHARGE) consortium. (PubMed id 20445134)1 Smith N.L....Vasan R.S. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    9. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83857 HGNC: 24099 AceView: ARG99 Ensembl:ENSG00000133687 euGenes: HUgn83857
    ECgene: TMTC1 H-InvDB: TMTC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMTC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMTC1 gene:
    Search GeneIP for patents involving TMTC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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