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TUFT1 Gene

protein-coding   GIFtS: 52

GC01P149779
tuftelin 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000014511 2
Descriptions
tuftelin 1 1, 2
External Ids
HGNC: 124221
Entrez Gene: 72862
UniProtKB: Q9NNX13
Ensembl: ENSG000001433677
Search outside databases for aliases for TUFT1 gene

Previous GC identifers: GC01P149354 GC01P147260 GC01P148287 GC01P148729 GC01P148325

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: TUFT1_HUMAN, Q9NNX1
Function: Involved in the mineralization and structural organization of enamel

Gene Wiki entry for TUFT1 (Tuftelin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views According to UCSC and Ensembl)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

TUFT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P149779:     (about GC identifiers)

Start:
149,779,405 bp from pter
End:
149,822,683 bp from pter
Size:
43,279 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, BioMol, Abnova, and/or Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or BioMol, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TUFT1_HUMAN, Q9NNX1 (See protein sequence)
Recommended Name: Tuftelin  
Size: 390 amino acids; 44264 Da
Subunit: Interacts with TFIP11 (By similarity)
Subcellular location: Secreted (By similarity). Note=Secreted at a very early stage of enamel
formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the
growing crystallites (By similarity)
Secondary accessions: Q5T384 Q5T385 Q9BU28 Q9H5L1
Alternative splicing: 3 isoforms:  Q9NNX1-1   Q9NNX1-2   Q9NNX1-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001119809.1  NP_064512.1  


    ENSEMBL proteins: 
    ENSP00000357842 ENSP00000357841 ENSP00000343781 ENSP00000376476 


    Human Recombinant Proteins 
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    Browse R&D Systems for human recombinant proteins
    Browse over 400 recombinant and purified proteins available from BIOMOL
    Recombinant Proteins from Abcam (Tuftelin 1)
    Human Recombinant Proteins from Abnova (TUFT1)

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0005576 extracellular region NAS12489194
    GO:0005737 cytoplasm IDA11256614
    About this table

    Antibodies for TUFT1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Tuftelin 1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TUFT1)
    Novus Biologicals Antibodies for TUFT1

    Assays for TUFT1: 
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    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from BIOMOL

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

    ProtoNet protein and cluster: Q9NNX1

    UniProtKB/Swiss-Prot: TUFT1_HUMAN, Q9NNX1
    Similarity: Belongs to the tuftelin family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas, RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    RNAi:Invitrogen RNAi Products for gene knock-down (TUFT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products

    Clones:Invitrogen Clones for TUFT1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

    1 OriGene genome-wide validation SYBR primer pairs:

    NM_020127
     

    siRNA: Applied Biosystems Silencer® siRNAs for TUFT1


    UniProtKB/Swiss-Prot: TUFT1_HUMAN, Q9NNX1
    Function: Involved in the mineralization and structural organization of enamel

    Genatlas biochemistry entry for TUFT1:
    tuftelin,acidic enamelin protein,that plays a major role in the mineralization and structural
    organization of enamel

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0030345 structural constituent of tooth enamel NAS12489194
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0030282 bone mineralization NAS12489194
    GO:0042476 odontogenesis NAS12489194
    About this table

    5/8 Interacting proteins for TUFT1 (ENSP000003578423) via UniProtKB, MINT, and/or STRING (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFIP11ENSP000002631153STRING (score=.98)
    AMBNENSP000003138093STRING (score=.908)
    ENAMENSP000002548003STRING (score=.896)
    AMELXENSP000003700883STRING (score=.879)
    DSPPENSP000002824783STRING (score=.746)
    About this table
    (Chemical Compounds according to UniProtKB, BioMol, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to BioMol and/or PharmGKB)
    About This Section

    Browse drugs & compounds from BIOMOL
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TUFT1
    1 Novoseek chemical compound relationship for TUFT1 gene 
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gold 19.33 1 7626400 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems,
    HuSH-29 shRNA from OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    RNAi:Invitrogen RNAi Products for gene knock-down (TUFT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products

    2 OriGene 29mer shRNA kit in GFP-retroviral vectors (4 constructs per gene plus two negative controls):

    NM_020127 NM_001126337
     

    REFSEQ mRNAs for TUFT1 gene (2 alternative transcripts): 

    NM_001126337.1   NM_020127.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001126337  NM_020127  

    Applied Biosystems Silencer® siRNAs: 

    NM_001126337  NM_020127  

    2 OriGene GFP tagged cDNA clones in CMV expression vector:

    NM_001126337 NM_020127
     

    2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector:

    NM_001126337 NM_020127
     

    2 OriGene untagged cDNA clones in CMV expression vector:

    NM_001126337 NM_020127
     

    Additional cDNA sequence: 

    AF086205.1 AF254260.1 AK026989.1 AK075001.1 AK223161.1 AK298066.1 AK299263.1 AK299925.1 
    AK315414.1 AL136917.1 AY358610.1 BC002933.1 BC008301.1 

    8 DOTS entries:

    DT.95267565  DT.100776330  DT.210831  DT.91749693  DT.121361234  DT.40298072  DT.121361244  DT.99985438 

    24/64 AceView cDNA sequences (see all 64):

    BQ719901 AI458334 AI168826 BM464349 BU192294 BQ958944 BQ887143 BX504930 
    AL043356 BQ425395 BP342044 BE903227 AA400891 BE733924 BQ945826 AK075001 
    AI699870 AL603195 BM786473 AF086205 AL136917 AI925461 BQ072206 AA456800 

    highest scoring ESTs for TUFT1:

    AK026989 AL043356 BG117276 BI053941 BQ351637 BQ360710 BQ425395 BQ719901 BQ945826 CA487739 

    Unigene Cluster for TUFT1:

    Tuftelin 1
    Hs.489922  [show with all ESTs]
    Unigene Representative Sequence: NM_020127


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TUFT1

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:        -     -           -                             -                                                   
    SP2:                                                                                                            
    SP3:              -     -     -                                                                                 
    SP4:                                                                                                            

    About this scheme

    ECgene alternative splicing isoforms for TUFT1

    4 Ensembl transcripts including schematic representations:
    ENST00000368849  ENST00000368848  ENST00000353024  ENST00000392712  
    (Experimental results according to 1GeneNote and GNF SymAtlas,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TUFT1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TUFT1

    Expression according to 1 / 2 / 3

    2 probe-sets matching TUFT1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    205807_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_020127 0.60 1.00 0.82 1

    205807_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF SymAtlas  (See also BioGPS)
        About these images
    About these images

    CGAP SAGE TAG: TTTCTTCCCT

    SOURCE GeneReport for Unigene cluster: Hs.489922
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for TUFT1 gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TUFT11   -- tuftelin 1 88.58(n)
    84.96(a)
    483199  XM_540317.2  XP_540317.2 
    chimpanzee
    (Pan troglodytes)
    TUFT11   -- tuftelin 1 99.06(n)
    98.21(a)
    747604  XM_001172471.1  XP_001172471.1 
    cow
    (Bos taurus)
    TUFT11   -- tuftelin 1 90.43(n)
    89.23(a)
    282104  NM_174479.2  NP_776904.1 
    rat
    (Rattus norvegicus)
    Tuft11   -- tuftelin 1 88.97(n)
    88.46(a)
    365864  XM_345244.3  XP_345245.3 
    mouse
    (Mus musculus)
    Tuft11, 5 35
    tuftelin 11, 5 89.23(n)1
    88.97(a)1
    221561  NM_011656.21  NP_035786.11 
     AA6120525  AF0028605  (see all 11)
    About this table        Species with no ortholog for TUFT1

    ENSEMBL Gene Tree for TUFT1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TUFT1 gene
    CCDC682  GRINL1B2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/249 NCBI SNPs in TUFT1 are shown (see all 249)
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 99)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs127491,2
    A,C,F,H,O149822365(-) CAAGGC/TTGTAG 2 -- ut31 ese318Minor allele frequency- N:0.00MN EU EA WA NA 1844
    rs18915921,2
    A,C,F,H149821127(-) ATGGCA/GCAGCC 2 -- ut318Minor allele frequency- G:0.46EA NA EU WA 1818
    rs38280541,2
    C,F,H149779519(-) CCGCCT/CGGTCC 2 R/Q mis1 ese38Minor allele frequency- C:0.06EU EA WA 836
    rs38280551,2
    C,F,H149779050(-) TCCATA/GCATGC 1 -- ng51 tfbs32Minor allele frequency- G:0.07EA 168
    rs168333951,2
    C,F,H149817889(+) GCTCAA/GGAGCC 2 K/R mis1 ese311Minor allele frequency- G:0.03NA EU EA WA 962
    --
    rs66940471,2
    A,C149778319(+) gcgccC/TggccA 1 -- ng510--------
    rs75257051,2
    C,H149813380(+) ACTCAG/ACCGGT 2 N/S mis1 ese38Minor allele frequency- A:0.00EU EA WA 840
    --
    rs65876051,2
    A,C149822325(+) TACTGC/TGCCCG 2 -- ut31 ese30--------
    rs168333741,2
    F,H149779404(+) GCGCCC/AGCCCA 1 -- ng517Minor allele frequency- A:0.00NA EU EA WA 558
    rs75399911,2
    F,H149822682(+) TCTTTG/TACCTC 2 -- ut314Minor allele frequency- T:0.01EU EA WA 412
    About this table

    HapMap Linkage Disequilibrium images for TUFT1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 600087

    2 Novoseek disease relationships for TUFT1 gene 

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 91.84 3 7554940 (1), 9189626 (1), 9189622 (1)
    genetic disorder 47.10 1 7554940 (1)
    About this table

    Human Genome Epidemiology Navigator: TUFT1 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/40 PubMed articles for TUFT1 gene (see all 40):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 7286 HGNC: 12422 AceView: TUFT1 Ensembl:ENSG00000143367 euGenes: HUgn7286
    ECgene: TUFT1 H-InvDB: TUFT1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by BioMol and/or Tocris Bioscience)
    About This Section



    Products for TUFT1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for TUFT1-related products

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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Browse antibodies at Sigma-Aldrich
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     Tocris compounds for TUFT1




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