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TAPT1 Gene

protein-coding   GIFtS: 46

GC04M015772
transmembrane anterior posterior transformation 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
CMVFR 2, 3, 5
FLJ90013 1, 2
Descriptions
Cytomegalovirus partial fusion receptor 2, 3
transmembrane anterior posterior transformation 1 2
External Ids
HGNC: 268871
Entrez Gene: 2020182
UniProtKB: Q6NXT63
Ensembl: ENSG000001697627
Search outside databases for aliases for TAPT1 gene

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

EntrezGene summary for TAPT1:
This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse
ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial
skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is
proposed to function downstream of homeobox C8 to transduce extracellular patterning information
during axial skeleton development. An alternatively spliced transcript variant encoding a
substantially different isoform has been described, but its biological validity has not been
determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: TAPT1_HUMAN, Q6NXT6
Function: May act as a downstream effector of HOXC8 possibly by transducing or transmitting
extracellular information required for axial skeletal patterning during development (By
similarity). In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain
AD169

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.32   Ensembl cytogenetic band:  4p15.32   HGNC cytogenetic band: 4p15.32

TAPT1 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 4         GeneLoc Exon Structure

GeneLoc location for GC04M015772:     (about GC identifiers)

Start:
15,771,226 bp from pter
End:
15,837,259 bp from pter
Size:
66,034 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_006316.15  
(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, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, 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: TAPT1_HUMAN, Q6NXT6 (See protein sequence)
Recommended Name: Transmembrane anterior posterior transformation protein 1 homolog  
Size: 567 amino acids; 64260 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAF28308.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q8N2S3 Q9NZK9
Alternative splicing: 2 isoforms:  Q6NXT6-1   Q6NXT6-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_699196.2  

    ENSEMBL proteins: 
    ENSP00000382803 ENSP00000385347 ENSP00000305198 


    Human Recombinant Proteins 
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                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for TAPT1: 
    Invitrogen Antibodies for TAPT1
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    Novus Biologicals Antibody for TAPT1

    Assays for TAPT1: 
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    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR008010 Membrane_Tatp1/CMV_rcpt


       GeneDecks  TAPT1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q6NXT6

    ProtoNet protein and cluster: Q6NXT6

    UniProtKB/Swiss-Prot: TAPT1_HUMAN, Q6NXT6
    Similarity: Belongs to the TAPT1 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, 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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TAPT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153365

                  Applied Biosystems Silencer® siRNAs for TAPT1

                  Sigma-Aldrich siRNA for TAPT1  
                         Sigma-Aldrich shRNA for TAPT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TAPT1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_153365
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_153365
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_153365 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_153365

    UniProtKB/Swiss-Prot: TAPT1_HUMAN, Q6NXT6
    Function: May act as a downstream effector of HOXC8 possibly by transducing or transmitting
    extracellular information required for axial skeletal patterning during development (By
    similarity). In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain
    AD169

    2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tapt1):

    lethality-prenatal/perinatalskeleton

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872 receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, 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


      --

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275 multicellular organismal development IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TAPT1

    (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, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TAPT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153365

                  Sigma-Aldrich siRNA for TAPT1  
                         Sigma-Aldrich shRNA for TAPT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_153365  

    REFSEQ mRNAs for TAPT1 gene: 

    NM_153365.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_153365  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_153365
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_153365
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_153365 

    Additional cDNA sequence: 

    AF189251.1 AK074494.1 AK296104.1 AK299163.1 BC066899.1 

    12 DOTS entries:

    DT.92424913  DT.452432  DT.121240425  DT.437131  DT.91925032  DT.92424915  DT.95334735  DT.100751767 
    DT.100751768  DT.91753937  DT.91824045  DT.97802640 

    24/130 AceView cDNA sequences (see all 130 ):

    AA463729 BQ016102 BF793455 NM_153365 BQ215133 AW117403 AK074494 CA413080 
    AA811306 BC066899 BQ006492 AI130017 AI032195 AW976422 BQ638907 BQ221946 
    BP346181 BM457357 AW006940 BG057678 AA652990 BQ774525 AW297714 BU631873 

    highest scoring ESTs for TAPT1:

    BC066899 R15368 AA193348 AA193466 AA287444 AA397807 AA503530 AA687414 AA748665 AF189251 

    Unigene Cluster for TAPT1:

    Transmembrane anterior posterior transformation 1
    Hs.479223  [show with all ESTs]
    Unigene Representative Sequence: NM_153365


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TAPT1 (see all 7 )

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c
    SP1:        -                 -           -                                   -                 -           -                 -                                 
    SP2:                          -           -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                        -           -     -                                 
    SP5:                                                                                                                    -     -                                 

    About this scheme

    ECgene alternative splicing isoforms for TAPT1

    3 Ensembl transcripts including schematic representations:
    ENST00000399920  ENST00000405303  ENST00000304584  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    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

    TAPT1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TAPT1

    1 / 2 / 3

    13 probe-sets matching TAPT1 gene


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

    47100_at2, 3 U95-B 1 1.00 1.00 0.76 1.09 AI972460 0.40 1.00 0.76 1

    46428_at2 U95-B 1 1.00 1.00 0.35 0.71 -- -- -- -- --
    64053_at2, 3 U95-C 1 1.00 1.00 0.74 1.07 AA193348 0.60 1.00 0.82 1

    47101_g_at2, 3 U95-B 1 1.00 1.00 0.91 1.49 AI972460 0.40 1.00 0.76 1

    63264_r_at2, 3 U95-C 1 0.94 1.00 0.68 0.67 R15368 0.80 1.00 0.91 1

    216373_at2, 3 U133-A 1 1.00 1.00 -- -- AF189251 0.60 1.00 0.82 1

    227407_at2, 3 U133-B 1 1.00 1.00 -- -- AI341541 0.60 1.00 0.82 1

    226735_at2, 3 U133-B 1 1.00 1.00 -- -- AI239899 0.40 1.00 0.76 1

    238798_at2 U133-B 1 0.91 1.00 -- -- -- -- -- -- --

    216373_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    227407_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    226735_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    238798_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  TAPT1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AACCCTGGAG

    SOURCE GeneReport for Unigene cluster: Hs.479223
    (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 TAPT1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TAPT11   -- transmembrane anterior posterior transformation 1 92.11(n)
    94.48(a)
    488815  XM_545933.2  XP_545933.2 
    chimpanzee
    (Pan troglodytes)
    TAPT11   -- transmembrane anterior posterior transformation 1 99.47(n)
    99.82(a)
    461128  XM_001161103.1  XP_001161103.1 
    cow
    (Bos taurus)
    TAPT11   -- transmembrane anterior posterior transformation 1 87.23(n)
    94.16(a)
    615598  XM_867454.2  XP_872547.2 
    rat
    (Rattus norvegicus)
    Tapt11   -- transmembrane anterior posterior transformation 1 87.1(n)
    91.7(a)
    305386  XM_223500.4  XP_223500.4 
    mouse
    (Mus musculus)
    Tapt11, 5 55
    transmembrane anterior posterior transformation 11, 5 90.72(n)1
    96.1(a)1
    2312251  NM_173764.31  NP_776125.21 
     AA1116485  AI4509705  (see all 13)
    About this table        Species with no ortholog for TAPT1

    ENSEMBL Gene Tree for TAPT1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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


    10/369 NCBI SNPs in TAPT1 are shown (see all 369 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 184)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs136341,2
    A,C,F,H,O15772307(-) TTTCCG/ATCTCC 1 -- ut319Minor allele frequency- A:0.30MN NA EU EA WA 930
    rs105162991,2
    A,C,F,H15772584(-) CAGGCG/ATACAT 1 -- ut3117Minor allele frequency- A:0.42NS EA NA EU WA 1094
    rs68219141,2
    A,C,F,H15770773(+) ccaagC/Ttgacc 1 -- ng518Minor allele frequency- T:0.06EU EA WA 838
    rs3178541,2
    A,C,F,H15772363(-) AAAAGG/CTTTTA 1 -- ut316Minor allele frequency- C:0.37MN EA EU WA 2074
    rs73591,2
    C,F,H,O15773587(-) TCAAAC/TGTTAC 1 -- ut31 ese312Minor allele frequency- T:0.30MN EU EA WA NA 1160
    rs3178551,2
    A,C,F,O15771572(-) TTCATG/TTTACA 1 -- ut317Minor allele frequency- T:0.43NA EA MN 566
    rs105162981,2
    C,F,H15773328(-) GCAAAA/GTGTGA 1 -- ut3112Minor allele frequency- G:0.16NS NA EU EA WA 666
    rs10462341,2
    C,F,H15773551(-) TTAAAC/GATAAG 1 -- ut318Minor allele frequency- G:0.12MN EU EA WA NA 690
    rs168931371,2
    C,F,H15774168(+) CAGAAT/CTGCTT 1 S/N mis111Minor allele frequency- C:0.00NA EU EA WA 982
    rs99461,2
    C,F,H15772319(-) TTAGAA/GTTATT 1 -- ut318Minor allele frequency- G:0.13MN NA EU EA WA 708
    About this table

    HapMap Linkage Disequilibrium images for TAPT1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 612758

    (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

    6 PubMed articles for TAPT1 gene:
    (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: 202018 HGNC: 26887 AceView: FLJ90013 Ensembl:ENSG00000169762 euGenes: HUgn202018
    ECgene: TAPT1 H-InvDB: TAPT1
    (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 Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for TAPT1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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