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TTPA Gene

protein-coding   GIFtS: 60
GCID: GC08M063961

Tocopherol (Alpha) Transfer Protein

(Previous name: ataxia (Friedreich-like) with vitamin E deficiency)
(Previous symbol: AVED)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Tocopherol (Alpha) Transfer Protein1 2     Alpha-Tocopherol Transfer Protein2
AVED1 2 5     alphaTTP2
TTP12 5     Tocopherol (Alpha) Transfer Protein (Ataxia (Friedreich-Like) With Vitamin
E Deficiency)2
Ataxia (Friedreich-Like) With Vitamin E Deficiency1     Alpha-TTP3
ATTP2     TPP13
alpha-TTP2     

External Ids:    HGNC: 124041   Entrez Gene: 72742   Ensembl: ENSG000001375617   OMIM: 6004155   UniProtKB: P496383   
ORGUL members:         

Export aliases for TTPA gene to outside databases

Previous GC identifers: GC08M063337 GC08M063913 GC08M063695 GC08M064022 GC08M064134 GC08M059459


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTPA Gene:
This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and
affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin
E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating
lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency,
AVED) and retinitis pigmentosa. (provided by RefSeq, Nov 2009)

GeneCards Summary for TTPA Gene:
TTPA (tocopherol (alpha) transfer protein) is a protein-coding gene. Diseases associated with TTPA include ataxia with vitamin e deficiency, and hereditary ataxia. GO annotations related to this gene include phosphatidylinositol-3,4-bisphosphate binding and transporter activity. An important paralog of this gene is TTPAL.

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638
Function: Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release
from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the
resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)

Gene Wiki entry for TTPA (Alpha-tocopherol transfer protein) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTPA gene promoter:
         LHX3b/Lhx3b   FOXD1   MEF-2A   PPAR-alpha   FAC1   Cart-1   LHX3a/Lhx3a   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTPA promoter sequence
   Search Chromatin IP Primers for TTPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTPA


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

Entrez Gene cytogenetic band: 8q12.3   Ensembl cytogenetic band:  8q12.3   HGNC cytogenetic band: 8q12.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M063961:  view genomic region     (about GC identifiers)

Start:
63,961,112 bp from pter      End:
63,998,612 bp from pter
Size:
37,501 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638 (See protein sequence)
Recommended Name: Alpha-tocopherol transfer protein  
Size: 278 amino acids; 31750 Da
Subunit: Monomer and homotetramer. Phosphatidylinol 4,5-bisphosphate binding induces the formation of
homotetramers. Phosphatidylinol 3,4-bisphosphate is less efficient in inducing tetramerization (By similarity)
3 PDB 3D structures from and Proteopedia for TTPA:
1OIP (3D)        1OIZ (3D)        1R5L (3D)    
Secondary accessions: Q71V64

Explore the universe of human proteins at neXtProt for TTPA: NX_P49638

Explore proteomics data for TTPA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TTPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000361.1  
    ENSEMBL proteins: 
     ENSP00000260116  

    TTPA Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001071 CRAL-bd_toc_tran
     IPR001251 CRAL-TRIO_dom
     IPR011074 CRAL/TRIO_N_dom

    Graphical View of Domain Structure for InterPro Entry P49638

    ProtoNet protein and cluster: P49638

    3 Blocks protein domains:
    IPB001071 Cellular retinaldehyde-binding protein signature
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB008273 Cellular retinaldehyde-binding/triple function


    UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638
    Similarity: Contains 1 CRAL-TRIO domain


    TTPA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTPA_HUMAN, P49638
    Function: Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release
    from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the
    resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)

         Genatlas biochemistry entry for TTPA:
    alpha-tocopherol transfer protein

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding ISS--
    GO:0008431vitamin E binding ISS--
    GO:0019842vitamin binding ----
    GO:0043325phosphatidylinositol-3,4-bisphosphate binding ISS--
         
    TTPA for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ttpa):
     behavior/neurological  cardiovascular system  embryogenesis  homeostasis/metabolism  muscle 
     nervous system  reproductive system  vision/eye 

    TTPA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ttpatm1Hsz for TTPA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TTPA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTPA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTPA

    miRNA
    Products:
        
    miRTarBase miRNAs that target TTPA:
    hsa-mir-215-5p (MIRT024457), hsa-mir-192-5p (MIRT026314)

    Block miRNA regulation of human, mouse, rat TTPA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTPA (see all 21):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-1178 hsa-miR-125a-5p hsa-miR-3660 hsa-miR-30d hsa-miR-340 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidTTPA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TTPA
    Predesigned siRNA for gene silencing in human, mouse, rat TTPA

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TTPA (NM_000370)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTPA

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTPA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TTPA_HUMAN, P49638: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endosome2
    nucleus2
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005770late endosome IEA--
    GO:0005829cytosol IEA--

    TTPA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTPA
    Interactions:

        Search GeneGlobe Interaction Network for TTPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for TTPA (P496383 ENSP000002601164) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR3C1P041503I2D: score=1 
    MGMTENSP000003021114STRING: ENSP00000302111
    EXOC4ENSP000002538614STRING: ENSP00000253861
    MRGBPENSP000003595184STRING: ENSP00000359518
    PFDN4ENSP000003604734STRING: ENSP00000360473
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development ----
    GO:0001892embryonic placenta development IEA--
    GO:0006629lipid metabolic process TAS7887897
    GO:0006810transport TAS7887897
    GO:0007584response to nutrient IEA--

    TTPA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTPA

    1 HMDB Compound for TTPA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-TocopherolVitamin Ea (see all 22)59-02-9--

    2 DrugBank Compounds for TTPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-{2-[2-(2-Methoxyethoxy)Ethoxy]Ethoxy}-4-(1,1,3,3-Tetramethylbutyl)Benzene-- --carrier--17139284 17016423 10592235
    Vitamin Ealpha-Tocopherol (see all 2)59-02-9carrier----

    Selected Novoseek inferred chemical compound relationships for TTPA gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha tocopherol 92.5 321 20368946 (5), 14531858 (5), 20187127 (4), 9356467 (4) (see all 99)
    tocopherol 91.1 56 18458085 (3), 15318806 (2), 15753136 (2), 15753158 (2) (see all 28)
    vitamin-e 88.6 139 10082886 (3), 10727494 (3), 20368946 (3), 18458085 (3) (see all 57)
    delta-tocopherol 75.3 1 16491383 (1)
    alpha-tocopherol quinone 64.6 3 9801162 (2)
    lipid 31.2 6 19458973 (1), 12767229 (1), 18458085 (1), 16430203 (1)
    phosphatidylinositol 25.7 3 11226224 (1), 12767229 (1)
    cholesterol 13.9 3 9356467 (1), 20387845 (1), 10540874 (1)
    atp 0 1 17252538 (1)
    oxygen 0 3 10867030 (1), 18511174 (1)



    TTPA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TTPA gene: 
    NM_000370.3  

    Unigene Cluster for TTPA:

    Tocopherol (alpha) transfer protein
    Hs.69049  [show with all ESTs]
    Unigene Representative Sequence: NM_000370
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521138 ENST00000260116(uc003xux.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat TTPA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTPA (see all 21):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-1178 hsa-miR-125a-5p hsa-miR-3660 hsa-miR-30d hsa-miR-340 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidTTPA 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TTPA (NM_000370)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTPA
      QuantiTect SYBR Green Assays in human, mouse, rat TTPA
      QuantiFast Probe-based Assays in human, mouse, rat TTPA

    Additional mRNA sequence: 

    BC041784.1 BC058000.1 D49488.1 U21938.1 

    2 DOTS entries:

    DT.101976708  DT.204951 

    18 AceView cDNA sequences:

    BX283648 BC058000 BM463341 D49488 NM_000370 AL119672 BG614543 BX101071 
    BC041784 AW043604 U21938 BE971379 BG427807 H68464 N56849 H68830 
    AA703331 BG400921 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTPA expression in normal human tissues (normalized intensities)      TTPA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTCACAAA
    TTPA Expression
    About this image


    TTPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Liver (Hepatobiliary System)
    TTPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.69049
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTPA

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTPA gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttpa1 , 5 tocopherol (alpha) transfer protein1, 5 86.57(n)1
    89.21(a)1
      4 (7.76 cM)5
    505001  NM_015767.31  NP_056582.11 
     200079385 
    chicken
    (Gallus gallus)
    Aves TTPA1 tocopherol (alpha) transfer protein 74.16(n)
    73.41(a)
      771074  XM_001234375.2  XP_001234376.2 
    lizard
    (Anolis carolinensis)
    Reptilia TTPA6
    tocopherol (alpha) transfer protein
    69(a)
    1 ↔ 1
    4(29427324-29450489)
    zebrafish
    (Danio rerio)
    Actinopterygii wufd44e052 wufd44e05 76.8(n)   325906  BC055617.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102373 retinal binding 32(a)   37E1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTPA gene
    TTPAL2  RLBP12  CLVS22  CLVS12  
    5 SIMAP similar genes for TTPA using alignment to 1 protein entry:     TTPA_HUMAN:
    CLVS1    CLVS2    RLBP1    DKFZp686E0870    TTPAL

    TTPA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTPA (see all 579)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359168401,2,,4
    FAtaxia with isolated vitamin E deficiency (AVED)4 --64075439(-) AGGAAC/TGGGTG 2 R W mis17Minor allele frequency- T:0.01MN NA 396
    rs289363691,2,4
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0078582 mis40--------
    VAR_0056684
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0056682 H Q mis40--------
    VAR_0223904
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0223902 E K mis40--------
    VAR_0223884
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0223882 R W mis40--------
    VAR_0223894
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0223892 A T mis40--------
    VAR_0223924
    Ataxia with isolated vitamin E deficiency (AVED)4--see VAR_0223922 G R mis40--------
    rs1219178501,2
    Cpathogenic164075525(-) AGTTCA/GTGGCA 2 H R mis10--------
    rs1219178511,2
    Cpathogenic164077287(-) TATTTC/TGAGTA 2 R * stg10--------
    rs1219178491,2
    Cpathogenic164084220(-) TACCAG/TGGAGT 2 Q H mis10--------

    HapMap Linkage Disequilibrium report for TTPA (63961112 - 63998612 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TTPA: --
    Human Gene Mutation Database (HGMD): TTPA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTPA
    DNA2.0 Custom Variant and Variant Library Synthesis for TTPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600415   
    OMIM disorders: 277460  
    UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638
  • Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]: An autosomal recessive disease
    characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration,
    ataxia, areflexia and proprioception loss. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for TTPA (see all 36):    About MalaCards
    ataxia with vitamin e deficiency    hereditary ataxia    abetalipoproteinemia    spinocerebellar ataxia type 8
    doid:4019    friedreich ataxia    apraxia    spinocerebellar degeneration
    distal hereditary motor neuropathy    ataxia    protein s deficiency    autosomal recessive disease
    cerebellar ataxia    retinal disease    retinitis pigmentosa    spinocerebellar ataxia
    peripheral neuropathy    albinism    retinitis    ataxia telangiectasia

    5 diseases from the University of Copenhagen DISEASES database for TTPA:
    Friedreich ataxia     Abetalipoproteinemia     Cerebellar ataxia     Apraxia
    DOID:4019

    TTPA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TTPA gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin e deficiency 96.6 56 10082886 (3), 15300460 (2), 18458655 (2), 20368946 (2) (see all 34)
    friedreich ataxia 78.3 8 10996881 (1), 9463307 (1), 12470185 (1), 17112370 (1) (see all 5)
    abetalipoproteinemia 71.7 2 10082886 (1)
    spinocerebellar ataxias 57.6 2 10082886 (1), 16491383 (1)
    retinitis pigmentosa 56.3 10 9189046 (2), 11754917 (2), 10727494 (2), 8965888 (1) (see all 5)
    protein deficiency 53.6 2 9645052 (1), 9931538 (1)
    neurodegenerative diseases 44.2 9 12470185 (1), 15300460 (1), 17628170 (1), 10082886 (1) (see all 5)
    apraxias 31.9 2 17112370 (1)
    neurodegeneration 29.1 2 14642382 (1), 17628171 (1)
    neurological disorders 29.1 3 15753133 (1), 20368946 (1), 16819822 (1)

    GeneTests: TTPA
    GeneReviews: TTPA
    Genetic Association Database (GAD): TTPA
    Human Genome Epidemiology (HuGE) Navigator: TTPA (55 documents)

    Export disorders for TTPA 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)
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    PubMed articles for TTPA gene, integrated from 10 sources (see all 132):
    (articles sorted by number of sources associating them with TTPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PubMed id 7887897)1, 2, 3, 9 Arita M.... Inoue K. (Biochem. J. 1995)
    2. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. (PubMed id 7719340)1, 2, 3, 9 Ouahchi K.... Koenig M. (Nat. Genet. 1995)
    3. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. (PubMed id 8602747)1, 2, 9 Hentati A.... Siddique T. (Ann. Neurol. 1996)
    4. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (PubMed id 7566022)1, 2, 9 Gotoda T.... Yamada N. (N. Engl. J. Med. 1995)
    5. The molecular basis of vitamin E retention: structure of human alpha- tocopherol transfer protein. (PubMed id 12899840)1, 2, 9 Meier R.... Stocker A. (J. Mol. Biol. 2003)
    6. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. (PubMed id 15300460)1, 2, 9 Mariotti C.... Di Donato S. (Neurol. Sci. 2004)
    7. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. (PubMed id 9463307)1, 2, 9 Cavalier L.... Koenig M. (Am. J. Hum. Genet. 1998)
    8. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PubMed id 19190344)1, 4, 9 Wright M.E....Albanes D. (Cancer Res. 2009)
    9. Molecular determinants of heritable vitamin E deficiency. (PubMed id 15065857)1, 2, 9 Morley S.... Manor D. (Biochemistry 2004)
    10. Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. (PubMed id 14657365)1, 2, 9 Min K.C.... Hendrickson W.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7274 HGNC: 12404 AceView: TTPA Ensembl:ENSG00000137561 euGenes: HUgn7274
    ECgene: TTPA H-InvDB: TTPA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TTPA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TTPA[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTPA gene:
    Search GeneIP for patents involving TTPA

    GeneCards and IP:
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