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    TTPA alpha tocopherol transfer protein [ Homo sapiens (human) ]

    Gene ID: 7274, updated on 12-Mar-2017
    Official Symbol
    TTPAprovided by HGNC
    Official Full Name
    alpha tocopherol transfer proteinprovided by HGNC
    Primary source
    HGNC:HGNC:12404
    See related
    Ensembl:ENSG00000137561 MIM:600415; Vega:OTTHUMG00000164367
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATTP; AVED; TTP1; alphaTTP
    Summary
    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]
    Orthologs
    Location:
    8q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (63058409..63086523, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (63972047..63998612, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986946 Neighboring gene gamma-glutamyl hydrolase Neighboring gene TAR DNA-binding protein 43-like Neighboring gene YTHDF3 antisense RNA 1 (head to head)

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin E binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    intermembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of establishment of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    vitamin E metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alpha-tocopherol transfer protein
    Names
    alpha-TTP
    tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016123.1 RefSeqGene

      Range
      5001..31566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000370.3NP_000361.1  alpha-tocopherol transfer protein

      See identical proteins and their annotated locations for NP_000361.1

      Status: REVIEWED

      Source sequence(s)
      AC120042, BC041784, BC058000
      Consensus CDS
      CCDS6178.1
      UniProtKB/Swiss-Prot
      P49638
      Related
      ENSP00000260116, OTTHUMP00000226543, ENST00000260116, OTTHUMT00000378460
      Conserved Domains (2) summary
      smart01100
      Location:4073
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:99248
      CRAL_TRIO; CRAL/TRIO domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      63058409..63086523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716468.3XP_006716531.1  alpha-tocopherol transfer protein isoform X1

      Conserved Domains (2) summary
      smart01100
      Location:4067
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cl15787
      Location:69132
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      64025060..64051623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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