U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 7274, updated on 17-Mar-2024

    Summary

    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; AllianceGenome:HGNC:12404
    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]
    Expression
    Biased expression in liver (RPKM 30.1) and colon (RPKM 1.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TTPA in Genome Data Viewer
    Location:
    8q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (63058409..63086053, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (63482981..63510623, complement)
    105.20220307 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 NANOG hESC enhancer GRCh37_chr8:63922378-63923010 Neighboring gene gamma-glutamyl hydrolase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19240 Neighboring gene TARDBP pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:64059469-64059969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27450 Neighboring gene YTHDF3 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables vitamin E binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables vitamin E binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermembrane lipid transfer ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of establishment of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of amyloid-beta clearance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vitamin E metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vitamin transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vitamin transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    alpha-tocopherol transfer protein
    Names
    alpha-TTP
    tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 isoform 1

      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, Q71V64
      Related
      ENSP00000260116.4, ENST00000260116.5
      Conserved Domains (2) summary
      smart01100
      Location:4073
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:99248
      CRAL_TRIO; CRAL/TRIO domain
    2. NM_001413414.1NP_001400343.1  alpha-tocopherol transfer protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC120042
    3. NM_001413415.1NP_001400344.1  alpha-tocopherol transfer protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC120042
    4. NM_001413416.1NP_001400345.1  alpha-tocopherol transfer protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC120042
    5. NM_001413417.1NP_001400346.1  alpha-tocopherol transfer protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC120042
    6. NM_001413418.1NP_001400347.1  alpha-tocopherol transfer protein isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC120042

    RNA

    1. NR_182149.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC120042
    2. NR_182150.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC120042
    3. NR_182151.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC120042

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      63058409..63086053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      63482981..63510623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)