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

Gene ID: 7274, updated on 3-Jun-2018
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]
Expression
Biased expression in liver (RPKM 30.1) and colon (RPKM 1.4) See more
Orthologs
See TTPA in Genome Data Viewer
Location:
8q12.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (63059488..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
intermembrane lipid transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermembrane lipid transfer activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
vitamin E binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lipid transfer 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
 
vitamin E metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin E metabolic process TAS
Traceable Author Statement
more info
 
vitamin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    ENSP00000260116.4, OTTHUMP00000226543, ENST00000260116.4, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    63059488..63086523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716468.4XP_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 ...
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