Human Gene SEC14L2 (uc003ahr.3) Description and Page Index
Description: Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA. RefSeq Summary (NM_012429): This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chr22:30,792,930-30,821,291 Size: 28,362 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr22:30,793,106-30,818,396 Size: 25,291 Coding Exon Count: 12
ID:S14L2_HUMAN DESCRIPTION: RecName: Full=SEC14-like protein 2; AltName: Full=Alpha-tocopherol-associated protein; Short=TAP; Short=hTAP; AltName: Full=Squalene transfer protein; AltName: Full=Supernatant protein factor; Short=SPF; FUNCTION: Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell. SUBUNIT: Monomer (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha- tocopherol. TISSUE SPECIFICITY: Widely expressed. Strong expression in liver, brain and prostate. DEVELOPMENTAL STAGE: Low expression in fetal tissues. SIMILARITY: Contains 1 CRAL-TRIO domain. SIMILARITY: Contains 1 GOLD domain. SEQUENCE CAUTION: Sequence=BAA86500.2; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O76054
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.