Description: Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. RefSeq Summary (NM_145640): This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. Transcript (Including UTRs) Position: hg19 chr22:36,536,371-36,556,977 Size: 20,607 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr22:36,537,248-36,556,939 Size: 19,692 Coding Exon Count: 3
ID:APOL3_HUMAN DESCRIPTION: RecName: Full=Apolipoprotein L3; AltName: Full=Apolipoprotein L-III; Short=ApoL-III; AltName: Full=TNF-inducible protein CG12-1; Short=CG12_1; FUNCTION: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. SUBCELLULAR LOCATION: Cytoplasm (Probable). TISSUE SPECIFICITY: Widely expressed; the highest levels are in prostate, lung and placenta; also detected in kidney, bone marrow, spleen, thymus, spinal cord, adrenal gland, salivary gland, trachea and mammary gland; levels are low in brain, heart, fetal liver, pancreas and testis. INDUCTION: In vitro, is responsive to TNF. SIMILARITY: Belongs to the apolipoprotein L family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): APOL3 CDC HuGE Published Literature: APOL3 Positive Disease Associations: Hip Related Studies:
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
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 O95236
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary