Human Gene APIP (uc001mvs.2) Description and Page Index
Description: Homo sapiens APAF1 interacting protein (APIP), mRNA. RefSeq Summary (NM_015957): APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.129302.1, SRR5189667.244568.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000395787.4/ ENSP00000379133.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr11:34,903,843-34,937,939 Size: 34,097 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr11:34,904,264-34,937,831 Size: 33,568 Coding Exon Count: 7
ID:MTNB_HUMAN DESCRIPTION: RecName: Full=Probable methylthioribulose-1-phosphate dehydratase; Short=MTRu-1-P dehydratase; EC=188.8.131.52; AltName: Full=APAF1-interacting protein; FUNCTION: Catalyzes the dehydration of methylthioribulose-1- phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1- phosphate (DK-MTP-1-P). Has an anti-apoptotic function and prevents muscle ischemic damage. Inhibits the cytochrome c- dependent and APAF1-mediated cell death (By similarity). CATALYTIC ACTIVITY: S-methyl-5-thio-D-ribulose 1-phosphate = 5- (methylthio)-2,3-dioxopentyl phosphate + H(2)O. COFACTOR: Binds 1 zinc ion per subunit (By similarity). PATHWAY: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 2/6. SUBUNIT: Interacts with APAF1. INTERACTION: Self; NbExp=4; IntAct=EBI-359248, EBI-359248; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-359248, EBI-740486; SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Ubiquitously expressed with high expression in skeletal muscle, heart and kidney. SIMILARITY: Belongs to the aldolase class II family. MtnB subfamily.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): APIP CDC HuGE Published Literature: APIP Positive Disease Associations: Blood Pressure Related Studies:
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
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 Q96GX9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.