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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:34,903,843-34,937,939)mRNA (may differ from genome)Protein (242 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MTNB_HUMAN
DESCRIPTION: RecName: Full=Probable methylthioribulose-1-phosphate dehydratase; Short=MTRu-1-P dehydratase; EC=4.2.1.109; 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:
  1. 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. [PubMed 17903302]
    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.

-  MalaCards Disease Associations
  MalaCards Gene Search: APIP
Diseases sorted by gene-association score: chromosome 17q11.2 deletion syndrome, 1.4-mb (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.18 RPKM in Adrenal Gland
Total median expression: 170.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.70108-0.451 Picture PostScript Text
3' UTR -71.52421-0.170 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001303 - Aldolase_II/adducin_N
IPR017714 - MethylthioRu-1-P_deHdtase_MtnB

Pfam Domains:
PF00596 - Class II Aldolase and Adducin N-terminal domain

SCOP Domains:
53639 - AraD-like aldolase/epimerase

ModBase Predicted Comparative 3D Structure on Q96GX9
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016829 lyase activity
GO:0042802 identical protein binding
GO:0046570 methylthioribulose 1-phosphate dehydratase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0008652 cellular amino acid biosynthetic process
GO:0009086 methionine biosynthetic process
GO:0019509 L-methionine biosynthetic process from methylthioadenosine
GO:0043066 negative regulation of apoptotic process
GO:0051289 protein homotetramerization
GO:0070269 pyroptosis
GO:0070372 regulation of ERK1 and ERK2 cascade

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK226157 - Homo sapiens mRNA for CGI-29 protein variant, clone: sj05248.
AK302225 - Homo sapiens cDNA FLJ58961 complete cds, highly similar to APAF1-interacting protein.
AF088034 - Homo sapiens full length insert cDNA clone ZC24F03.
AF132963 - Homo sapiens CGI-29 protein mRNA, complete cds.
BC017594 - Homo sapiens APAF1 interacting protein, mRNA (cDNA clone MGC:714 IMAGE:2988353), complete cds.
AK225249 - Homo sapiens mRNA for CGI-29 protein variant, clone: DMC01645.
BC009077 - Homo sapiens APAF1 interacting protein, mRNA (cDNA clone MGC:9397 IMAGE:3875061), complete cds.
BC008440 - Homo sapiens APAF1 interacting protein, mRNA (cDNA clone MGC:14646 IMAGE:4096399), complete cds.
JD349681 - Sequence 330705 from Patent EP1572962.
AK292648 - Homo sapiens cDNA FLJ77906 complete cds, highly similar to Homo sapiens APAF1 interacting protein, mRNA.
KJ904411 - Synthetic construct Homo sapiens clone ccsbBroadEn_13805 hypothetical protein, encodes complete protein.
KJ906150 - Synthetic construct Homo sapiens clone ccsbBroadEn_15820 APIP gene, encodes complete protein.
HQ448158 - Synthetic construct Homo sapiens clone IMAGE:100071545; CCSB005863_01 APAF1 interacting protein (APIP) gene, encodes complete protein.
KJ893799 - Synthetic construct Homo sapiens clone ccsbBroadEn_03193 APIP gene, encodes complete protein.
KJ898817 - Synthetic construct Homo sapiens clone ccsbBroadEn_08211 APIP gene, encodes complete protein.
CU678963 - Synthetic construct Homo sapiens gateway clone IMAGE:100017617 5' read APIP mRNA.
AB590513 - Synthetic construct DNA, clone: pFN21AE1736, Homo sapiens APIP gene for APAF1 interacting protein, without stop codon, in Flexi system.
AF131812 - Homo sapiens clone 25156 mRNA sequence.
JD023363 - Sequence 4387 from Patent EP1572962.
JD034602 - Sequence 15626 from Patent EP1572962.
JD024437 - Sequence 5461 from Patent EP1572962.
JD029340 - Sequence 10364 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00270 - Cysteine and methionine metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q96GX9 (Reactome details) participates in the following event(s):

R-HSA-1237140 Dehydration of methylthio-ribulose-P
R-HSA-1237112 Methionine salvage pathway
R-HSA-351202 Metabolism of polyamines
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9D3, CGI-29, MTNB_HUMAN, NM_015957, NP_057041, Q6PJX6, Q8WVU2, Q96GX9, Q96HK2, Q9Y318
UCSC ID: uc001mvs.2
RefSeq Accession: NM_015957
Protein: Q96GX9 (aka MTNB_HUMAN)
CCDS: CCDS7895.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015957.2
exon count: 7CDS single in 3' UTR: no RNA size: 1266
ORF size: 729CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1490.00frame shift in genome: no % Coverage: 99.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 380# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.