Human Gene ALPI (uc002vst.4)
  Description: Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.
RefSeq Summary (NM_001631): There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr2:233,320,833-233,324,742 Size: 3,910 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr2:233,320,910-233,323,856 Size: 2,947 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:233,320,833-233,324,742)mRNA (may differ from genome)Protein (528 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPBI_HUMAN
DESCRIPTION: RecName: Full=Intestinal-type alkaline phosphatase; Short=IAP; Short=Intestinal alkaline phosphatase; EC=3.1.3.1; Flags: Precursor;
CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = an alcohol + phosphate.
COFACTOR: Binds 1 magnesium ion (By similarity).
COFACTOR: Binds 2 zinc ions (By similarity).
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
MISCELLANEOUS: In most mammals there are four different isozymes: placental, placental-like, intestinal and tissue non-specific (liver/bone/kidney).
SIMILARITY: Belongs to the alkaline phosphatase family.
WEB RESOURCE: Name=Wikipedia; Note=Alkaline phosphatase entry; URL="http://en.wikipedia.org/wiki/Alkaline_phosphatase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ALPI
CDC HuGE Published Literature: ALPI
Positive Disease Associations: Waist-Hip Ratio
Related Studies:
  1. Waist-Hip Ratio
    , , . [PubMed 0]
  2. Waist-Hip Ratio
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: ALPI
Diseases sorted by gene-association score: waardenburg's syndrome (3), testis seminoma (1)

-  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: 52.57 RPKM in Small Intestine - Terminal Ileum
Total median expression: 55.39 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0077-0.247 Picture PostScript Text
3' UTR -329.23886-0.372 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
IPR017849 - Alkaline_Pase-like_a/b/a
IPR001952 - Alkaline_phosphatase
IPR018299 - Alkaline_phosphatase_AS
IPR017850 - Alkaline_phosphatase_core

Pfam Domains:
PF00245 - Alkaline phosphatase

SCOP Domains:
53649 - Alkaline phosphatase-like

ModBase Predicted Comparative 3D Structure on P09923
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 BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0002020 protease binding
GO:0003824 catalytic activity
GO:0004035 alkaline phosphatase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006654 phosphatidic acid biosynthetic process
GO:0007586 digestion
GO:0008152 metabolic process
GO:0016311 dephosphorylation

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK313163 - Homo sapiens cDNA, FLJ93658, highly similar to Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.
JD226376 - Sequence 207400 from Patent EP1572962.
BC132678 - Homo sapiens alkaline phosphatase, intestinal, mRNA (cDNA clone MGC:164309 IMAGE:40146700), complete cds.
AH002601 - Homo sapiens intestinal alkaline phosphatase precursor (ALPI) mRNA, complete cds.
KJ890664 - Synthetic construct Homo sapiens clone ccsbBroadEn_00058 ALPI gene, encodes complete protein.
E08258 - cDNA encoding human intestinal alkaline phosphatase.
M15694 - Human adult intestinal phosphatase type, complete cds.
JD143234 - Sequence 124258 from Patent EP1572962.
JD366919 - Sequence 347943 from Patent EP1572962.
JD443471 - Sequence 424495 from Patent EP1572962.
JD163374 - Sequence 144398 from Patent EP1572962.
JD106280 - Sequence 87304 from Patent EP1572962.
JD331433 - Sequence 312457 from Patent EP1572962.
JD373030 - Sequence 354054 from Patent EP1572962.
JD277063 - Sequence 258087 from Patent EP1572962.
JD118134 - Sequence 99158 from Patent EP1572962.
JD397663 - Sequence 378687 from Patent EP1572962.
JD382151 - Sequence 363175 from Patent EP1572962.
JD115672 - Sequence 96696 from Patent EP1572962.
JD054590 - Sequence 35614 from Patent EP1572962.
JD361300 - Sequence 342324 from Patent EP1572962.
JD099676 - Sequence 80700 from Patent EP1572962.
JD050589 - Sequence 31613 from Patent EP1572962.
JD098733 - Sequence 79757 from Patent EP1572962.
JD251223 - Sequence 232247 from Patent EP1572962.
JD048688 - Sequence 29712 from Patent EP1572962.
JD339922 - Sequence 320946 from Patent EP1572962.
JD318374 - Sequence 299398 from Patent EP1572962.
JD320819 - Sequence 301843 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00790 - Folate biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P09923 (Reactome details) participates in the following event(s):

R-HSA-8878787 ALPI dimer hydrolyses phosphate monoesters
R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-1483166 Synthesis of PA
R-HSA-8935690 Digestion
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-8963743 Digestion and absorption
R-HSA-597592 Post-translational protein modification
R-HSA-1483257 Phospholipid metabolism
R-HSA-392499 Metabolism of proteins
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7Y4, NM_001631, NP_001622, P09923, PPBI_HUMAN, Q53S80, Q9UBV5, Q9UCL2
UCSC ID: uc002vst.4
RefSeq Accession: NM_001631
Protein: P09923 (aka PPBI_HUMAN)
CCDS: CCDS2492.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001631.3
exon count: 11CDS single in 3' UTR: no RNA size: 2559
ORF size: 1587CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3266.00frame shift in genome: no % Coverage: 99.65
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: 0# 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.