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 pr... See more...

Aliases for ALPI Gene

Aliases for ALPI Gene

  • Alkaline Phosphatase, Intestinal 2 3 5
  • Intestinal Alkaline Phosphatase 2 3 4
  • IAP 2 3 4
  • Intestinal-Type Alkaline Phosphatase 3 4
  • EC 3.1.3.1 4 51
  • Alkaline Phosphomonoesterase 3
  • Glycerophosphatase 3
  • Kasahara Isozyme 3
  • ALPI 5

External Ids for ALPI Gene

Previous GeneCards Identifiers for ALPI Gene

  • GC02P231377
  • GC02P232050
  • GC02P233284
  • GC02P233523
  • GC02P233146
  • GC02P233029
  • GC02P233320
  • GC02P225171

Summaries for ALPI Gene

Entrez Gene Summary for ALPI Gene

  • 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]

GeneCards Summary for ALPI Gene

ALPI (Alkaline Phosphatase, Intestinal) is a Protein Coding gene. Diseases associated with ALPI include Hypophosphatasia and Granulomatous Hepatitis. Among its related pathways are Metabolism of proteins and Thiamine metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and protease binding. An important paralog of this gene is ALPP.

Gene Wiki entry for ALPI Gene

Additional gene information for ALPI Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALPI Gene

Genomics for ALPI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALPI Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J232454 Promoter/Enhancer 0.6 EPDnew ENCODE 600.7 -0.3 -282 2.2 ATF2 ALPI ECEL1 DIS3L2P1 ALPG
GH02J232503 Enhancer 0.7 FANTOM5 1.5 +47.1 47136 0.4 ATF7 EZH2 EGR1 BRCA1 CREB1 STAT1 CREM VEZF1 ATF3 ATF2 PRSS56 TIGD1 ECEL1 ALPP ALPI GIGYF2 HSALNG0023039
GH02J232446 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 0.4 -8.5 -8510 2 HNRNPL POLR2A CTCF SP1 RAD21 FOXA2 ZNF444 YY1 GABPA JUND ECEL1 ALPI DIS3L2P1 ALPG
GH02J232443 Enhancer 0.9 Ensembl ENCODE 0.4 -11.9 -11854 1.1 HNRNPL CTCF RCOR2 ZNF143 ZIC2 SP1 SMARCA5 NFE2 ZNF444 ZNF316 ECEL1P2 DIS3L2P1 ALPI ALPG
GH02J232419 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 0.3 -35.2 -35187 1.9 EZH2 SCRT2 CTCF CTBP1 ZNF444 ZBTB26 CHD1 TFDP1 POLR2A ELF1 ECEL1P1 ENSG00000237087 ECEL1P2 ALPG ALPI
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALPI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALPI

Top Transcription factor binding sites by QIAGEN in the ALPI gene promoter:
  • AhR
  • Arnt
  • C/EBPalpha
  • Evi-1
  • GATA-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • NCX
  • Pax-5

Genomic Locations for ALPI Gene

Genomic Locations for ALPI Gene
chr2:232,456,125-232,460,753
(GRCh38/hg38)
Size:
4,629 bases
Orientation:
Plus strand
chr2:233,320,833-233,324,742
(GRCh37/hg19)
Size:
3,910 bases
Orientation:
Plus strand

Genomic View for ALPI Gene

Genes around ALPI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPI Gene

Proteins for ALPI Gene

  • Protein details for ALPI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09923-PPBI_HUMAN
    Recommended name:
    Intestinal-type alkaline phosphatase
    Protein Accession:
    P09923
    Secondary Accessions:
    • B2R7Y4
    • Q53S80
    • Q9UBV5
    • Q9UCL2

    Protein attributes for ALPI Gene

    Size:
    528 amino acids
    Molecular mass:
    56812 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • In most mammals there are four different isozymes: placental, germ cell, intestinal and tissue non-specific (liver/bone/kidney).

neXtProt entry for ALPI Gene

Selected DME Specific Peptides for ALPI Gene

P09923:
  • VPLSSETH
  • VTADHSHVF
  • GTPDPEYP
  • GVVTTTR
  • GGGRKYM
  • LMGLFEP
  • SAAARFNQCN
  • ETHGGEDVA
  • TATAYLCGVK
  • FARGPQAHL
  • TTRGNEV
  • VEGGRID
  • ALTEAVMFD
  • LAMDRFP
  • GLFEPGD
  • TVTATRILKGQ
  • NLVQEWL
  • LGPETPLAMD
  • LYGNGPGY

Post-translational modifications for ALPI Gene

  • Glycosylation at Asn141, Asn268, and Asn429
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PPBI_HUMAN (11)

Other Protein References for ALPI Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for ALPI Gene

Gene Families for ALPI Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ALPI Gene

InterPro:
Blocks:
  • Alkaline phosphatase
ProtoNet:

Suggested Antigen Peptide Sequences for ALPI Gene

GenScript: Design optimal peptide antigens:
  • Intestinal-type alkaline phosphatase (PPBI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09923

UniProtKB/Swiss-Prot:

PPBI_HUMAN :
  • Belongs to the alkaline phosphatase family.
Family:
  • Belongs to the alkaline phosphatase family.
genes like me logo Genes that share domains with ALPI: view

Function for ALPI Gene

Molecular function for ALPI Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10042};.
GENATLAS Biochemistry:
phosphatase alkaline,intestinal

Enzyme Numbers (IUBMB) for ALPI Gene

Phenotypes From GWAS Catalog for ALPI Gene

Gene Ontology (GO) - Molecular Function for ALPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0002020 protease binding IPI 18307834
GO:0003824 catalytic activity IEA --
GO:0004035 alkaline phosphatase activity IBA,NAS 2841341
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ALPI: view
genes like me logo Genes that share phenotypes with ALPI: view

Animal Models for ALPI Gene

MGI Knock Outs for ALPI:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPI

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALPI Gene

Localization for ALPI Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPI Gene

Cell membrane. Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALPI gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with ALPI: view

Pathways & Interactions for ALPI Gene

genes like me logo Genes that share pathways with ALPI: view

Pathways by source for ALPI Gene

1 GeneGo (Thomson Reuters) pathway for ALPI Gene
  • NAD metabolism

Gene Ontology (GO) - Biological Process for ALPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0007586 digestion TAS --
GO:0016311 dephosphorylation IBA,ISS --
genes like me logo Genes that share ontologies with ALPI: view

No data available for SIGNOR curated interactions for ALPI Gene

Drugs & Compounds for ALPI Gene

(24) Drugs for ALPI Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Monopotassium phosphate Approved, Investigational, Vet_approved Pharma Enzyme, cofactor 0
Sodium fluorophosphate Approved Pharma Pyruvate/alkaline phosphatase inhibitor 0
Isopropyl alcohol Approved, Investigational Pharma 0
Phosphoric acid Approved Pharma 0

(25) Additional Compounds for ALPI Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
dihydroneopterin triphosphate
  • 2-amino-4-Hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphate
  • 6-(L-erythro-1,2-Dihydroxy-3-triphosphooxypropyl)-7,8-dihydropterin
  • 6-(L-erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 2-amino-4-Hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphoric acid
20574-65-6
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(2) ApexBio Compounds for ALPI Gene

Compound Action Cas Number
(-)-p-Bromotetramisole Oxalate 62284-79-1
Sodium Monofluorophosphate Pyruvate/alkaline phosphatase inhibitor 10163-15-2
genes like me logo Genes that share compounds with ALPI: view

Drug Products

Transcripts for ALPI Gene

mRNA/cDNA for ALPI Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPI

Alternative Splicing Database (ASD) splice patterns (SP) for ALPI Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3:

Relevant External Links for ALPI Gene

GeneLoc Exon Structure for
ALPI

Expression for ALPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALPI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALPI Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x46.8) and Colon - Transverse (x4.7).

Protein differential expression in normal tissues from HIPED for ALPI Gene

This gene is overexpressed in Pancreatic juice (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALPI Gene



Protein tissue co-expression partners for ALPI Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALPI

SOURCE GeneReport for Unigene cluster for ALPI Gene:

Hs.37009

Evidence on tissue expression from TISSUES for ALPI Gene

  • Intestine(3)
  • Liver(2.7)
  • Blood(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ALPI: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPI Gene

Orthologs for ALPI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALPI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ALPI 30 31
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALPP 30
  • 84.71 (n)
-- 31
  • 77 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC100125266 30
  • 81.77 (n)
-- 31
  • 77 (a)
ManyToMany
-- 31
  • 77 (a)
ManyToMany
-- 31
  • 76 (a)
ManyToMany
-- 31
  • 75 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Akp3 30 17 31
  • 80.39 (n)
ManyToMany
Alppl2 31
  • 75 (a)
ManyToMany
Alpi 31
  • 72 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Akp3 30
  • 79.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ALPP 30
  • 71.05 (n)
-- 31
  • 67 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia alpi.1 30
  • 63.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii alpi.2 30
  • 62.15 (n)
alpi.1 31
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG10827 30 31 32
  • 54.77 (n)
ManyToMany
CG5656 31 32
  • 37 (a)
ManyToMany
CG1809 31 32
  • 37 (a)
ManyToMany
CG10592 31 32
  • 35 (a)
ManyToMany
CG5150 31 32
  • 35 (a)
ManyToMany
CG8105 31 32
  • 35 (a)
ManyToMany
CG8147 31
  • 34 (a)
ManyToMany
CG3264 31 32
  • 33 (a)
ManyToMany
Aph-4 31 32
  • 32 (a)
ManyToMany
CG3292 31 32
  • 32 (a)
ManyToMany
CG3290 31 32
  • 32 (a)
ManyToMany
CG16771 31 32
  • 27 (a)
ManyToMany
CG5361 31
  • 22 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011302 30
  • 54.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 31
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
CSA.180 31
  • 37 (a)
ManyToMany
CSA.4362 31
  • 37 (a)
ManyToMany
Species where no ortholog for ALPI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ALPI Gene

ENSEMBL:
Gene Tree for ALPI (if available)
TreeFam:
Gene Tree for ALPI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALPI: view image

Paralogs for ALPI Gene

Paralogs for ALPI Gene

(3) SIMAP similar genes for ALPI Gene using alignment to 2 proteins:

  • PPBI_HUMAN
  • F8WEQ0_HUMAN
genes like me logo Genes that share paralogs with ALPI: view

Variants for ALPI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALPI Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1047223 - p.His298Leu
rs7559279 - p.Arg144His

Additional dbSNP identifiers (rs#s) for ALPI Gene

Structural Variations from Database of Genomic Variants (DGV) for ALPI Gene

Variant ID Type Subtype PubMed ID
dgv160n111 CNV duplication 26073780
dgv494n27 CNV gain 19166990
dgv7336n54 CNV gain 21841781
nsv482060 CNV gain 20164927
nsv522450 CNV loss 19592680
nsv527789 CNV loss 19592680
nsv821918 CNV gain 20364138

Variation tolerance for ALPI Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 47.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALPI Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPI

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPI Gene

Disorders for ALPI Gene

MalaCards: The human disease database

(10) MalaCards diseases for ALPI Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatasia
  • phosphoethanolaminuria
granulomatous hepatitis
hypophosphatasia, childhood
  • childhood hypophosphatasia
waardenburg's syndrome
  • waardenburg syndrome, type 4a
pericholangitis
- elite association - COSMIC cancer census association via MalaCards
Search ALPI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALPI

genes like me logo Genes that share disorders with ALPI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALPI Gene

Publications for ALPI Gene

  1. Chemical nature of intestinal-type alkaline phosphatase in human kidney. (PMID: 1458595) Nishihara Y … Hirano K (Clinical chemistry 1992) 3 4 23
  2. Cloning and sequencing of human intestinal alkaline phosphatase cDNA. (PMID: 3468508) Berger J … Udenfriend S (Proceedings of the National Academy of Sciences of the United States of America 1987) 2 3 4
  3. Nucleotide and amino acid sequences of human intestinal alkaline phosphatase: close homology to placental alkaline phosphatase. (PMID: 3469665) Henthorn PS … Harris H (Proceedings of the National Academy of Sciences of the United States of America 1987) 2 3 4
  4. Cathepsin C propeptide interacts with intestinal alkaline phosphatase and heat shock cognate protein 70 in human Caco-2 cells. (PMID: 18307834) Hirasaka K … Nikawa T (The journal of physiological sciences : JPS 2008) 3 23
  5. Intestinal alkaline phosphatase is a gut mucosal defense factor maintained by enteral nutrition. (PMID: 18292227) Goldberg RF … Hodin RA (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 23

Products for ALPI Gene

Sources for ALPI Gene