ALPI alkaline phosphatase, intestinal [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALPIprovided by HGNC
Official Full Name: alkaline phosphatase, intestinalprovided by HGNC
Primary source: HGNC:HGNC:437
See related: Ensembl:ENSG00000163295 MIM:171740; AllianceGenome:HGNC:437
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IAP
Summary: 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]
Expression: Biased expression in duodenum (RPKM 85.5), small intestine (RPKM 83.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232456153..232460753)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (232942959..232947559)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233320863..233325463)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of Surgery on Postoperative Levels of the Gut Homeostasis-Regulating Enzyme Intestinal Alkaline Phosphatase.
Title: Effect of Surgery on Postoperative Levels of the Gut Homeostasis-Regulating Enzyme Intestinal Alkaline Phosphatase.
The role of intestinal alkaline phosphatase in the development of necrotizing enterocolitis.
Title: The role of intestinal alkaline phosphatase in the development of necrotizing enterocolitis.
Characterization and Structure of Alternatively Spliced Transcript Variant of Human Intestinal Alkaline Phosphatase (ALPI) Gene.
Title: Characterization and Structure of Alternatively Spliced Transcript Variant of Human Intestinal Alkaline Phosphatase (ALPI) Gene.
Intestinal Alkaline Phosphatase Prevents Sulfate Reducing Bacteria-Induced Increased Tight Junction Permeability by Inhibiting Snail Pathway.
Title: Intestinal Alkaline Phosphatase Prevents Sulfate Reducing Bacteria-Induced Increased Tight Junction Permeability by Inhibiting Snail Pathway.
Intestinal alkaline phosphatase deficiency increases the risk of diabetes.
Title: Intestinal alkaline phosphatase deficiency increases the risk of diabetes.
Role of Intestinal Alkaline Phosphatase in Innate Immunity.
Title: Role of Intestinal Alkaline Phosphatase in Innate Immunity.
A role for intestinal alkaline phosphatase in preventing liver fibrosis.
Title: A role for intestinal alkaline phosphatase in preventing liver fibrosis.
Study establishes that IAP deficiency in stool is associated with ischemic heart disease (IHD), and a high level of IAP might play a protective role against IHD.
Title: Intestinal Alkaline Phosphatase Deficiency Is Associated with Ischemic Heart Disease.
Data confirm that, in enterocytes (Caco-2 cells), 1-alpha,25-dihydroxy-vitamin-D3 up-regulates expression of 2 isoforms of IAP, alternative splicing variants.
Title: 1-alpha,25-Dihydroxyvitamin D(3) up-regulates the expression of 2 types of human intestinal alkaline phosphatase alternative splicing variants in Caco-2 cells and may be an important regulator of their expression in gut homeostasis.
Expressions of human intestinal alkaline phosphatase and sucrase-isomaltase, which are intestinal differentiation markers, were highly enhanced in Caco-2 cells by menaquinone-4.
Title: Menaquinone-4 (vitamin K(2)) up-regulates expression of human intestinal alkaline phosphatase in Caco-2 cells.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cells exposed in vitro to HIV-1 gp120 show a defect in inositol polyphosphate-mediated signal transduction resulting from the downregulation of inositol (1,3,4,5)P4 5-phosphomonoesterase (PME) by gp120	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:181233 (e-PCR)
- UniSTS:155201

GDB:180439 (e-PCR)
- UniSTS:155103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alkaline phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkaline phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables alkaline phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: intestinal-type alkaline phosphatase

Names: Kasahara isozyme; alkaline phosphomonoesterase; glycerophosphatase; intestinal alkaline phosphatase

NP_001622.2

EC 3.1.3.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.