ALPP alkaline phosphatase, placental [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALPPprovided by HGNC
Official Full Name: alkaline phosphatase, placentalprovided by HGNC
Primary source: HGNC:HGNC:439
See related: Ensembl:ENSG00000163283 MIM:171800; AllianceGenome:HGNC:439
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: ALP; IAP; ALPI; PALP; PLAP; PLAP-1
Summary: The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression: Restricted expression toward placenta (RPKM 36.6) See more
Orthologs: 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 (232378751..232382889)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (232865486..232869624)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233243461..233247599)

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?

Role of serum alkaline phosphatase as a potential biomarker of severity and prognosis in intracerebral hemorrhage.
Title: Role of serum alkaline phosphatase as a potential biomarker of severity and prognosis in intracerebral hemorrhage.
Alkaline Phosphatase is an Independent Risk Factor for Periprosthetic Fractures in Total Joint Arthroplasty.
Title: Alkaline Phosphatase is an Independent Risk Factor for Periprosthetic Fractures in Total Joint Arthroplasty.
Cross-sectional analysis: clinical presentation of children with persistently low ALP levels.
Title: Cross-sectional analysis: clinical presentation of children with persistently low ALP levels.
Pattern of placental alkaline phosphatase (PLAP) expression in human tumors: a tissue microarray study on 12,381 tumors.
Title: Pattern of placental alkaline phosphatase (PLAP) expression in human tumors: a tissue microarray study on 12,381 tumors.
Development and Characterization of Alkaline Phosphatase-Positive Human Umbilical Cord Perivascular Cells.
Title: Development and Characterization of Alkaline Phosphatase-Positive Human Umbilical Cord Perivascular Cells.
Extremely high levels of alkaline phosphatase and pregnancy outcome: case series and review of the literature.
Title: Extremely high levels of alkaline phosphatase and pregnancy outcome: case series and review of the literature.
Placental Alkaline Phosphatase Promotes Zika Virus Replication by Stabilizing Viral Proteins through BIP.
Title: Placental Alkaline Phosphatase Promotes Zika Virus Replication by Stabilizing Viral Proteins through BIP.
PLAP -CAR T cells mediate high specific cytotoxicity against colon cancer cells.
Title: PLAP -CAR T cells mediate high specific cytotoxicity against colon cancer cells.
Diagnostic Capability of Cerebrospinal Fluid-Placental Alkaline Phosphatase Value in Intracranial Germ Cell Tumor.
Title: Diagnostic Capability of Cerebrospinal Fluid-Placental Alkaline Phosphatase Value in Intracranial Germ Cell Tumor.
Osteogenic cocktail induces calcifications in human breast cancer cell line via placental alkaline phosphatase expression.
Title: Osteogenic cocktail induces calcifications in human breast cancer cell line via placental alkaline phosphatase expression.

Submit: New GeneRIF Correction See all GeneRIFs (46)

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

EBI GWAS Catalog

Description
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with alkaline phosphatase, placental (ALPP; PLAP) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ALPP_38 (e-PCR)
- UniSTS:276993

GDB:216786 (e-PCR)
- UniSTS:156214

GDB:181234 (e-PCR)
- UniSTS:155202

A002R47 (e-PCR)
- UniSTS:27519

GDB:176648 (e-PCR)
- UniSTS:154814

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	IDA Inferred from Direct Assay more info	PubMed
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 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

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
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 side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alkaline phosphatase, placental type

Names: Intestinal alkaline phosphatase; Intestinal-type alkaline phosphatase; alkaline phosphatase Regan isozyme; alkaline phosphomonoesterase; glycerophosphatase; placental alkaline phosphatase 1

NP_001623.3

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.