ALPP alkaline phosphatase, placental [Homo sapiens] - Gene

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Summary

Official Symbol: ALPPprovided by HGNC
Official Full Name: alkaline phosphatase, placentalprovided by HGNC
Primary source: HGNC:439
See related: Ensembl:ENSG00000163283; MIM:171800; Vega:OTTHUMG00000133255
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; PALP; PLAP; FLJ61142
Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 2q37

Sequence :: Chromosome: 2; NC_000002.11 (233243348..233247599)

See ALPP in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

PLAP exerts a positive effect on DNA replication and acts as a proliferative factor in trophoblastic cells.
Title: Genome wide expression profile in human HTR-8/Svneo trophoblastic cells in response to overexpression of placental alkaline phosphatase gene.
The proximity of undifferentiated gonadal tissue with the tumors as well as the immunostaining patterns (PLAP+, OCT3/4+, and CD117/KIT+) suggests that germ cells found in them are a risk factor for gonadal tumors.
Title: Undifferentiated gonadal tissue, Y chromosome instability, and tumors in XY gonadal dysgenesis.
the catalytic mechanism of human placental alkaline phosphatase
Title: Computational modeling of the catalytic mechanism of human placental alkaline phosphatase (PLAP).
Data show that serum alkaline phosphatase, Gleason score, and intensity of bone metastasis are important and statistically significant prognostic factors, and affects time to progression and life time.
Title: Prognostic factors in metastatic prostate cancer.
at a certain time point during adrenocortical development, some fetal zone cells survive owing to defective apoptosis and develop into childhood ACT, maintaining some characteristics of the embryonal period, such as PLAP expression
Title: Placental alkaline phosphatase in pediatric adrenocortical cancer.
Serum total calcium (r -0.1362, p<0.001), serum inorganic phosphate (r -0.45, p<0.001) and serum alkaline phosphatase (r -0.5587, p<0.001) have shown inverse relationship with age.
Title: Reference intervals of serum calcium, ionized calcium, phosphate and alkaline phosphatase in healthy Indian school children and adolescents.
High serum alkaline phosphatase is associated with chronic kidney disease.
Title: Outcome predictability of serum alkaline phosphatase in men with pre-dialysis CKD.
differential expression of Pl(1) and Pl(2) probably results from linkage disequilibrium with the sequence variation rs2014683G>A in the ALPP gene promoter that was shown to have allele-specific binding patterns to placental nuclear proteins.
Title: A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta.
structure of placental alkaline phosphatase with pNPP contained only p-nitrophenol in three distinct sites, while the structure with 5'-AMP contained the p-nitrophenyl group in two of the sites instead of 5'-AMP
Title: Refined structures of placental alkaline phosphatase show a consistent pattern of interactions at the peripheral site.
Low magnitudes of tensile strain enhance expression of alkaline phosphatase in human osteoblasts.
Title: [Human osteoblasts response to different magnitudes of mechanical stimulation in vitro].

Submit: New GeneRIF Correction See all (24)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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

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HIV-1 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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
Alkaline phosphatase, placental	P05187	ALPP	HPRD	PubMed
Alkaline phosphatase, placental	P80108	GPLD1	HPRD	PubMed
Alkaline phosphatase, placental	Q92643	PIGK	HPRD	PubMed
P05187	Alkaline phosphatase, placental	ALPP	HPRD	PubMed
P05187	P05187	ALPP	HPRD	PubMed
BioGRID:106751	BioGRID:122516	ASPSCR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:198534	Cbx1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:230419	Cep76	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:199505	Erh	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:116298	FAF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:116806	FAF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:121014	NSFL1C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:115343	PIGK	BioGRID	PubMed	Reconstituted Complex
BioGRID:106751	BioGRID:214351	Trim69	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:119239	UBXN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:124844	UBXN11	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:123263	UBXN6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106751	BioGRID:117507	UBXN7	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
alkaline phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
alkaline phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
anchored to membrane	IEA Inferred from Electronic Annotation more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: alkaline phosphatase, placental type

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

NP_001623.3

EC 3.1.3.1

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_012189.1 RefSeqGene

Range

5001..9252

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001632.3 → NP_001623.3 alkaline phosphatase, placental type preproprotein

Status: REVIEWED

Source sequence(s)

AF217992, BC009647, BC094743, DA851165

Consensus CDS

CCDS2490.1

UniProtKB/Swiss-Prot

P05187

Related

ENSP00000375881, OTTHUMP00000164354, ENST00000392027, OTTHUMT00000257032

Conserved Domains (2) summary

cd00016
Location:50 – 490
Blast Score: 1184

alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...

smart00098
Location:56 – 491
Blast Score: 1621

alkPPc; Alkaline phosphatase homologues

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

233243348..233247599

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

225094117..225098368

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068134.5	AAY24087.1
genomic	CH471063.1	EAW70991.1
genomic	HC006778.1	CBH19195.1
genomic	M19159.1	AAA51710.1
genomic	M19161.1	AAA51705.1
mRNA	AF217992.1	None
mRNA	AK075432.1	None
mRNA	AK312931.1	BAG35774.1
mRNA	BC009647.1	AAH09647.1
mRNA	BC068501.1	AAH68501.1
mRNA	BC094743.1	AAH94743.1
mRNA	DA851165.1	None
mRNA	M12551.1	AAA51706.1
mRNA	M13077.1	AAC97139.1
mRNA	M14169.1	AAA51708.1
mRNA	M14170.1	AAA51709.1