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

Gene ID: 250, updated on 2-Nov-2024

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
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Genomic context

See ALPP in Genome Data Viewer
Location:
2q37.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232378751..232382889)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232865486..232869624)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233243461..233247599)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DIS3 like 3'-5' exoribonuclease 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233207551-233208060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233230050-233230646 Neighboring gene uncharacterized LOC124906123 Neighboring gene NRBF2 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr2:233239812-233240379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233243260-233244227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233245487-233246037 Neighboring gene endothelin converting enzyme like 1 pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:233271618-233272817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233273180-233273680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233273681-233274181 Neighboring gene endothelin converting enzyme like 1 pseudogene 2 Neighboring gene alkaline phosphatase, germ cell

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ61142

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
 
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

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

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.

Genomic

  1. NG_012189.1 RefSeqGene

    Range
    5114..9252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001632.5NP_001623.3  alkaline phosphatase, placental type preproprotein

    See identical proteins and their annotated locations for NP_001623.3

    Status: REVIEWED

    Source sequence(s)
    AF217992, BC009647, BC094743
    Consensus CDS
    CCDS2490.1
    UniProtKB/Swiss-Prot
    P05187, P05188, P06861, Q53S78, Q96DB7
    UniProtKB/TrEMBL
    B2R7C7
    Related
    ENSP00000375881.2, ENST00000392027.3
    Conserved Domains (2) summary
    PRK10518
    Location:28478
    PRK10518; alkaline phosphatase; Provisional
    pfam00245
    Location:55490
    Alk_phosphatase; Alkaline phosphatase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    232378751..232382889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    232865486..232869624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)