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ALPL alkaline phosphatase, biomineralization associated [ Homo sapiens (human) ]

Gene ID: 249, updated on 8-Jul-2021

Summary

Official Symbol
ALPLprovided by HGNC
Official Full Name
alkaline phosphatase, biomineralization associatedprovided by HGNC
Primary source
HGNC:HGNC:438
See related
Ensembl:ENSG00000162551 MIM:171760
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
HOPS; HPPA; HPPC; HPPI; HPPO; TNAP; TNALP; APTNAP; TNSALP; AP-TNAP
Summary
This gene encodes a member of the alkaline phosphatase family of proteins. 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 that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
Expression
Broad expression in kidney (RPKM 33.8), lung (RPKM 30.4) and 14 other tissues See more
Orthologs
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Genomic context

See ALPL in Genome Data Viewer
Location:
1p36.12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (21508984..21578412)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21835477..21904903)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CROCC pseudogene 5 Neighboring gene NBPF member 3 Neighboring gene profilin 1 pseudogene 10 Neighboring gene long intergenic non-protein coding RNA 2596 Neighboring gene RAP1 GTPase activating protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Adult hypophosphatasia
MedGen: C0268413 OMIM: 146300 GeneReviews: Hypophosphatasia
Compare labs
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Childhood hypophosphatasia
MedGen: C0220743 OMIM: 241510 GeneReviews: Hypophosphatasia
Compare labs
Common genetic variants associate with serum phosphorus concentration.
GeneReviews: Not available
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
GeneReviews: Not available
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Hypophosphatasia
MedGen: C0020630 GeneReviews: Hypophosphatasia
Compare labs
Infantile hypophosphatasia
MedGen: C0268412 OMIM: 241500 GeneReviews: Hypophosphatasia
Compare labs
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env In human osteoblast (hOB) cell lines, HIV-1 Gag and gp120 downregulate calcium deposition and alkaline phosphatase activity PubMed
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
Pr55(Gag) gag In human osteoblast (hOB) cell lines, HIV-1 Gag and gp120 downregulate calcium deposition and alkaline phosphatase activity PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40094, FLJ93059, MGC161443, MGC167935

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alkaline phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphoamidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
 
enables pyrophosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in cementum mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in developmental process involved in reproduction IEA
Inferred from Electronic Annotation
more info
 
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation HDA PubMed 
involved_in response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to vitamin D IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
is_active_in mitochondrial intermembrane space ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in mitochondrial membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
alkaline phosphatase, tissue-nonspecific isozyme
Names
alkaline phosphatase liver/bone/kidney isozyme
alkaline phosphatase, liver/bone/kidney
liver/bone/kidney-type alkaline phosphatase
tissue non-specific alkaline phosphatase
tissue-nonspecific ALP
NP_000469.3
NP_001120973.2
NP_001170991.1
NP_001356732.1
NP_001356733.1
NP_001356734.1
XP_016856392.1

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.

Genomic

  1. NG_008940.1 RefSeqGene

    Range
    4994..74048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000478.6NP_000469.3  alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000469.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL359815, AL592309
    Consensus CDS
    CCDS217.1
    UniProtKB/Swiss-Prot
    P05186
    UniProtKB/TrEMBL
    A0A024RAG0
    Related
    ENSP00000363973.3, ENST00000374840.8
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase
  2. NM_001127501.4NP_001120973.2  alkaline phosphatase, tissue-nonspecific isozyme isoform 2

    See identical proteins and their annotated locations for NP_001120973.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) lacks a predicted signal peptide and is shorter compared to isoform 1.
    Source sequence(s)
    AL359815, AL592309
    Consensus CDS
    CCDS53275.1
    UniProtKB/Swiss-Prot
    P05186
    Related
    ENSP00000442672.1, ENST00000540617.5
    Conserved Domains (1) summary
    pfam00245
    Location:1435
    Alk_phosphatase; Alkaline phosphatase
  3. NM_001177520.3NP_001170991.1  alkaline phosphatase, tissue-nonspecific isozyme isoform 3

    See identical proteins and their annotated locations for NP_001170991.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks an exon in the 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus, lacks a predicted signal peptide, and is shorter compared to isoform 1.
    Source sequence(s)
    AL359815, AL592309
    Consensus CDS
    CCDS53274.1
    UniProtKB/Swiss-Prot
    P05186
    Related
    ENSP00000437674.1, ENST00000539907.5
    Conserved Domains (1) summary
    pfam00245
    Location:22413
    Alk_phosphatase; Alkaline phosphatase
  4. NM_001369803.2NP_001356732.1  alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AL359815, AL592309
    Related
    ENSP00000363965.1, ENST00000374832.5
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase
  5. NM_001369804.2NP_001356733.1  alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AL359815, AL592309
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase
  6. NM_001369805.2NP_001356734.1  alkaline phosphatase, tissue-nonspecific isozyme isoform 1 precursor preproprotein

    Status: REVIEWED

    Source sequence(s)
    AL359815, AL592309
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    21508984..21578412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000903.1XP_016856392.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X2

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