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

    Gene ID: 249, updated on 28-Nov-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; TNS-ALP
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALPL in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20211119 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 Sharpr-MPRA regulatory region 4165 Neighboring gene NBPF member 3 Neighboring gene profilin 1 pseudogene 10 Neighboring gene long intergenic non-protein coding RNA 2596 Neighboring gene Sharpr-MPRA regulatory region 12165 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 ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenosine-diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables alkaline phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables alkaline phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables inorganic diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoamidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphoethanolamine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
     
    enables pyridoxal phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pyrophosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyridoxal phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    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
    phosphoamidase
    phosphocreatine 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)

    NEW Try the new Transcript table

    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 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 109.20211119

    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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