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    ALPL alkaline phosphatase, liver/bone/kidney [ Homo sapiens (human) ]

    Gene ID: 249, updated on 23-Mar-2017
    Official Symbol
    ALPLprovided by HGNC
    Official Full Name
    alkaline phosphatase, liver/bone/kidneyprovided by HGNC
    Primary source
    HGNC:HGNC:438
    See related
    Ensembl:ENSG00000162551 MIM:171760; Vega:OTTHUMG00000002949
    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; TNAP; 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]
    Orthologs
    Location:
    1p36.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (21508982..21578412)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21835475..21904905)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ciliary rootlet coiled-coil, rootletin pseudogene 5 Neighboring gene NBPF member 3 Neighboring gene profilin 1 pseudogene 10 Neighboring gene uncharacterized LOC105376834 Neighboring gene RAP1 GTPase activating protein

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Common genetic variants associate with serum phosphorus concentration.
    NHGRI GWA Catalog
    Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
    NHGRI GWA Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
    NHGRI GWA Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    NHGRI GWA Catalog

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ40094, FLJ93059, MGC161443, MGC167935

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alkaline phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pyrophosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    C-terminal protein lipidation TAS
    Traceable Author Statement
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    cementum mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    developmental process involved in reproduction IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin D IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alkaline phosphatase, tissue-nonspecific isozyme
    Names
    alkaline phosphatase liver/bone/kidney isozyme
    liver/bone/kidney-type alkaline phosphatase
    tissue-nonspecific ALP
    NP_000469.3
    NP_001120973.2
    NP_001170991.1

    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_000478.5NP_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) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL359815, BC021289, HY052024
      Consensus CDS
      CCDS217.1
      UniProtKB/Swiss-Prot
      P05186
      UniProtKB/TrEMBL
      A0A024RAG0
      Related
      ENSP00000363973, OTTHUMP00000002971, ENST00000374840, OTTHUMT00000008202
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    2. NM_001127501.3NP_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)
      AK298085, AL359815, BC021289, HY052024
      Consensus CDS
      CCDS53275.1
      UniProtKB/Swiss-Prot
      P05186
      Related
      ENSP00000442672, OTTHUMP00000275691, ENST00000540617, OTTHUMT00000476517
      Conserved Domains (1) summary
      pfam00245
      Location:1435
      Alk_phosphatase; Alkaline phosphatase
    3. NM_001177520.2NP_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)
      AK295608, AL359815, BC021289, HY052024
      Consensus CDS
      CCDS53274.1
      UniProtKB/Swiss-Prot
      P05186
      Related
      ENSP00000437674, OTTHUMP00000275690, ENST00000539907, OTTHUMT00000476516
      Conserved Domains (1) summary
      pfam00245
      Location:22413
      Alk_phosphatase; Alkaline phosphatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      21508982..21578412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245818.1XP_005245875.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_005245875.1

      UniProtKB/Swiss-Prot
      P05186
      UniProtKB/TrEMBL
      A0A024RAG0
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    2. XM_006710546.2XP_006710609.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006710609.1

      UniProtKB/Swiss-Prot
      P05186
      UniProtKB/TrEMBL
      A0A024RAG0
      Related
      ENSP00000363965, OTTHUMP00000002972, ENST00000374832, OTTHUMT00000008203
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    3. XM_017000903.1XP_016856392.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      21947884..22016920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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