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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALPL Gene

protein-coding   GIFtS: 76
GCID: GC01P021835

alkaline phosphatase, liver/bone/kidney


(Previous symbol: HOPS)
 Explore 89 diseases affiliated with
ALPL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALPL    

Aliases
for ALPL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Alkaline Phosphatase, Liver/Bone/Kidney1 2     TNAP2
TNSALP1 2 3 5     Alkaline Phosphatase, Tissue-Nonspecific Isozyme2
HOPS1 2 5     Alkaline Phosphomonoesterase2
Alkaline Phosphatase Liver/Bone/Kidney Isozyme2 3     Glycerophosphatase1
AP-TNAP2 3     Liver/Bone/Kidney-Type Alkaline Phosphatase2
EC 3.1.3.13 8     Tissue-Nonspecific ALP2
APTNAP2     

External Ids:    HGNC: 4381   Entrez Gene: 2492   Ensembl: ENSG000001625517   OMIM: 1717605   UniProtKB: P051863   

Export aliases for ALPL gene to outside databases

Previous GC identifers: GC01P021405 GC01P020871 GC01P020981 GC01P021305 GC01P021581 GC01P021708 GC01P020079


Summaries
for ALPL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALPL:
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.
The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the
enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal
development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by
hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the
specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript
variants have been described. (provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186
Function: This isozyme may play a role in skeletal mineralization

Gene Wiki entry for ALPL


Genomic Views
for ALPL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALPL gene promoter:
         HFH-3   USF1   AML1a   NRSF form 1   NRSF form 2   FOXI1   USF-1   ZIC2/Zic2   MRF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALPL promoter sequence
   Search SABiosciences Chromatin IP Primers for ALPL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALPL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

ALPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALPL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P021835:  view genomic region     (about GC identifiers)

Start:
 21,835,858 bp from pter      End:
 21,904,905 bp from pter
Size:
 69,048 bases      Orientation:
 plus strand

Proteins
for ALPL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186 (See protein sequence)
Recommended Name: Alkaline phosphatase, tissue-nonspecific isozyme precursor  
Size: 524 amino acids; 57305 Da
Cofactor: Binds 1 magnesium ion (By similarity)
Cofactor: Binds 2 zinc ions (By similarity)
Subunit: Homodimer
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor
Sequence caution: Sequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A1A4E7 B2RMP8 B7Z387 B7Z4Y6 O75090 Q2TAI7 Q59EJ7 Q5BKZ5 Q5VTG5 Q6NZI8 Q8WU32
Q9UBK0
Alternative splicing: 3 isoforms:  P05186-1   P05186-2   P05186-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALPL: NX_P05186

Post-translational modifications:

  • Glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05186

    • 4/21 DME Specific Peptides for ALPL (P05186) (see all 21)
     VEGGRID  NAQVPDS  LEMDKFP  GGGRKYM 

    ALPL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_000469.3  NP_001120973.2  NP_001170991.1  

    ENSEMBL proteins: 
     ENSP00000363973   ENSP00000363965   ENSP00000363963   ENSP00000363962   ENSP00000394765  
     ENSP00000437674   ENSP00000442672  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): ALPL
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    Novus Biologicals ALPL Proteins
    Novus Biologicals ALPL Lysates
    Sino Biological Recombinant Protein for ALPL
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ALPL

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0031225anchored to membrane IEA--
    GO:0044420extracellular matrix part IEA--


    ALPL for ontologies           About GeneDecksing



    ALPL Antibody Products: 
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    Uscn ELISAs and CLIAs for ALPL

    Protein Domains /
    Families
    for ALPL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALPL for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001952 Alkaline_phosphatase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR017850 Alkaline_phosphatase_core
     IPR018299 Alkaline_phosphatase_AS

    Graphical View of Domain Structure for InterPro Entry P05186

    ProtoNet protein and cluster: P05186

    1 Blocks protein family: IPB001952 Alkaline phosphatase

    UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186
    Similarity: Belongs to the alkaline phosphatase family


    Function
    for ALPL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186
    Function: This isozyme may play a role in skeletal mineralization
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate

         Genatlas biochemistry entry for ALPL:
    phosphatase alkaline,liver/bone/kidney,non specific

    Enzyme Number (IUBMB): EC 3.1.3.11 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALPL
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate ALPL (see all 19):
    hsa-miR-623 hsa-miR-4307 hsa-miR-4311 hsa-miR-10b hsa-miR-548s hsa-miR-520a-5p hsa-miR-9 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmid: ALPL 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALPL (see all 4)
    OriGene shRNA RFP: ALPL
    OriGene siRNA: ALPL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALPL

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ALPL

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALPL (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ALPL (NM_000478)
    Sino Biological Human cDNA Clone for ALPL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALPL 

    Cell Line
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    LifeMap BioReagents: cell lines associated with ALPL: Osteogenic Package SK11,
    Osteogenic Package SM30, PureStem MEL2, NCr-fac Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALPL

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004035alkaline phosphatase activity IEA--
    GO:0016462pyrophosphatase activity IDA19874193
    GO:0046872metal ion binding IEA--


    ALPL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ALPL:
     Decreased focal adhesion (FA)  

    Animal Models:
         Mouse knock-outs for ALPL: Alpltm1Jlm Alpltm1Sor
         15/20 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Alpl) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  muscle 

    ALPL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALPL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NAD metabolism
    		NAD metabolism1.00
    		NAD metabolism1.00
    2Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    3AGE/RAGE pathway
    		AGE/RAGE pathway1.00
    4TNF-alpha/NF-kB Signaling Pathway
    		TNF-alpha/NF-kB Signaling Pathway1.00
    5Folate biosynthesis
    		Folate biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ALPL
        NAD metabolism


    1 Cell Signaling Technology (CST) Pathway for ALPL
        Wnt / Hedgehog / Notch

    1 GeneGo (Thomson Reuters) Pathway for ALPL
        NAD metabolism

    3 BioSystems Pathways for ALPL 
        AGE/RAGE pathway
    TNF-alpha/NF-kB Signaling Pathway
    Endochondral Ossification


    2         Kegg Pathways  (Kegg details for ALPL):
        Folate biosynthesis
    Metabolic pathways


    ALPL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALPL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/23 Interacting proteins for ALPL (P051862, 3 ENSP000003639654) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K14Q995582, 3MINT-8216341 MINT-8216325 MINT-8216333 MINT-8216353 I2D: score=3 
    RELAQ042062, 3, ENSP000003842734MINT-8216290 MINT-8216279 I2D: score=1 STRING: ENSP00000384273
    NFKBIAP259632, 3, ENSP000002167974MINT-8216296 I2D: score=1 STRING: ENSP00000216797
    TRAF2Q129332, 3, ENSP000002476684MINT-8216320 I2D: score=3 STRING: ENSP00000247668
    TRAF3Q131142, 3, ENSP000003324684MINT-8216310 I2D: score=3 STRING: ENSP00000332468
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9781036
    GO:0001958endochondral ossification IEA--
    GO:0003006developmental process involved in reproduction IEA--
    GO:0016311dephosphorylation ----
    GO:0032496response to lipopolysaccharide IEA--


    ALPL for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALPL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALPL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALPL

    10/15 HMDB Compounds for ALPL (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    4-Nitrophenol1-Hydroxy-4-nitrobenzene (see all 8)100-02-7--
    7,8-Dihydroneopterin2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)1218-98-0--
    Dihydroneopterin triphosphate2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)20574-65-6--
    Dihydroxyacetone1,3-Dihydroxy-2-propanone (see all 21)96-26-4--
    Dihydroxyacetone phosphate1,3-Dihydroxy-2-propanone phosphate (see all 17)57-04-5--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--

    1 DrugBank Compound for ALPL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmifostineAmifostine Ethiofos (see all 7)20537-88-6enzyme--8783662

    10/16 Novoseek chemical compound relationships for ALPL gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoethanolamine 83.1 8 7706447 (3), 17539739 (1), 9814474 (1), 16205618 (1)
    pyridoxal 5-phosphate 79 16 12542535 (3), 7706447 (3), 17241478 (2), 12162492 (2) (see all 7)
    pyrophosphate 77 19 17906411 (3), 16546821 (2), 17241478 (1), 12162492 (1) (see all 11)
    alizarin 60.9 4 19540436 (1), 19302812 (1), 18027839 (1)
    levamisole 54.5 7 18500657 (2), 17669706 (1), 17383965 (1), 19781951 (1)
    vitamin b6 51.8 3 19303062 (2), 20392236 (1)
    hydroxyapatite 37.9 2 19335222 (1), 19781951 (1)
    oligonucleotide 21.7 2 10502677 (1), 9914325 (1)
    phenylalanine 15.5 1 18422967 (1)
    retinoic acid 13.1 27 10691970 (5), 15814302 (5), 10530919 (3), 9842508 (2)

    Search CenterWatch for drugs/clinical trials and news about ALPL / PPBT 

    Transcripts
    for ALPL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ALPL gene (3 alternative transcripts): 
    NM_000478.4  NM_001127501.2  NM_001177520.1  

    Unigene Cluster for ALPL:

    Alkaline phosphatase, liver/bone/kidney
    Hs.75431  [show with all ESTs]
    Unigene Representative Sequence: NM_000478
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374840(uc001bet.3 uc010odn.2 uc001beu.4) ENST00000468526
    ENST00000374832 ENST00000374830 ENST00000374829 ENST00000425315 ENST00000539907(uc010odp.2)
    ENST00000540617(uc010odo.2)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALPL
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate ALPL (see all 19):
    hsa-miR-623 hsa-miR-4307 hsa-miR-4311 hsa-miR-10b hsa-miR-548s hsa-miR-520a-5p hsa-miR-9 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmid: ALPL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALPL (see all 4)
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    Clone
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    Primer
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALPL

    Additional cDNA sequence: 

    AB011406.1 AB012643.1 AB209814.1 AH007388.2 AK097413.1 AK293184.1 AK295608.1 AK298085.1 
    AK312667.1 BC021289.2 BC066116.1 BC090861.1 BC110909.1 BC126165.1 BC136325.1 

    10 DOTS entries:

    DT.91783068  DT.97803014  DT.95278667  DT.95278658  DT.95278671  DT.121436718  DT.91783108  DT.121436683 
    DT.99963505  DT.121436696 

    24/142 AceView cDNA sequences (see all 142):

    Y07598 BF849501 R72822 BC021289 BE466536 AI968129 X95994 S76738 
    BF849484 BQ636473 BF850182 BX956183 BQ636503 AU150353 CB265524 BC066116 
    BV207114 AI571346 BF475562 BQ062056 BM920910 AV709458 AU280433 AB011406 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ALPL    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c
    SP1:        -           -                                                           -     -                                 
    SP2:                                                                          -     -     -                                 
    SP3:                                                                                                                        
    SP4:                                                                                      -                                 
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for ALPL

    Expression
    for ALPL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALPL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCCTGTCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALPL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/29 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 29) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneCaudal Endochondral BonesEndochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral PreosteoblastsBone
    BoneMembranous Facial BonesIntramembranous OsteoblastsBone
    BoneMembranous Facial BonesIntramembranous PreosteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral OsteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral PreosteoblastsBone
    BoneRostral Skull Membranous BonesIntramembranous OsteoblastsBone
    BoneRostral Skull Membranous BonesIntramembranous PreosteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11) 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Osteoblast-like cells (Osteoblast different...)
    Mesendoderm-like cells (Generation of mesend...)

    See ALPL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALPL

    SOURCE GeneReport for Unigene cluster: Hs.75431
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALPL: 
              Osteogenesis in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for ALPL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALPL gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Alpl1 , 5 alkaline phosphatase, liver/bone/kidney1, 5 84.41(n)1
    89.89(a)1    		   4 (70.02 cM)5
    116471  NM_007431.21  NP_031457.21 
     1377417335 
    chicken
    (Gallus gallus)    		 Aves ALPL1 alkaline phosphatase, liver/bone/kidney 73.29(n)
    75.83(a)    		   396317  NM_205360.1  NP_990691.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ALPL6
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343938.1(117719-136048)
    African clawed frog
    (Xenopus laevis)    		 Amphibia AF539792.12   -- 77.87(n)    AF539792.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc566722 similar to alkaline phosphatase 2, liver 75.89(n)   393982  BC052139.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG18093
    CG56561    		 alkaline phosphatase3
    CG56561    		 44(a)
    (best of 11)3
    54.27(n)1
    46.24(a)1    		   45F33
    403721  NM_141058.21  NP_649315.11 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria phoA6
    		 bacterial alkaline phosphatase
    		 25(a)
    		 1 → many
    		 Chromosome(400971-402386)


    ENSEMBL Gene Tree for ALPL (if available)
    TreeFam Gene Tree for ALPL (if available) 

    Paralogs
    for ALPL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALPL gene
    ALPPL22  ALPI2  ALPP2  
    3 SIMAP similar genes for ALPL using alignment to 3 protein entries:     PPBT_HUMAN (see all proteins):
    ALPP    ALPI    ALPPL2

    ALPL for paralogs           About GeneDecksing



    Genomic Variants
    for ALPL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1364 NCBI SNPs in ALPL are shown (see all 1364)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219180111,2
    		Cpathogenic21889712(+) TGAGCG/ATTCCC 6 /H /R mis11Minor allele frequency- A:0.00NA 4538
    rs1219180191,2
    		C,pathogenic21890587(+) CCAGCA/GCCGCC 6 T A mis10--------
    rs1219180071,2
    		C,pathogenic21890632(+) ACAACA/GAGATG 6 K E mis10--------
    rs1219180201,2
    		Cpathogenic21896819(+) GGAACC/TGCACG 6 R C mis11Minor allele frequency- T:0.00EU 1323
    rs1219180021,2
    		Cpathogenic21900176(+) AGGGGA/CCATGC 6 D A mis10--------
    rs1219180171,2
    		Cpathogenic21900187(+) AGTACG/AAGCTG 6 /K /E mis11Minor allele frequency- A:0.00EU 1267
    rs710169201,2
    		C--20110093(+) TTTTT-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs120661621,2
    		--21833925(+) TTAGCC/TGGGCG 3 -- us2k10--------
    rs1814732811,2
    		--21833993(+) GAGCCC/TGGGAG 3 -- us2k10--------
    rs1447406921,2
    		--21834027(+) TCATGC/TTACTG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALPL (21835858 - 21904905 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for ALPL
         5 CNVs: 3285 48244 48246 47845 4214
         1 Indel: 48245
    Human Gene Mutation Database (HGMD): ALPL

    Locus Specific Mutation Databases (LSDB): ALPL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALPL
    DNA2.0 Custom Variant and Variant Library Synthesis for ALPL

    Disorders / Diseases
    for ALPL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ALPL for disorders           About GeneDecksing

    OMIM gene information: 171760   
    OMIM disorders: 241500  241510  146300  
    UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186
  • Defects in ALPL are a cause of hypophosphatasia (HOPS) [MIM:146300]. HOPS is an inherited metabolic bone
    • disease characterized by defective skeletal mineralization. Four hypophosphatasia forms are distinguished, depending
    on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is
    almost always fatal. Patients with only premature loss of deciduous teeth, but with no bone disease are regarded as
    having odontohypophosphatasia (odonto)
  • Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC) [MIM:241510]
  • Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI) [MIM:241500]

    • 20/89 diseases for ALPL (see all 89):    About MalaCards
    hypophosphatasia    hypercalcemia    hypophosphatasia, infantile    chronic recurrent multifocal osteomyelitis
    hypersensitivity reaction type ii disease    hypophosphatasia, adult    osteitis fibrosa    cleidocranial dysplasia
    acrodermatitis enteropathica    osteogenesis imperfecta    odontohypophosphatasia    anaplastic meningioma
    respiratory failure    hypophosphatemia    ankylosing spondylitis    osteomalacia
    paget's disease of bone    renal osteodystrophy    pfeiffer syndrome    arterial calcification

    3 diseases from the University of Copenhagen DISEASES database for ALPL:
    Hypophosphatasia     Rickets     Osteomalacia

    10/22 Novoseek disease relationships for ALPL gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypophosphatasia 98.9 214 9403706 (5), 1409720 (4), 1360878 (4), 10737975 (3) (see all 89)
    hypophosphatasia, childhood 95.9 5 12638946 (1), 15671102 (1), 9781036 (1), 10495141 (1)
    hypophosphatasia, infantile 95.3 10 16769381 (2), 10834525 (1), 8096553 (1), 17395561 (1) (see all 8)
    hypophosphatasia, mild 89 3 10679946 (1), 19500388 (1)
    anaplastic meningioma 69.7 2 9432670 (1), 9258258 (1)
    osteomalacia 65.8 6 16815919 (1), 19335222 (1), 20392236 (1), 9403706 (1)
    rickets 65.1 8 11547844 (1), 12674323 (1), 17395561 (1), 19335222 (1) (see all 6)
    skeletal disorder 58.3 8 17539739 (1), 8060771 (1), 18724009 (1), 15824850 (1)
    bone diseases metabolic 47.7 6 16583935 (1), 20102078 (1), 8964842 (1)
    cleidocranial dysplasia 47.7 1 12424591 (1)

    GeneTests: ALPL
    Hypophosphatasia

    Genetic Association Database (GAD): ALPL
    Human Genome Epidemiology (HuGE) Navigator: ALPL (21 documents)

    Export disorders for ALPL gene to outside databases

    Publications
    for ALPL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALPL gene, integrated from 9 sources (see all 267):
    (articles sorted by number of sources associating them with ALPL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. (PubMed id 10834525)1, 2, 4, 9 Mochizuki H.... Ozono K. (2000)
    2. Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. (PubMed id 3532105)1, 2, 3 Weiss M.J....Harris H. (1986)
    3. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. (PubMed id 15824850)1, 4, 9 Goseki-Sone M....Hosoi T. (2005)
    4. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. (PubMed id 11855933)1, 2, 9 Mumm S....Whyte M.P. (2002)
    5. Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. (PubMed id 11745997)1, 2, 9 Sergi C.... Voigtlaender T. (2001)
    6. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. (PubMed id 11834095)1, 2, 9 Watanabe H....Ishikawa I. (2001)
    7. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. (PubMed id 9781036)1, 2, 9 Mornet E.... Simon-Bouy B. (1998)
    8. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. (PubMed id 1409720)1, 2, 9 Henthorn P.S.... Whyte M.P. (1992)
    9. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. (PubMed id 11438998)1, 2, 9 Taillandier A.... Mornet E. (2001)
    10. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. (PubMed id 10679946)1, 2, 9 Taillandier A.... Mornet E. (2000)

    External Searches for ALPL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ALPL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 249 HGNC: 438 AceView: ALPL Ensembl:ENSG00000162551 euGenes: HUgn249
    ECgene: ALPL Kegg: 249 H-InvDB: ALPL

    Other Databases showing ALPL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALPL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALPL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALPL Genetics and Cytogenetics in Oncology and Haematology
    ALPLhttp://www.sesep.uvsq.fr/Database.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALPL
    Wikipedia http://en.wikipedia.org/wiki/Alkaline_phosphatase

    Intellectual Property
    for ALPL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ALPL gene:
    Search GeneIP for patents involving ALPL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

     
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