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ALPL Gene

protein-coding   GIFtS: 75
GCID: GC01P021835

Alkaline Phosphatase, Liver/Bone/Kidney


(Previous symbol: HOPS)
  See ALPL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alkaline Phosphatase, Liver/Bone/Kidney1 2     TNAP2
HOPS1 2 5     Alkaline Phosphatase, Tissue-Nonspecific Isozyme2
TNSALP2 3 5     Alkaline Phosphomonoesterase2
Alkaline Phosphatase Liver/Bone/Kidney Isozyme2 3     glycerophosphatase2
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALPL Gene:
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)

GeneCards Summary for ALPL Gene:
ALPL (alkaline phosphatase, liver/bone/kidney) is a protein-coding gene. Diseases associated with ALPL include odontohypophosphatasia, and prenatal benign hypophosphatasia. GO annotations related to this gene include pyrophosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPPL2.

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

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 plasmidALPL promoter sequence
   Search Chromatin IP Primers for ALPL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for ALPL at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Glycosylation2 at Asn140, Asn230, Asn271, Asn303, Asn430
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALPL (P05186) (see all 21)
     VEGGRID  NAQVPDS  LEMDKFP  GGGRKYM 


    See ALPL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000363973   ENSP00000363965   ENSP00000363963   ENSP00000363962   ENSP00000394765  
     ENSP00000437674   ENSP00000442672  

    ALPL Human Recombinant Protein Products:

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    R&D Systems Recombinant & Natural Proteins for ALPL (Alkaline Phosphatase/ALPL)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ALPL
    OriGene Protein Over-expression Lysate for ALPL
    OriGene MassSpec for ALPL
    OriGene Custom Protein Services for ALPL
    GenScript Custom Purified and Recombinant Proteins Services for ALPL
    Novus Biologicals ALPL Proteins
    Novus Biologicals ALPL Lysates
    Sino Biological Recombinant Protein for ALPL
    Sino Biological Cell Lysate for ALPL
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALPL

     
    Search eBioscience for Proteins for ALPL 

     
    antibodies-online proteins for ALPL (23 products) 

     
    antibodies-online peptides for ALPL

    ALPL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ALPL (Alkaline Phosphatase/ALPL)
    Cell Signaling Technology (CST) Antibodies for ALPL 
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    Abcam antibodies for ALPL
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    ThermoFisher Antibody for ALPL
    antibodies-online antibodies for ALPL (108 products) 

    ALPL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ALPL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALPL
    Cloud-Clone Corp. CLIAs for ALPL
    Search eBioscience for ELISAs for ALPL 
    antibodies-online kits for ALPL (19 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     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 domain: IPB001952 Alkaline phosphatase

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


    Find genes that share domains with ALPL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004035alkaline phosphatase activity IEA--
    GO:0005515protein binding IPI15208311
    GO:0016462pyrophosphatase activity IDA19874193
    GO:0016791phosphatase activity ----
         
    Find genes that share ontologies with ALPL           About GenesLikeMe


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

         Selected 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/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  muscle 

    Find genes that share phenotypes with ALPL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ALPL: Alpltm1Jlm Alpltm1Sor

       genOway: Develop your customized and physiologically relevant rodent model for ALPL

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALPL:
    hsa-mir-204-5p (MIRT007116)

    Block miRNA regulation of human, mouse, rat ALPL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidALPL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALPL
    Predesigned siRNA for gene silencing in human, mouse, rat ALPL

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

    Clone
    Products:
         
    OriGene clones in human, mouse for ALPL (see all 16)
    OriGene ORF clones in mouse, rat for ALPL
    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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    GenScript Custom overexpressing Cell Line Services for ALPL
    ESI BIO PureStem Progenitors for ALPL: 
    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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PPBT_HUMAN, P05186: Cell membrane; Lipid-anchor, GPI-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    cytoskeleton3
    cytosol3
    endoplasmic reticulum3
    nucleus3
    endosome2
    golgi apparatus2
    lysosome2
    mitochondrion2
    peroxisome2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0031012extracellular matrix IEA--
    GO:0031225anchored component of membrane IEA--

    Find genes that share ontologies with ALPL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ALPL About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Nicotinate and nicotinamide metabolism
    NAD metabolism0.43
    2Metabolism
    Metabolic pathways0.38
    3Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    4TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    5Folate biosynthesis
    Folate biosynthesis


    Find genes that share SuperPaths with ALPL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 GeneGo (Thomson Reuters) Pathway for ALPL
        NAD metabolism

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



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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALPL: 
              Osteogenesis in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALPL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALPL (P051861, 2, 3 ENSP000003639654) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K14Q995581, 2, 3EBI-1054354,EBI-358011 MINT-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): Selected biological process terms (see all 11):    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:0008152metabolic process ----
    GO:0016311dephosphorylation ----

    Find genes that share ontologies with ALPL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALPL (PPBT)

    Selected 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--

    2 DrugBank Compounds for ALPL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmifostineAmifostine Ethiofos (see all 7)20537-88-6enzyme--8783662
    Fospropofol-- 258516-87-9enzymesubstrate22820718

    Selected Novoseek inferred 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)



    Find genes that share compounds with ALPL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Block miRNA regulation of human, mouse, rat ALPL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidALPL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALPL
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ALPL (NM_000478)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALPL
    Primer
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    OriGene qPCR primer pairs and template standards for ALPL
    OriGene qSTAR qPCR primer pairs in human, mouse for ALPL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALPL
      QuantiTect SYBR Green Assays in human, mouse, rat ALPL
      Search QuantiFast Probe-based Assays in human, mouse, rat ALPL

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 142):

    BC021289 BX956183 R72822 AI968129 S76738 X95994 BF849484 Y07598 
    BQ636473 BF849501 BQ636503 BE466536 BF850182 AU132331 CB850846 AH007388 
    BF849494 AU125364 AU131652 AU127665 AU122537 AK097413 AU141847 AU150353 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ALPL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCTGTCCC
    ALPL Expression
    About this image


    ALPL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 27 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Rib
             Mesenchymal Precursor Cells (STRO-3 selected)
             HyStem+BMP4-induced MEL2 cells
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Microvessels
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Bone Marrow Stromal Cells Bone Marrow
             Meckel's Cartilage
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Mesenchymal Stem Cells Microvessels
    ALPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75431
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALPL: 
              Osteogenesis in human mouse rat
              Embryonic Stem Cells in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALPL gene from Selected species (see all 17)    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 85.15(n)1
    91.49(a)1
      4 (70.02 cM)5
    116471  NM_001287172.11  NP_001274101.11 
     1377417335 
    chicken
    (Gallus gallus)
    Aves ALPL1 alkaline phosphatase, liver/bone/kidney 73.93(n)
    76.6(a)
      396317  NM_205360.1  NP_990691.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALPL6
    alkaline phosphatase, liver/bone/kidney
    76(a)
    1 ↔ 1
    GL343938.1(117719-136198)
    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
    CG81471
    alkaline phosphatase3
    CG81471
    44(a)
    (best of 11)3
    53.42(n)1
    46.29(a)1
      45F33
    411351  NM_141640.51  NP_649897.41 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHO86
    Repressible vacuolar alkaline phosphatase; regulat...
    21(a)
    1 → many
    IV(1418550-1420250) YDR481C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with ALPL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALPL (see all 1812)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493449821,2,,4
    C,FHypophosphatasia (HOPS)4 --22101316(+) CCTGCG/ACTGGG 6 /H /R mis12Minor allele frequency- A:0.01NA EU 4945
    rs1219180191,2,,4
    CHypophosphatasia (HOPS)4 pathogenic122102143(+) CCAGCA/GCCGCC 6 T A mis10--------
    rs1996699881,2,,4
    CHypophosphatasia (HOPS)4 --22102146(+) GCGCCA/GCCTAC 6 T A mis10--------
    rs1219180071,2,,4
    CHypophosphatasia (HOPS)4 pathogenic122102188(+) ACAACA/GAGATG 6 K E mis10--------
    VAR_0061624
    Hypophosphatasia (HOPS)4--see VAR_0061622 L F mis40--------
    VAR_0061484
    Hypophosphatasia (HOPS)4--see VAR_0061482 M L mis40--------
    VAR_0139844
    Hypophosphatasia (HOPS)4--see VAR_0139842 N D mis40--------
    rs289339741,2,4
    Hypophosphatasia (HOPS)4--see VAR_0139772 mis40--------
    VAR_0110814
    Hypophosphatasia (HOPS)4--see VAR_0110812 A V mis40--------
    VAR_0131464
    Hypophosphatasia (HOPS)4--see VAR_0131462 A V mis40--------

    HapMap Linkage Disequilibrium report for ALPL (21835858 - 21904905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALPL (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745075CNV Deletion23290073
    esv2672081CNV Deletion23128226
    nsv509002CNV Insertion20534489
    esv1457635CNV Insertion17803354
    nsv460740CNV Loss19166990
    nsv871612CNV Loss21882294
    dgv190n71CNV Loss21882294
    nsv508359CNV Loss20534489
    nsv517096CNV Loss19592680
    esv34155CNV Loss18971310

    Human Gene Mutation Database (HGMD): ALPL
    Locus Specific Mutation Databases (LSDB): ALPL

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALPL
    DNA2.0 Custom Variant and Variant Library Synthesis for ALPL

    (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.)
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    OMIM gene information: 171760   
    OMIM disorders: 241500  241510  146300  
    UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186
  • Hypophosphatasia (HOPS) [MIM:146300]: A metabolic bone disease characterized by defective skeletal
    mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline
    phosphatase. Four 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. The adult form is mild and
    characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic,
    while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Hypophosphatasia childhood type (HOPSC) [MIM:241510]: A bone disease characterized by defective skeletal
    mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline
    phosphatase. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Hypophosphatasia infantile type (HOPSI) [MIM:241500]: A severe bone disease characterized by defective
    skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline
    phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with
    onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and
    death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately
    severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being
    determined on routine studies. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for ALPL:    
    About MalaCards
    odontohypophosphatasia    prenatal benign hypophosphatasia    hypophosphatasia, adult    hypophosphatasia
    hypophosphatasia, infantile    chronic recurrent multifocal osteomyelitis    glycosylphosphatidylinositol deficiency    cleidocranial dysplasia
    hypercalcemia    choledocholithiasis    osteomyelitis    osteitis fibrosa
    meningioma

    Selected diseases from the University of Copenhagen DISEASES database for ALPL (see all 54):
    Osteoporosis     Liver disease     Cholestasis     Hyperparathyroidism
    Hypophosphatasia     Osteomalacia     Cholangitis     Rickets
    Paget's disease of bone     Renal osteodystrophy     Hypercalcemia     Kidney failure
    Osteitis fibrosa     Hypersensitivity reaction type II disease     Choledocholithiasis     Seminoma
    Hypophosphatemia     Carcinoma     Breast cancer     Diarrhea

    Find genes that share disorders with ALPL           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: ALPL
    Genetic Association Database (GAD): ALPL
    Human Genome Epidemiology (HuGE) Navigator: ALPL (21 documents)

    Export disorders for ALPL gene to outside databases

    (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)
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    PubMed articles for ALPL gene, integrated from 10 sources (see all 290):
    (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. (Eur. J. Pediatr. 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. (Proc. Natl. Acad. Sci. U.S.A. 1986)
    3. Functional analysis of the single nucleotide polymorphism (787T&gt;C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. (PubMed id 15824850)1, 4, 9 Goseki-Sone M....Hosoi T. (J. Bone Miner. Res. 2005)
    4. Association of a TNAP haplotype with ankylosing spondylitis. (PubMed id 17195227)1, 4, 9 Tsui H.W....Tsui F.W. (Arthritis Rheum. 2007)
    5. Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (PubMed id 17043047)1, 4, 9 Zhang Y....Wordsworth B.P. (Rheumatology (Oxford) 2007)
    6. 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. (Mol. Genet. Metab. 2002)
    7. Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. (PubMed id 19931660)1, 4, 9 Ermakov S....NA1rnberg P. (Bone 2010)
    8. 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. (Am. J. Med. Genet. 2001)
    9. 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. (Oral Dis. 2001)
    10. 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. (Eur. J. Hum. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=ALPL[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Alkaline_phosphatase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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