Human Gene ALPL (ENST00000374840.8_6) from GENCODE V47lift37
  Description: alkaline phosphatase, biomineralization associated, transcript variant 6 (from RefSeq NM_001369805.2)
Gencode Transcript: ENST00000374840.8_6
Gencode Gene: ENSG00000162551.14_11
Transcript (Including UTRs)
   Position: hg19 chr1:21,835,916-21,904,903 Size: 68,988 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr1:21,880,575-21,904,141 Size: 23,567 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:21,835,916-21,904,903)mRNA (may differ from genome)Protein (524 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPBT_HUMAN
DESCRIPTION: RecName: Full=Alkaline phosphatase, tissue-nonspecific isozyme; Short=AP-TNAP; Short=TNSALP; EC=3.1.3.1; AltName: Full=Alkaline phosphatase liver/bone/kidney isozyme; Flags: Precursor;
FUNCTION: This isozyme may play a role in skeletal mineralization.
CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = an alcohol + phosphate.
COFACTOR: Binds 1 magnesium ion (By similarity).
COFACTOR: Binds 2 zinc ions (By similarity).
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
PTM: Glycosylated.
DISEASE: 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).
DISEASE: Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC) [MIM:241510].
DISEASE: Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI) [MIM:241500].
SIMILARITY: Belongs to the alkaline phosphatase family.
SEQUENCE CAUTION: Sequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=ALPL; Note=Tissue nonspecific alkaline phosphatase gene mutations database; URL="http://www.sesep.uvsq.fr/Database.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALPL";
WEB RESOURCE: Name=Wikipedia; Note=Alkaline phosphatase entry; URL="http://en.wikipedia.org/wiki/Alkaline_phosphatase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALPL
Diseases sorted by gene-association score: hypophosphatasia, infantile* (1610), hypophosphatasia, childhood* (1609), hypophosphatasia, adult* (1576), hypophosphatasia* (587), prenatal benign hypophosphatasia* (350), osteomalacia (15), chronic recurrent multifocal osteomyelitis (11), chondrocalcinosis (10), rickets (9), glycosylphosphatidylinositol deficiency (9), hypochondrogenesis (7), pseudoxanthoma elasticum (7), testis seminoma (7), pfeiffer syndrome (6), respiratory failure (6), osteochondrodysplasia (5), tick infestation (5), osteogenesis imperfecta, type ii (5), meningioma, familial (5), short-rib thoracic dysplasia 3 with or without polydactyly (4), autosomal genetic disease (2), osteoporosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 322.26 RPKM in Whole Blood
Total median expression: 706.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.20199-0.318 Picture PostScript Text
3' UTR -252.40762-0.331 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017849 - Alkaline_Pase-like_a/b/a
IPR001952 - Alkaline_phosphatase
IPR018299 - Alkaline_phosphatase_AS
IPR017850 - Alkaline_phosphatase_core

Pfam Domains:
PF00245 - Alkaline phosphatase

SCOP Domains:
53649 - Alkaline phosphatase-like

ModBase Predicted Comparative 3D Structure on P05186
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004035 alkaline phosphatase activity
GO:0005515 protein binding
GO:0016462 pyrophosphatase activity
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0001649 osteoblast differentiation
GO:0001958 endochondral ossification
GO:0003006 developmental process involved in reproduction
GO:0008152 metabolic process
GO:0016311 dephosphorylation
GO:0031214 biomineral tissue development
GO:0032496 response to lipopolysaccharide
GO:0033280 response to vitamin D
GO:0046677 response to antibiotic
GO:0051384 response to glucocorticoid
GO:0071407 cellular response to organic cyclic compound
GO:0071529 cementum mineralization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031225 anchored component of membrane
GO:0065010 extracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895700 - Sequence 564 from Patent EP3253886.
AB209814 - Homo sapiens mRNA for ALPL protein variant protein.
AK312667 - Homo sapiens cDNA, FLJ93059, highly similar to Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), mRNA.
AK295608 - Homo sapiens cDNA FLJ55067 complete cds, highly similar to Alkaline phosphatase, tissue-nonspecific isozyme precursor (EC 3.1.3.1).
AK298085 - Homo sapiens cDNA FLJ59363 complete cds, highly similar to Alkaline phosphatase, tissue-nonspecific isozyme precursor (EC 3.1.3.1).
BC021289 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:29601 IMAGE:5087597), complete cds.
BC066116 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:60186 IMAGE:5754297), complete cds.
BC090861 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:102779 IMAGE:6181160), complete cds.
AH007388 - Homo sapiens bone-type alkaline phosphatase (bone-type alkaline phosphatase) mRNA, partial cds.
AB011406 - Homo sapiens mRNA for alkalin phosphatase, complete cds.
AK293184 - Homo sapiens cDNA FLJ54584 complete cds, highly similar to Alkaline phosphatase, tissue-nonspecific isozyme precursor (EC 3.1.3.1).
BC110909 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:131983 IMAGE:5752191), complete cds.
X14174 - Human mRNA for liver-type alkaline phosphatase (EC 3.1.3.1).
BC126165 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:161443 IMAGE:8991881), complete cds.
BC136325 - Homo sapiens alkaline phosphatase, liver/bone/kidney, mRNA (cDNA clone MGC:167935 IMAGE:9020312), complete cds.
HQ258287 - Synthetic construct Homo sapiens clone IMAGE:100072596 alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 2 (ALPL) gene, encodes complete protein.
KJ896413 - Synthetic construct Homo sapiens clone ccsbBroadEn_05807 ALPL gene, encodes complete protein.
KR711651 - Synthetic construct Homo sapiens clone CCSBHm_00028094 ALPL (ALPL) mRNA, encodes complete protein.
KR711652 - Synthetic construct Homo sapiens clone CCSBHm_00028123 ALPL (ALPL) mRNA, encodes complete protein.
KR711653 - Synthetic construct Homo sapiens clone CCSBHm_00028184 ALPL (ALPL) mRNA, encodes complete protein.
AB527105 - Synthetic construct DNA, clone: pF1KB5369, Homo sapiens ALPL gene for alkaline phosphatase, liver/bone/kidney, without stop codon, in Flexi system.
X95994 - H.sapiens mRNA for alkaline phosphatase (exon 1B).
JD141421 - Sequence 122445 from Patent EP1572962.
JD143302 - Sequence 124326 from Patent EP1572962.
JD152740 - Sequence 133764 from Patent EP1572962.
AB012643 - Homo sapiens mRNA for alkaline phosphatase, partial cds.
AK097413 - Homo sapiens cDNA FLJ40094 fis, clone TESTI2003911, highly similar to ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC ISOZYME PRECURSOR (EC 3.1.3.1).
JD117373 - Sequence 98397 from Patent EP1572962.
JD298472 - Sequence 279496 from Patent EP1572962.
JD154182 - Sequence 135206 from Patent EP1572962.
JD359743 - Sequence 340767 from Patent EP1572962.
JD133876 - Sequence 114900 from Patent EP1572962.
JD055523 - Sequence 36547 from Patent EP1572962.
JD099862 - Sequence 80886 from Patent EP1572962.
JD475204 - Sequence 456228 from Patent EP1572962.
JD512892 - Sequence 493916 from Patent EP1572962.
JD051558 - Sequence 32582 from Patent EP1572962.
JD117633 - Sequence 98657 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_npp1Pathway - Regulators of Bone Mineralization

Reactome (by CSHL, EBI, and GO)

Protein P05186 (Reactome details) participates in the following event(s):

R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4E7, ALPL , B2RMP8, B7Z387, B7Z4Y6, ENST00000374840.1, ENST00000374840.2, ENST00000374840.3, ENST00000374840.4, ENST00000374840.5, ENST00000374840.6, ENST00000374840.7, NM_001369805, O75090, P05186, PPBT_HUMAN, Q2TAI7, Q59EJ7, Q5BKZ5, Q5VTG5, Q6NZI8, Q8WU32, Q9UBK0, uc318lwl.1, uc318lwl.2
UCSC ID: ENST00000374840.8_6
RefSeq Accession: NM_000478.6
Protein: P05186 (aka PPBT_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALPL:
hops (Hypophosphatasia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.