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Aliases for ALPL Gene

Aliases for ALPL Gene

  • Alkaline Phosphatase, Liver/Bone/Kidney 2 3
  • TNSALP 3 4 6
  • Alkaline Phosphatase Liver/Bone/Kidney Isozyme 3 4
  • EC 3.1.3.1 4 63
  • AP-TNAP 3 4
  • HOPS 3 6
  • Alkaline Phosphatase, Tissue-Nonspecific Isozyme 3
  • Liver/Bone/Kidney-Type Alkaline Phosphatase 3
  • Alkaline Phosphomonoesterase 3
  • Tissue-Nonspecific ALP 3
  • Glycerophosphatase 3
  • APTNAP 3
  • TNAP 3

External Ids for ALPL Gene

Previous HGNC Symbols for ALPL Gene

  • HOPS

Previous GeneCards Identifiers for ALPL Gene

  • GC01P021405
  • GC01P020871
  • GC01P020981
  • GC01P021305
  • GC01P021581
  • GC01P021708
  • GC01P021835
  • GC01P020079

Summaries for ALPL Gene

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 hypophosphatasia, infantile and hypophosphatasia, childhood. Among its related pathways are Endochondral Ossification and Metabolism. GO annotations related to this gene include alkaline phosphatase activity and pyrophosphatase activity. An important paralog of this gene is ALPP.

UniProtKB/Swiss-Prot for ALPL Gene

  • This isozyme may play a role in skeletal mineralization

Gene Wiki entry for ALPL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALPL Gene

Genomics for ALPL Gene

Regulatory Elements for ALPL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALPL Gene

Start:
21,508,982 bp from pter
End:
21,578,412 bp from pter
Size:
69,431 bases
Orientation:
Plus strand

Genomic View for ALPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPL Gene

Proteins for ALPL Gene

  • Protein details for ALPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05186-PPBT_HUMAN
    Recommended name:
    Alkaline phosphatase, tissue-nonspecific isozyme
    Protein Accession:
    P05186
    Secondary Accessions:
    • A1A4E7
    • B2RMP8
    • B7Z387
    • B7Z4Y6
    • O75090
    • Q2TAI7
    • Q59EJ7
    • Q5BKZ5
    • Q5VTG5
    • Q6NZI8
    • Q8WU32
    • Q9UBK0

    Protein attributes for ALPL Gene

    Size:
    524 amino acids
    Molecular mass:
    57305 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion.;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions.;
    Quaternary structure:
    • Homodimer
    SequenceCaution:
    • Sequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPL Gene

Proteomics data for ALPL Gene at MOPED

Post-translational modifications for ALPL Gene

Other Protein References for ALPL Gene

Antibody Products

  • R&D Systems Antibodies for ALPL (Alkaline Phosphatase/ALPL)
  • Cell Signaling Technology (CST) Antibodies for ALPL (ALPL)

Domains for ALPL Gene

Suggested Antigen Peptide Sequences for ALPL Gene

Graphical View of Domain Structure for InterPro Entry

P05186

UniProtKB/Swiss-Prot:

PPBT_HUMAN :
  • P05186
Family:
  • Belongs to the alkaline phosphatase family.
genes like me logo Genes that share domains with ALPL: view

No data available for Gene Families for ALPL Gene

Function for ALPL Gene

Molecular function for ALPL Gene

GENATLAS Biochemistry: phosphatase alkaline,liver/bone/kidney,non specific
UniProtKB/Swiss-Prot CatalyticActivity: A phosphate monoester + H(2)O = an alcohol + phosphate.
UniProtKB/Swiss-Prot Function: This isozyme may play a role in skeletal mineralization

Enzyme Numbers (IUBMB) for ALPL Gene

Gene Ontology (GO) - Molecular Function for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004035 alkaline phosphatase activity IEA --
GO:0005515 protein binding IPI 15208311
GO:0016462 pyrophosphatase activity IDA 19874193
GO:0016791 phosphatase activity --
genes like me logo Genes that share ontologies with ALPL: view
genes like me logo Genes that share phenotypes with ALPL: view

Animal Models for ALPL Gene

MGI Knock Outs for ALPL:

Animal Model Products

CRISPR Products

miRNA for ALPL Gene

miRTarBase miRNAs that target ALPL

No data available for Transcription Factor Targeting and HOMER Transcription for ALPL Gene

Localization for ALPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPL Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALPL Gene COMPARTMENTS Subcellular localization image for ALPL gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 3
cytosol 3
endoplasmic reticulum 3
nucleus 3
endosome 2
golgi apparatus 2
lysosome 2
mitochondrion 2
peroxisome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 16210410
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ALPL: view

Pathways for ALPL Gene

genes like me logo Genes that share pathways with ALPL: view

Pathways by source for ALPL Gene

1 Cell Signaling Technology pathway for ALPL Gene
2 KEGG pathways for ALPL Gene
1 GeneGo (Thomson Reuters) pathway for ALPL Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9781036
GO:0001649 osteoblast differentiation IDA 16210410
GO:0001958 endochondral ossification IEA --
GO:0003006 developmental process involved in reproduction IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ALPL: view

Compounds for ALPL Gene

(15) HMDB Compounds for ALPL Gene

Compound Synonyms Cas Number PubMed IDs
1-Butanol
  • 1-Butanol
71-36-3
1-Hexanol
  • 1-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
71-41-0
4-Nitrophenol
  • 1-Hydroxy-4-nitrobenzene
100-02-7
7,8-Dihydroneopterin
  • 2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine
1218-98-0

(2) Drugbank Compounds for ALPL Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amifostine
  • Amifostine Ethiofos
20537-88-6 enzyme
Fospropofol
258516-87-9 enzyme substrate

(16) Novoseek inferred chemical compound relationships for ALPL Gene

Compound -log(P) Hits PubMed IDs
phosphoethanolamine 83.1 6
pyridoxal 5-phosphate 79 13
pyrophosphate 77 14
alizarin 60.9 3
levamisole 54.5 5
genes like me logo Genes that share compounds with ALPL: view

Transcripts for ALPL Gene

Unigene Clusters for ALPL Gene

Alkaline phosphatase, liver/bone/kidney:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALPL

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALPL Gene

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:

Relevant External Links for ALPL Gene

GeneLoc Exon Structure for
ALPL
ECgene alternative splicing isoforms for
ALPL

Expression for ALPL Gene

mRNA expression in normal human tissues for ALPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALPL Gene

This gene is overexpressed in Whole Blood (36.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ALPL Gene

SOURCE GeneReport for Unigene cluster for ALPL Gene Hs.75431

genes like me logo Genes that share expressions with ALPL: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ALPL Gene

Orthologs for ALPL Gene

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

Orthologs for ALPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALPL 35
  • 94.37 (n)
  • 92.71 (a)
ALPL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALPL 35
  • 89.47 (n)
  • 91.35 (a)
ALPL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALP 36
  • 90 (a)
OneToOne
ALPL 35
  • 89.55 (n)
  • 90.57 (a)
mouse
(Mus musculus)
Mammalia Alpl 35
  • 85.15 (n)
  • 91.49 (a)
Alpl 16
Alpl 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALPL 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPL 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alpl 35
  • 86.2 (n)
  • 91.68 (a)
chicken
(Gallus gallus)
Aves ALPL 35
  • 73.93 (n)
  • 76.6 (a)
ALPL 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALPL 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485467 35
  • 71.31 (n)
  • 73.97 (a)
zebrafish
(Danio rerio)
Actinopterygii alp3 35
  • 60.04 (n)
  • 60.89 (a)
alpl 36
  • 68 (a)
OneToOne
zgc56672 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001684 35
  • 54.2 (n)
  • 46.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aph-4 36
  • 32 (a)
ManyToMany
CG10592 36
  • 36 (a)
ManyToMany
CG10827 36
  • 36 (a)
ManyToMany
CG16771 36
  • 30 (a)
ManyToMany
CG1809 36
  • 37 (a)
ManyToMany
CG3264 36
  • 35 (a)
ManyToMany
CG3290 36
  • 34 (a)
ManyToMany
CG3292 36
  • 31 (a)
ManyToMany
CG5150 36
  • 35 (a)
ManyToMany
CG5361 36
  • 21 (a)
ManyToMany
CG5656 36
  • 35 (a)
ManyToMany
CG8105 36
  • 35 (a)
ManyToMany
CG8147 35
  • 53.42 (n)
  • 46.29 (a)
CG8147 36
  • 34 (a)
ManyToMany
Aph-4 37
  • 42 (a)
CG8105 37
  • 38 (a)
CG10827 37
  • 43 (a)
CG3290 37
  • 41 (a)
CG3292 37
  • 40 (a)
CG3264 37
  • 41 (a)
CG5150 37
  • 42 (a)
CG16771 37
  • 42 (a)
CG10592 37
  • 43 (a)
CG1809 37
  • 44 (a)
CG5656 37
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 36
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1365 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
CSA.180 36
  • 39 (a)
ManyToMany
CSA.4362 36
  • 38 (a)
ManyToMany
Species with no ortholog for ALPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALPL Gene

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

Paralogs for ALPL Gene

Paralogs for ALPL Gene

Selected SIMAP similar genes for ALPL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ALPL: view

Variants for ALPL Gene

Sequence variations from dbSNP and Humsavar for ALPL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs869178 -- 21,513,725(-) TAAAT(A/T)AAAGT intron-variant
rs869179 -- 21,513,636(-) CCCAG(C/T)ACACA intron-variant
rs869180 -- 21,513,237(-) CTGGG(C/T)AAGCC intron-variant
rs869181 -- 21,512,808(+) CAGCC(G/T)CACTG intron-variant
rs871132 -- 21,536,132(-) TGACA(A/G)GTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALPL Gene

Variant ID Type Subtype PubMed ID
nsv870456 CNV Gain 21882294
esv34155 CNV Loss 18971310
dgv42e1 CNV Complex 17122850
nsv428432 CNV Gain 18775914
nsv834391 CNV Loss 17160897
esv1457635 CNV Insertion 17803354
nsv517096 CNV Loss 19592680
dgv189n71 CNV Loss 21882294
esv2745075 CNV Deletion 23290073
dgv190n71 CNV Loss 21882294
nsv871612 CNV Loss 21882294
nsv460740 CNV Loss 19166990
esv2672081 CNV Deletion 23128226
nsv871706 CNV Loss 21882294
nsv508359 CNV Loss 20534489
nsv509002 CNV Insertion 20534489

Relevant External Links for ALPL Gene

HapMap Linkage Disequilibrium report
ALPL
Human Gene Mutation Database (HGMD)
ALPL
Locus Specific Mutation Databases (LSDB)
ALPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPL Gene

Disorders for ALPL Gene

(3) OMIM Diseases for ALPL Gene (171760)

UniProtKB/Swiss-Prot

PPBT_HUMAN
  • 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). {ECO:0000269 PubMed:10094560, ECO:0000269 PubMed:10332035, ECO:0000269 PubMed:10679946, ECO:0000269 PubMed:10690885, ECO:0000269 PubMed:10834525, ECO:0000269 PubMed:11438998, ECO:0000269 PubMed:11745997, ECO:0000269 PubMed:11760847, ECO:0000269 PubMed:11834095, ECO:0000269 PubMed:11855933, ECO:0000269 PubMed:11999978, ECO:0000269 PubMed:12815606, ECO:0000269 PubMed:12920074, ECO:0000269 PubMed:1409720, ECO:0000269 PubMed:15135428, ECO:0000269 PubMed:15694177, ECO:0000269 PubMed:3174660, ECO:0000269 PubMed:7833929, ECO:0000269 PubMed:8406453, ECO:0000269 PubMed:8954059, ECO:0000269 PubMed:9452105, ECO:0000269 PubMed:9747027, ECO:0000269 PubMed:9781036}. 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.

(22) Novoseek inferred disease relationships for ALPL Gene

Disease -log(P) Hits PubMed IDs
hypophosphatasia 98.9 138
hypophosphatasia, childhood 95.9 4
hypophosphatasia, infantile 95.3 9
hypophosphatasia, mild 89 2
anaplastic meningioma 69.7 2

Relevant External Links for ALPL

GeneTests
ALPL
GeneReviews
ALPL
Genetic Association Database (GAD)
ALPL
Human Genome Epidemiology (HuGE) Navigator
ALPL
genes like me logo Genes that share disorders with ALPL: view

Publications for ALPL Gene

  1. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. (PMID: 10834525) Mochizuki H. … Ozono K. (Eur. J. Pediatr. 2000) 3 4 23 48
  2. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. (PMID: 11438998) Taillandier A. … Mornet E. (Hum. Mutat. 2001) 3 4 23
  3. A molecular approach to dominance in hypophosphatasia. (PMID: 11479741) Lia-Baldini A.S. … Mornet E. (Hum. Genet. 2001) 3 4 23
  4. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. (PMID: 9747027) Sugimoto N. … Kajii E. (J. Hum. Genet. 1998) 3 4 23
  5. 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. (PMID: 10679946) Taillandier A. … Mornet E. (Hum. Mutat. 2000) 3 4 23

Products for ALPL Gene

Sources for ALPL Gene

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