Details for: ALPL

Gene ID: 249

Symbol: ALPL

Ensembl ID: ENSG00000162551

Description: alkaline phosphatase, biomineralization associated

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 4.1844
    Cell Significance Index: 31.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.5812
    Cell Significance Index: 69.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.4769
    Cell Significance Index: 151.8600
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 2.4467
    Cell Significance Index: 22.2100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.2781
    Cell Significance Index: 72.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7754
    Cell Significance Index: 147.5700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.7697
    Cell Significance Index: 9.1800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.5862
    Cell Significance Index: 9.8800
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.5505
    Cell Significance Index: 4.3800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4357
    Cell Significance Index: 9.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3976
    Cell Significance Index: 39.3300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3759
    Cell Significance Index: 8.6900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3662
    Cell Significance Index: 330.6400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3543
    Cell Significance Index: 7.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3344
    Cell Significance Index: 21.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.3136
    Cell Significance Index: 237.3700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2830
    Cell Significance Index: 4.0700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2709
    Cell Significance Index: 29.4700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2550
    Cell Significance Index: 15.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2372
    Cell Significance Index: 30.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2287
    Cell Significance Index: 37.2000
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.2051
    Cell Significance Index: 1.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1839
    Cell Significance Index: 26.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1444
    Cell Significance Index: 28.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1351
    Cell Significance Index: 9.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1285
    Cell Significance Index: 14.9800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0701
    Cell Significance Index: 38.2900
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.0671
    Cell Significance Index: 0.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0421
    Cell Significance Index: 1.9800
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.0402
    Cell Significance Index: 0.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0325
    Cell Significance Index: 6.5200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0261
    Cell Significance Index: 49.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0168
    Cell Significance Index: 2.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0134
    Cell Significance Index: 1.0000
  • Cell Name: pulmonary alveolar type 2 cell (CL0002063)
    Fold Change: 0.0048
    Cell Significance Index: 0.0400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0019
    Cell Significance Index: 0.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0039
    Cell Significance Index: -7.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0051
    Cell Significance Index: -0.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0055
    Cell Significance Index: -8.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0059
    Cell Significance Index: -0.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0061
    Cell Significance Index: -2.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0064
    Cell Significance Index: -4.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0072
    Cell Significance Index: -0.1800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0074
    Cell Significance Index: -10.0300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0094
    Cell Significance Index: -6.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0094
    Cell Significance Index: -0.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0115
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0121
    Cell Significance Index: -8.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0133
    Cell Significance Index: -5.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0149
    Cell Significance Index: -8.4300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0169
    Cell Significance Index: -0.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0170
    Cell Significance Index: -7.7400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0184
    Cell Significance Index: -2.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0250
    Cell Significance Index: -7.1900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0276
    Cell Significance Index: -0.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0342
    Cell Significance Index: -6.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0361
    Cell Significance Index: -4.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0382
    Cell Significance Index: -8.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0412
    Cell Significance Index: -7.0400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0474
    Cell Significance Index: -3.6400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0514
    Cell Significance Index: -0.4100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0540
    Cell Significance Index: -2.5200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0578
    Cell Significance Index: -5.9000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0584
    Cell Significance Index: -7.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0653
    Cell Significance Index: -3.4300
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.0698
    Cell Significance Index: -0.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0735
    Cell Significance Index: -5.2000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0744
    Cell Significance Index: -1.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0747
    Cell Significance Index: -7.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0753
    Cell Significance Index: -8.6300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0933
    Cell Significance Index: -7.3900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0998
    Cell Significance Index: -2.0700
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1060
    Cell Significance Index: -0.8100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1081
    Cell Significance Index: -7.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1126
    Cell Significance Index: -6.9200
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1175
    Cell Significance Index: -1.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1204
    Cell Significance Index: -6.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1301
    Cell Significance Index: -7.3000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1321
    Cell Significance Index: -3.2000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1376
    Cell Significance Index: -8.8800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1504
    Cell Significance Index: -4.4300
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: -0.1527
    Cell Significance Index: -0.9600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.1545
    Cell Significance Index: -1.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1670
    Cell Significance Index: -3.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1683
    Cell Significance Index: -8.7500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1720
    Cell Significance Index: -7.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1765
    Cell Significance Index: -4.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1803
    Cell Significance Index: -3.0900
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.1923
    Cell Significance Index: -1.5900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1942
    Cell Significance Index: -7.1300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1975
    Cell Significance Index: -6.9200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1986
    Cell Significance Index: -6.3300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2031
    Cell Significance Index: -3.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2035
    Cell Significance Index: -7.7100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2102
    Cell Significance Index: -3.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2219
    Cell Significance Index: -7.7100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2289
    Cell Significance Index: -3.8300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2289
    Cell Significance Index: -6.0200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2324
    Cell Significance Index: -7.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2469
    Cell Significance Index: -6.9000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Gene Expression:** ALPL is significantly expressed in various cell types, including osteoblasts, preosteoblasts, pneumocytes, and primordial germ cells. 2. **Protein Function:** ALPL encodes for alkaline phosphatase, an enzyme involved in the dephosphorylation of various substrates, including inorganic phosphate and pyridoxal phosphate. 3. **Biomineralization:** ALPL plays a crucial role in the biomineralization process, particularly in bone mineralization and cementum mineralization. 4. **Cellular Homeostasis:** ALPL is involved in maintaining cellular homeostasis by regulating calcium ion homeostasis, phosphate ion homeostasis, and cellular response to organic cyclic compounds. **Pathways and Functions:** 1. **Adp Phosphatase Activity:** ALPL is involved in adp phosphatase activity, which is crucial for regulating cellular energy metabolism. 2. **Alkaline Phosphatase Activity:** ALPL encodes for alkaline phosphatase, an enzyme that catalyzes the dephosphorylation of various substrates, including inorganic phosphate and pyridoxal phosphate. 3. **Atp Hydrolysis Activity:** ALPL is involved in atp hydrolysis activity, which is essential for regulating cellular energy metabolism. 4. **Bone Mineralization:** ALPL plays a crucial role in bone mineralization, particularly in osteoblast differentiation and endochondral ossification. 5. **Calcium Ion Homeostasis:** ALPL is involved in maintaining calcium ion homeostasis, which is essential for regulating various cellular processes, including muscle contraction and neuronal function. 6. **Cellular Response to Organic Cyclic Compound:** ALPL is involved in the cellular response to organic cyclic compounds, which is crucial for regulating cellular homeostasis. **Clinical Significance:** 1. **Bone Disorders:** ALPL mutations have been associated with various bone disorders, including osteopetrosis, hypophosphatemic rickets, and osteomalacia. 2. **Immunological Disorders:** ALPL has been implicated in immunological disorders, including autoimmune diseases, such as rheumatoid arthritis and lupus. 3. **Cancer:** ALPL has been associated with various cancers, including colorectal cancer and breast cancer. 4. **Neurological Disorders:** ALPL has been implicated in neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, the ALPL gene plays a multifaceted role in various cellular processes, from bone mineralization to cellular homeostasis. Its involvement in multiple pathways, including adp phosphatase activity, alkaline phosphatase activity, and calcium ion homeostasis, underscores its importance in maintaining cellular and physiological balance. Further research is necessary to elucidate the clinical significance of ALPL in immunological and non-immunological contexts.

Genular Protein ID: 2604184513

Symbol: PPBT_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3532105

Title: Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.

PubMed ID: 3532105

DOI: 10.1073/pnas.83.19.7182

PubMed ID: 3165380

Title: Structure of the human liver/bone/kidney alkaline phosphatase gene.

PubMed ID: 3165380

DOI: 10.1016/s0021-9258(18)37885-2

PubMed ID: 2928120

Title: Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.

PubMed ID: 2928120

DOI: 10.1093/nar/17.5.2129

PubMed ID: 9747027

Title: A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.

PubMed ID: 9747027

DOI: 10.1007/s100380050061

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3954357

Title: Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme.

PubMed ID: 3954357

DOI: 10.1016/0003-9861(86)90223-7

PubMed ID: 1458595

Title: Chemical nature of intestinal-type alkaline phosphatase in human kidney.

PubMed ID: 1458595

PubMed ID: 2220817

Title: Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.

PubMed ID: 2220817

PubMed ID: 11395499

Title: Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization.

PubMed ID: 11395499

DOI: 10.1074/jbc.m102788200

PubMed ID: 17566972

Title: Computational approach for identification and characterization of GPI-anchored peptides in proteomics experiments.

PubMed ID: 17566972

DOI: 10.1002/pmic.200700068

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 25775211

Title: Functional significance of calcium binding to tissue-nonspecific alkaline phosphatase.

PubMed ID: 25775211

DOI: 10.1371/journal.pone.0119874

PubMed ID: 20049532

Title: Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

PubMed ID: 20049532

DOI: 10.1007/s10545-009-9012-y

PubMed ID: 28448526

Title: Human alkaline phosphatase dephosphorylates microbial products and is elevated in preterm neonates with a history of late-onset sepsis.

PubMed ID: 28448526

DOI: 10.1371/journal.pone.0175936

PubMed ID: 3174660

Title: A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

PubMed ID: 3174660

DOI: 10.1073/pnas.85.20.7666

PubMed ID: 1409720

Title: Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

PubMed ID: 1409720

DOI: 10.1073/pnas.89.20.9924

PubMed ID: 8406453

Title: A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

PubMed ID: 8406453

DOI: 10.1006/geno.1993.1305

PubMed ID: 7833929

Title: Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

PubMed ID: 7833929

DOI: 10.1093/hmg/3.9.1683

PubMed ID: 8954059

Title: Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

PubMed ID: 8954059

DOI: 10.1210/jcem.81.12.8954059

PubMed ID: 9781036

Title: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

PubMed ID: 9781036

DOI: 10.1038/sj.ejhg.5200190

PubMed ID: 9452105

Title: Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

PubMed ID: 9452105

DOI: 10.1002/humu.1380110184

PubMed ID: 10332035

Title: Correlations of genotype and phenotype in hypophosphatasia.

PubMed ID: 10332035

DOI: 10.1093/hmg/8.6.1039

PubMed ID: 10094560

Title: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.

PubMed ID: 10094560

DOI: 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t

PubMed ID: 10834525

Title: Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.

PubMed ID: 10834525

DOI: 10.1007/s004310051290

PubMed ID: 10679946

Title: 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

DOI: 10.1002/(sici)1098-1004(200003)15:3<293::aid-humu11>3.0.co;2-q

PubMed ID: 10690885

Title: Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.

PubMed ID: 10690885

DOI: 10.1210/jcem.85.2.6373

PubMed ID: 11745997

Title: 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

DOI: 10.1002/ajmg.1541.abs

PubMed ID: 11479741

Title: A molecular approach to dominance in hypophosphatasia.

PubMed ID: 11479741

DOI: 10.1007/s004390100546

PubMed ID: 11438998

Title: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

PubMed ID: 11438998

DOI: 10.1002/humu.1154

PubMed ID: 11760847

Title: Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

PubMed ID: 11760847

DOI: 10.1359/jbmr.2001.16.12.2313

PubMed ID: 11834095

Title: A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.

PubMed ID: 11834095

DOI: 10.1034/j.1601-0825.2001.00740.x

PubMed ID: 12162492

Title: Kinetic characterization of hypophosphatasia mutations with physiological substrates.

PubMed ID: 12162492

DOI: 10.1359/jbmr.2002.17.8.1383

PubMed ID: 11999978

Title: Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

PubMed ID: 11999978

DOI: 10.1023/a:1015121414782

PubMed ID: 11855933

Title: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

PubMed ID: 11855933

DOI: 10.1006/mgme.2001.3283

PubMed ID: 12815606

Title: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

PubMed ID: 12815606

DOI: 10.1002/humu.9159

PubMed ID: 12920074

Title: Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

PubMed ID: 12920074

DOI: 10.1136/jmg.40.8.605

PubMed ID: 15135428

Title: Childhood hypophosphatasia: a case report due to a novel mutation.

PubMed ID: 15135428

DOI: 10.1016/j.arcped.2004.02.018

PubMed ID: 15694177

Title: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

PubMed ID: 15694177

DOI: 10.1016/j.ymgme.2004.11.003

PubMed ID: 19500388

Title: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

PubMed ID: 19500388

DOI: 10.1186/1471-2350-10-51

PubMed ID: 22266140

Title: Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.

PubMed ID: 22266140

DOI: 10.1016/j.bbadis.2012.01.007

PubMed ID: 23039266

Title: A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.

PubMed ID: 23039266

DOI: 10.1111/febs.12022

PubMed ID: 23791648

Title: Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

PubMed ID: 23791648

DOI: 10.1016/j.bone.2013.06.010

PubMed ID: 23688511

Title: An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.

PubMed ID: 23688511

DOI: 10.1016/j.ymgme.2013.04.016

PubMed ID: 25982064

Title: Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.

PubMed ID: 25982064

DOI: 10.1016/j.ymgme.2015.05.006

PubMed ID: 30083035

Title: A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature.

PubMed ID: 30083035

DOI: 10.1297/cpe.27.179

PubMed ID: 32983484

Title: Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia.

PubMed ID: 32983484

DOI: 10.1002/ccr3.2962

PubMed ID: 33821301

Title: Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.

PubMed ID: 33821301

DOI: 10.1007/s00774-021-01219-0

Sequence Information:

  • Length: 524
  • Mass: 57305
  • Checksum: 71B45F17F6211900
  • Sequence:
  • MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD 
    GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG 
    VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH 
    SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE 
    KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN 
    RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG 
    QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG 
    YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV 
    PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.