Details for: ALPL
Associated with
Other Information
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
PubMed ID: 3165380
Title: Structure of the human liver/bone/kidney alkaline phosphatase gene.
PubMed ID: 3165380
PubMed ID: 2928120
Title: Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.
PubMed ID: 2928120
PubMed ID: 9747027
Title: A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
PubMed ID: 9747027
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
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
PubMed ID: 17566972
Title: Computational approach for identification and characterization of GPI-anchored peptides in proteomics experiments.
PubMed ID: 17566972
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
PubMed ID: 25775211
Title: Functional significance of calcium binding to tissue-nonspecific alkaline phosphatase.
PubMed ID: 25775211
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
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
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
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
PubMed ID: 8406453
Title: A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
PubMed ID: 8406453
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
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
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
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
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
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
PubMed ID: 11479741
Title: A molecular approach to dominance in hypophosphatasia.
PubMed ID: 11479741
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
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
PubMed ID: 12162492
Title: Kinetic characterization of hypophosphatasia mutations with physiological substrates.
PubMed ID: 12162492
PubMed ID: 11999978
Title: Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
PubMed ID: 11999978
PubMed ID: 11855933
Title: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
PubMed ID: 11855933
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
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
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
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
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
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
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
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
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.