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Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000478 Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000478.4, 294712525
Length 2606 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.
Product alkaline phosphatase, tissue-nonspecific isozyme isoform 1 precursor
Comment

Summary: 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].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

RefSeq NP_000469.3
CDS 258..1832
Misc Feature(1)393..1727
Misc Feature(2)order(393..401,447..452,459..461,468..473,525..527,
Misc Feature(3)411..1730
Misc Feature(4)order(435..437,582..587,768..770,774..776,807..809,
Exon (1)1..153
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (2)154..318
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (3)319..438
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (4)439..554
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (5)555..729
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (6)730..905
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (7)906..1049
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (8)1050..1119
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (9)1120..1254
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (10)1255..1446
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (11)1447..1566
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Exon (12)1567..2596
Gene:ALPL
Gene Synonym:AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Translation MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGD GMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCG VKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAH SADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIG QAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPG YKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLALALYPLSVLF
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Position Chain Variation Link
64+dbSNP:
64+c, gdbSNP:111601456
210+dbSNP:
210+c, tdbSNP:201284200
297+c, tdbSNP:139214514
301+c, gdbSNP:150849772
337+dbSNP:
337+a, gdbSNP:146412299
341+c, tdbSNP:144632001
355+c, tdbSNP:121918005
364+c, tdbSNP:199952414
367+c, tdbSNP:143358506
384+c, tdbSNP:148357203
465+dbSNP:
465+a, gdbSNP:147116628
468+c, tdbSNP:121918001
469+c, gdbSNP:121918003
478+a, gdbSNP:143885304
540+a, gdbSNP:139811782
557+dbSNP:
557+a, gdbSNP:191778470
564+a, gdbSNP:202075854
580+c, tdbSNP:121918015
587..595+, tgccggcacdbSNP:200166222
587+c, tdbSNP:1780316
603+a, gdbSNP:121918013
626+a, cdbSNP:201342272
628+a, gdbSNP:11586344
637+a, cdbSNP:146517700
655+c, gdbSNP:184095519
664+a, gdbSNP:121918011
670+a, gdbSNP:140167865
677+c, tdbSNP:148982201
693+a, gdbSNP:138587317
711+c, tdbSNP:200621180
712+a, gdbSNP:149344982
725+c, tdbSNP:143621566
742+g, tdbSNP:121918012
783+a, gdbSNP:121918019
786+a, gdbSNP:199669988
791+c, tdbSNP:201250289
792+a, gdbSNP:121918000
799+c, tdbSNP:199590449
828+a, gdbSNP:121918007
839+c, tdbSNP:112063292
863+a, gdbSNP:200597048
869+c, tdbSNP:141448778
877+a, cdbSNP:121918004
905+c, tdbSNP:201739155
925+dbSNP:
925+a, gdbSNP:199665722
939+c, gdbSNP:139121275
991+c, tdbSNP:142608957
1001+c, tdbSNP:188689330
1003+g, tdbSNP:121918018
1014+a, gdbSNP:151270365
1044+c, tdbSNP:3200254
1071+dbSNP:
1071+c, tdbSNP:121918020
1075+c, tdbSNP:148405563
1116+c, tdbSNP:141742288
1133+dbSNP:
1133+a, gdbSNP:3200255
1138+a, cdbSNP:121918002
1149+a, gdbSNP:121918017
1171+c, tdbSNP:146908399
1218+c, tdbSNP:200133602
1219+a, gdbSNP:138679161
1236+c, tdbSNP:121918010
1258+dbSNP:
1258+a, gdbSNP:121918009
1271+c, tdbSNP:147688908
1327+a, gdbSNP:202022405
1373+c, gdbSNP:200153944
1376+c, tdbSNP:112335417
1390+a, tdbSNP:121918008
1416+a, gdbSNP:150594290
1507+dbSNP:
1507+a, gdbSNP:121918014
1547+c, tdbSNP:200330153
1563+c, tdbSNP:121918006
1605+dbSNP:
1605+c, tdbSNP:138690664
1606+a, gdbSNP:150799088
1620+a, gdbSNP:149889416
1623+a, gdbSNP:121918016
1638+a, gdbSNP:34810399
1679+c, tdbSNP:12027316
1682+c, tdbSNP:183381346
1712+a, gdbSNP:188443578
1739+c, tdbSNP:142545037
1783+g, tdbSNP:79250591
1799+g, tdbSNP:3200256
1822+c, tdbSNP:34605986
1897+c, tdbSNP:1697405
1898+a, cdbSNP:78043671
1954+, cdbSNP:140511985
1958+a, gdbSNP:1697406
2036+c, tdbSNP:116162120
2065+a, cdbSNP:1772719
2137+c, tdbSNP:76073898
2220+c, tdbSNP:2242420
2265+a, gdbSNP:2242421
2292+a, gdbSNP:114552089
2312+a, cdbSNP:138564953
2407+c, tdbSNP:141554698
2469+a, gdbSNP:111947234
2495+c, gdbSNP:145193027
2517..2518+, tdbSNP:200291738
2517+a, tdbSNP:78801483
2518+, tdbSNP:71658394
2529+c, tdbSNP:41265991
2581+a, cdbSNP:139022638
Gene SymbolALPL
Gene SynonymAP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Chromosome1
Locus Map1p36.12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000478 Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001127501 Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001177520 Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 3, mRNA. On-demand $699.00 18
Title Calcifying human aortic smooth muscle cells express different bone alkaline phosphatase isoforms, including the novel B1x isoform .
Author Haarhaus,M., Arnqvist,H.J. and Magnusson,P.
Journal J. Vasc. Res. 50 (2), 167-174 (2013)
Title A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia .
Author Makita,S., Al-Shawafi,H.A., Sultana,S., Sohda,M., Nomura,S. and Oda,K.
Journal FEBS J. 279 (23), 4327-4337 (2012)
Title Characterization of different subpopulations from bone marrow-derived mesenchymal stromal cells by alkaline phosphatase expression .
Author Kim,Y.H., Yoon,D.S., Kim,H.O. and Lee,J.W.
Journal Stem Cells Dev. 21 (16), 2958-2968 (2012)
Title Lack of association of non-synonymous FUT2 and ALPL polymorphisms with venous thrombosis .
Author Tregouet,D.A., Sabater-Lleal,M., Bruzelius,M., Emmerich,J., Amouyel,P., Dartigues,J.F., Kieler,H. and Morange,P.E.
Journal J. Thromb. Haemost. 10 (8), 1693-1695 (2012)
Title Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth .
Author Rodrigues,T.L., Foster,B.L., Silverio,K.G., Martins,L., Casati,M.Z., Sallum,E.A., Somerman,M.J. and Nociti,F.H. Jr.
Journal J Endod 38 (7), 907-912 (2012)
Title Chemical nature of intestinal-type alkaline phosphatase in human kidney .
Author Nishihara,Y., Hayashi,Y., Adachi,T., Koyama,I., Stigbrand,T. and Hirano,K.
Journal Clin. Chem. 38 (12), 2539-2542 (1992)
Title Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia .
Author Henthorn,P.S., Raducha,M., Fedde,K.N., Lafferty,M.A. and Whyte,M.P.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (20), 9924-9928 (1992)
Title Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study .
Author Fedde,K.N. and Whyte,M.P.
Journal Am. J. Hum. Genet. 47 (5), 767-775 (1990)
Title Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene .
Author Matsuura,S., Kishi,F. and Kajii,T.
Journal Biochem. Biophys. Res. Commun. 168 (3), 993-1000 (1990)
Title Nucleotide sequence of the human liver-type alkaline phosphatase cDNA .
Author Kishi,F., Matsuura,S. and Kajii,T.
Journal Nucleic Acids Res. 17 (5), 2129 (1989)


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