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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23066 Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu23066C Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000478.4, 294712525
Length 1575 bp
Structure linear
Update Date 10-MAY-2014
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)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
74+c, tdbSNP:371922238
210+dbSNP:
210+c, tdbSNP:201284200
215+a, gdbSNP:371685734
297+c, tdbSNP:139214514
301+c, gdbSNP:150849772
335+dbSNP:
335+c, tdbSNP:375342528
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
596+c, tdbSNP:377453516
603+a, gdbSNP:121918013
626+a, cdbSNP:201342272
628+a, gdbSNP:11586344
637+a, cdbSNP:146517700
638+c, tdbSNP:368714904
655+c, gdbSNP:184095519
664+a, gdbSNP:121918011
670+a, gdbSNP:140167865
677+c, tdbSNP:148982201
693+a, gdbSNP:138587317
710+a, gdbSNP:377693871
711+c, tdbSNP:200621180
712+a, gdbSNP:149344982
725+c, tdbSNP:143621566
742+g, tdbSNP:121918012
767+c, tdbSNP:373912990
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
867+a, tdbSNP:374558572
869+c, tdbSNP:141448778
877+a, cdbSNP:121918004
905+c, tdbSNP:201739155
925+dbSNP:
925+a, gdbSNP:199665722
941+c, tdbSNP:369550359
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
1076+a, gdbSNP:372247799
1115+a, gdbSNP:375027534
1116+c, tdbSNP:141742288
1133+dbSNP:
1133+a, gdbSNP:3200255
1138+a, cdbSNP:121918002
1149+a, gdbSNP:121918017
1171+c, tdbSNP:146908399
1175+c, tdbSNP:373257447
1180+c, tdbSNP:376221105
1192..1194+, tggdbSNP:370850214
1218+c, tdbSNP:200133602
1219+a, gdbSNP:138679161
1236+c, tdbSNP:121918010
1258+dbSNP:
1258+a, gdbSNP:121918009
1259+c, tdbSNP:370122334
1271+c, tdbSNP:147688908
1327+a, gdbSNP:202022405
1360+c, tdbSNP:368809478
1373+c, gdbSNP:200153944
1376+c, tdbSNP:112335417
1390+a, tdbSNP:121918008
1416+a, gdbSNP:150594290
1428+c, tdbSNP:371243939
1433+c, gdbSNP:375767924
1507+dbSNP:
1507+a, gdbSNP:121918014
1547+c, tdbSNP:200330153
1563+c, tdbSNP:121918006
1573+dbSNP:
1573+a, gdbSNP:368408859
1605+c, tdbSNP:138690664
1606+a, gdbSNP:150799088
1610+c, tdbSNP:377110098
1620+a, gdbSNP:149889416
1622+c, tdbSNP:370212283
1623+a, gdbSNP:121918016
1637+c, tdbSNP:371984578
1638+a, gdbSNP:34810399
1673+c, tdbSNP:369433931
1676+a, cdbSNP:373417343
1677+a, gdbSNP:376354718
1679+c, tdbSNP:12027316
1682+c, tdbSNP:183381346
1712+a, gdbSNP:188443578
1739+c, tdbSNP:142545037
1783+g, tdbSNP:79250591
1797+a, gdbSNP:367657406
1798+c, tdbSNP:371373128
1799+g, tdbSNP:3200256
1814+c, tdbSNP:376020180
1816+, tdbSNP:387906525
1819+a, gdbSNP:368326384
1820+c, gdbSNP:370978556
1821+a, gdbSNP:372315234
1822+c, tdbSNP:34605986
1858+a, gdbSNP:375281601
1892+c, gdbSNP:367637559
1897+a, c, tdbSNP:1697405
1898+a, cdbSNP:78043671
1898+, cdbSNP:371832452
1954+, cdbSNP:140511985
1958+a, gdbSNP:1697406
2036+c, tdbSNP:116162120
2049+c, tdbSNP:373909118
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
2529+c, tdbSNP:41265991
complement(2581)-c, adbSNP:139022638
Gene SymbolALPL
Gene SynonymAP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Chromosome1
Locus Map1p36.12
Title Clinical and genetic aspects of hypophosphatasia in Japanese patients .
Author Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S and Yamaguchi S.
Journal Arch. Dis. Child. 99 (3), 211-215 (2014)
Title Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype .
Author Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ and Nociti FH Jr.
Journal Bone 56 (2), 390-397 (2013)
Title Soluble ecto-5'-nucleotidase (5'-NT), alkaline phosphatase, and adenosine deaminase (ADA1) activities in neonatal blood favor elevated extracellular adenosine .
Author Pettengill M, Robson S, Tresenriter M, Millan JL, Usheva A, Bingham T, Belderbos M, Bergelson I, Burl S, Kampmann B, Gelinas L, Kollmann T, Bont L and Levy O.
Journal J. Biol. Chem. 288 (38), 27315-27326 (2013)
Title Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan .
Author Low SK, Chung S, Takahashi A, Zembutsu H, Mushiroda T, Kubo M and Nakamura Y.
Journal Cancer Sci. 104 (8), 1074-1082 (2013)
Title Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia .
Author Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q and Yu Y.
Journal Cell. Physiol. Biochem. 32 (3), 635-644 (2013)
Title Hypophosphatasia .
Author Mornet,E. and Nunes,M.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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 PS, Raducha M, Fedde KN, Lafferty MA and Whyte MP.
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 KN and Whyte MP.
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)

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