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ALPL Gene

protein-coding GIFtS: 71

GC01P021708

alkaline phosphatase, liver/bone/kidney
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HOPS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AP-TNAP ^², ³
EC 3.1.3.1 ^³
FLJ40094 ^²
FLJ93059 ^²
HOPS ^², ⁵
MGC161443 ^²
MGC167935 ^²
OTTHUMP00000002971 ^²
OTTHUMP00000002972 ^²
TNAP ^²
TNSALP ^¹, ², ³, ⁵
glycerophosphatase ^²

Descriptions
Alkaline phosphatase liver/bone/kidney isozyme ^³
alkaline phosphatase, liver/bone/kidney ^²
alkaline phosphatase, tissue-nonspecific isozyme ^²
alkaline phosphomonoesterase ^²
liver/bone/kidney-type alkaline phosphatase ^²
tissue-nonspecific ALP ^²
tissue-nonspecific alkaline phosphatase ^²

External Ids
HGNC: 438¹
Entrez Gene: 249²
UniProtKB: P05186³
Ensembl: ENSG00000162551⁷

Search outside databases for aliases for ALPL gene

Previous GC identifers: GC01P021405 GC01P020871 GC01P020981 GC01P021305 GC01P021581

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ALPL:

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, which encode the same

protein, have been identified for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186

Function: This isozyme may play a role in skeletal mineralization

Gene Wiki entry for ALPL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ALPL gene

Entrez Gene cytogenetic band: 1p36.12 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.12

ALPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P021708: (about GC identifiers)

Start:	21,708,445 bp from pter
End:	21,777,492 bp from pter
Size:	69,048 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_004610.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186 (See protein sequence)

Recommended Name: Alkaline phosphatase, tissue-nonspecific isozyme precursor

Size: 524 amino acids; 57305 Da

Cofactor: Binds 1 magnesium ion (By similarity)

Cofactor: Binds 2 zinc ions (By similarity)

Subunit: Homodimer

Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor

Miscellaneous: In most mammals there are four different isozymes: placental, placental-like,

intestinal and tissue non-specific (liver/bone/kidney)

Secondary accessions: A1A4E7 B2RMP8 O75090 Q2TAI7 Q59EJ7 Q5BKZ5 Q5VTG5 Q6NZI8 Q8WU32 Q9UBK0

Post-translational modifications:

Glycosylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000469.3 NP_001120973.1

ENSEMBL proteins:

ENSP00000363973 ENSP00000363962 ENSP00000363965 ENSP00000363963

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for ALPL (Alkaline Phosphatase)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Alkaline phosphatase, Alkaline Phosphatase, Tissue Non-Specific, Bone Alkaline Phosphatase, Alkaline Phosphatase )
	Human Recombinant Proteins from Abnova (ALPL)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18029348
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0031225	anchored to membrane	IEA	--

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Antibodies for ALPL:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ALPL
	R&D Systems Antibodies for ALPL (Alkaline Phosphatase)
	Antibodies from Abcam (Alkaline phosphatase, Alkaline Phosphatase, Tissue Non-Specific, Bone Alkaline Phosphatase, Alkaline Phosphatase ), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ALPL)
	Novus Biologicals Antibodies for ALPL

Assays for ALPL:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P05186

ProtoNet protein and cluster: P05186

1 Blocks protein family: IPB001952 Alkaline phosphatase

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186

Similarity: Belongs to the alkaline phosphatase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ALPL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ALPL)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000478

Applied Biosystems Silencer® siRNAs for ALPL

Sigma-Aldrich siRNA and siRNA Panels for ALPL

Sigma-Aldrich shRNA for ALPL

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ALPL
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000478
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000478
untagged cDNA clones in CMV expression vector (see all 3): NM_000478

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001127501

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186

Function: This isozyme may play a role in skeletal mineralization

Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate

Enzyme Number (IUBMB): EC 3.1.3.1

Genatlas biochemistry entry for ALPL:

phosphatase alkaline,liver/bone/kidney,non specific

15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Alpl) (see all 17 ):

	adipose tissue	behavior/neurological	craniofacial	digestive/alimentary
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	limbs/digits/tail	muscle	nervous system	reproductive system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0004035	alkaline phosphatase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0016787	hydrolase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for ALPL (Your Favorite Gene powered by Ingenuity)

Folate Biosynthesis

GeneDecks ALPL for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ALPL

5/77 Interacting proteins for ALPL (ENSP00000363965³) via UniProtKB, MINT, and/or STRING (see all 77 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENPP1	ENSP00000350964³	STRING (score=.977)
BMP2	ENSP00000368104³	STRING (score=.95)
RUNX2	ENSP00000352514³	STRING (score=.949)
LNPEP	ENSP00000369199³	STRING (score=.928)
BMP6	ENSP00000283147³	STRING (score=.92)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	9781036
GO:0001503	ossification	IEA	--
GO:0008152	metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ALPL
8 Novoseek chemical compound relationships for ALPL gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphoethanolamine	80.41	8	7706447 (3), 17539739 (1), 9814474 (1), 16205618 (1)
pyrophosphate	75.92	17	17906411 (3), 16546821 (2), 17241478 (1), 12162492 (1) (see all 9)
alizarin	53.63	3	19302812 (1), 18027839 (1)
phenylalanine	17.59	1	18422967 (1)
oligonucleotide	14.30	2	10502677 (1), 9914325 (1)
calcium	9.15	9	9403706 (2), 12944372 (1), 11395499 (1), 17669706 (1)
sucrose	0.00	2	10839996 (1), 18422967 (1)
histidine	0.00	1	10502677 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ALPL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ALPL)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000478

Sigma-Aldrich siRNA and siRNA Panels for ALPL

Sigma-Aldrich shRNA for ALPL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000478 NM_001127501

REFSEQ mRNAs for ALPL gene (2 alternative transcripts):

NM_000478.3 NM_001127501.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000478 NM_001127501

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000478
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000478
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000478

Additional cDNA sequence:

AB011406.1 AB012643.1 AB209814.1 AK097413.1 AK293184.1 AK295608.1 AK298085.1 AK312667.1

BC021289.2 BC066116.1 BC090861.1 BC110909.1 BC126165.1 BC136325.1 S76738.1

10 DOTS entries:

DT.91783068 DT.97803014 DT.95278667 DT.95278658 DT.95278671 DT.121436718 DT.91783108 DT.121436683

DT.99963505 DT.121436696

24/142 AceView cDNA sequences (see all 142 ):

X95994 BE466536 BF850182 BQ636503 Y07598 R72822 BF849501 BQ636473

BF849484 S76738 BC021289 AI968129 BX956183 BI818885 BQ639223 BQ056305

AK097413 BC066116 AU141847 BQ896667 CK904725 BI554198 AU127665 AV692891

highest scoring ESTs for ALPL:

AB011406 AB012643 BC021289 BC066116 BI554198 X14174 AA203177 AA219602 AA689343 AA761076

Unigene Cluster for ALPL:

Alkaline phosphatase, liver/bone/kidney

Hs.75431 [show with all ESTs]

Unigene Representative Sequence: NM_000478

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for ALPL

4 Ensembl transcripts including schematic representations:

ENST00000374840 ENST00000374829 ENST00000374832 ENST00000374830

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ALPL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ALPL

¹ / ² / ³

4 probe-sets matching ALPL gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36623_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AB011406	1.00	1.00	1.00	1
215783_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X14174	0.80	1.00	0.91	1
1557924_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215783_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ALPL for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCCCTGTCCC

SOURCE GeneReport for Unigene cluster: Hs.75431
Expression variation in blood from EXPOLDB for ALPL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ALPL gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ALPL¹	--	alkaline phosphatase, liver/bone/kidney	88.8(n) 89.13(a)	403548 XM_535374.2 XP_535374.2
cow (Bos taurus)	ALPL¹	--	alkaline phosphatase, liver/bone/kidney	88.68(n) 90.08(a)	280994 NM_176858.2 NP_789828.2
rat (Rattus norvegicus)	Alpl¹	--	alkaline phosphatase, liver/bone/kidney	85.62(n) 90.46(a)	25586 NM_013059.1 NP_037191.1
mouse (Mus musculus)	Alpl^{1, 5}	4 (70.20 cM)⁵	alkaline phosphatase, liver/bone/kidney^{1, 5}	84.29(n)¹ 89.89(a)¹	11647¹ NM_007431.1¹ NP_031457.1¹ AB473959⁵ AF285233⁵ (see all 22)
chicken (Gallus gallus)	ALPL¹	--	alkaline phosphatase, liver/bone/kidney	72.22(n) 74.24(a)	396317 XM_423297.2 XP_423297.2

About this table Species with no ortholog for ALPL

ENSEMBL Gene Tree for ALPL

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ALPL gene

ALPPL2² ALPP² ALPI²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/565 NCBI SNPs in ALPL are shown (see all 565 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 172)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1697406^1,2	A,C,F,H,O	21776854(+)	`ACCCAA/GGAAAC`	2	--	ut3¹ ese³		14		MN EA NA EU WA	1968
	rs1772720^1,2	A,C,F,H	21777594(+)	`AGGGTG/AGAAAG`	1	--	ng3¹		8		EU EA WA	822
	rs2242421^1,2	A,C,F,H	21777161(+)	`CTACAA/GTGCTC`	2	--	ut3¹ ese³		13		EA MN NA EU WA	2648
	rs2242420^1,2	A,C,F,H	21777116(+)	`TGACCC/TTCCCA`	2	--	ut3¹		5		EA EU WA	1920
	rs1772719^1,2	A,C,F,H	21776961(+)	`GGCCAA/CCAGGG`	2	--	ut3¹ ese³		8		MN EU EA WA NA	692
	rs13376350^1,2	A,F,H	21706932(+)	`GATGgT/Catttc`	1	--	ng5¹		4		EU EA WA	418
	rs1697405^1,2	A,F	21776793(+)	`CCCCCC/TCTCAA`	2	--	ut3¹ ese³ trp³		1		MN	184
	rs11586344^1,2	C	21762263(+)	`GGCCAA/GTGAGG`	2	N/S	mis¹ ese³		0	--	--	--	--
	rs34605986^1,2	F	21776718(+)	`GAGCGT/CCCTGT`	2	A/V	mis¹		1		NA	70
	rs1780316^1,2	A,C,F,H	21762222(+)	`GACAGC/TGCCGG`	2	S/S	syn¹ ese³		12		NA EU EA WA	1016

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HapMap Linkage Disequilibrium images for ALPL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 171760 disorders: 241500 241510 146300

UniProtKB/Swiss-Prot: PPBT_HUMAN, P05186

Defects in ALPL are a cause of hypophosphatasia infantile (hypophosphatasia) [MIM:241500];

an inherited metabolic bone disease characterized by defective skeletal mineralization. Four

hypophosphatasia 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.

Patients with only premature loss of deciduous teeth, but with no bone disease are regarded as

having odontohypophosphatasia (odonto)

Defects in ALPL are a cause of hypophosphatasia childhood (hypophosphatasia) [MIM:241510]

Defects in ALPL are a cause of hypophosphatasia adult type (hypophosphatasia) [MIM:146300]

10/22 Novoseek disease relationships for ALPL gene (see all 22 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hypophosphatasia	98.92	205	9403706 (5), 1409720 (4), 1360878 (4), 10737975 (3) (see all 84)
hypophosphatasia, childhood	95.81	5	12638946 (1), 15671102 (1), 9781036 (1), 10495141 (1)
hypophosphatasia, infantile	95.37	10	16769381 (2), 10834525 (1), 8096553 (1), 17395561 (1) (see all 8)
hypophosphatasia, mild	85.54	2	10679946 (1)
anaplastic meningioma	70.85	2	9432670 (1), 9258258 (1)
rickets	62.52	5	11547844 (1), 12674323 (1), 17395561 (1), 9403706 (1)
osteomalacia	62.52	3	16815919 (1), 9403706 (1)
skeletal disorder	60.33	8	17539739 (1), 8060771 (1), 18724009 (1), 15824850 (1)
cleidocranial dysplasia	49.64	1	12424591 (1)
meningioma	46.27	13	9258258 (3), 10589773 (3), 9432670 (1), 16040297 (1) (see all 5)

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GeneTests: ALPL

Hypophosphatasia

Human Gene Mutation Database: ALPL
Genetic Association Database: ALPL
Human Genome Epidemiology Navigator: ALPL (10 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/204 PubMed articles for ALPL gene (see all 204 ):

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. (PubMed id 10834525)^{1, 3, 4, 6} Mochizuki H.... Ozono K. (2000)
Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. (PubMed id 3532105)^{2, 3, 4} Weiss M.J....Harris H. (1986)
Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. (PubMed id 15824850)^{1, 3, 6} Goseki-Sone M....Hosoi T. (2005)
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. (PubMed id 11855933)^{1, 3, 4} Mumm S....Whyte M.P. (2002)
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)^{1, 3, 4} Sergi C.... Voigtlaender T. (2001)
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. (PubMed id 11834095)^{1, 3, 4} Watanabe H....Ishikawa I. (2001)
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. (PubMed id 9781036)^{1, 3, 4} Mornet E.... Simon-Bouy B. (1998)
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. (PubMed id 1409720)^{1, 3, 4} Henthorn P.S.... Whyte M.P. (1992)
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. (PubMed id 11438998)^{1, 3, 4} Taillandier A.... Mornet E. (2001)
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)^{1, 3, 4} Taillandier A.... Mornet E. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 249	HGNC: 438	AceView: ALPL	Ensembl:ENSG00000162551	euGenes: HUgn249
ECgene: ALPL	H-InvDB: ALPL

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for ALPL	Genetics and Cytogenetics in Oncology and Haematology
ALPL	http://www.sesep.uvsq.fr/Database.html
GeneReviews	http://www.genetests.org/query?gene=ALPL
Wikipedia	http://en.wikipedia.org/wiki/Alkaline_phosphatase

Licensable Technologies for ALPL
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ALPL:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ALPL-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ALPL		Antibodies for ALPL
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ALPL		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ALPL)
	Antibodies (ALPL)
	Chimera RNAi (ALPL)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Alkaline phosphatase, Alkaline Phosphatase, Tissue Non-Specific, Bone Alkaline Phosphatase, Alkaline Phosphatase )
	Antibodies (Alkaline phosphatase, Alkaline Phosphatase, Tissue Non-Specific, Bone Alkaline Phosphatase, Alkaline Phosphatase )

Search OriGene for ALPL

Search Tocris compounds for ALPL

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ALPL

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ALPL Gene at Home site.
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ALPL Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for ALPL

Summaries
for ALPL

Genomic Location
for ALPL

Proteins
for ALPL

Protein Domains/
Families
for ALPL

Gene Function
for ALPL

Pathways & Interactions
for ALPL

Drugs & Compounds
for ALPL

Transcripts
for ALPL

Expression
for ALPL

Orthologs
for ALPL

Paralogs
for ALPL

SNPs/Variants
for ALPL

Disorders & Mutations
for ALPL

Medical News
for ALPL

Publications
for ALPL

Search for ALPL

Genome Databases showing ALPL

Other Databases showing ALPL

Specialized Databases showing ALPL

Licensable Technologies
for ALPL

Services
for ALPL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ALPL (Gene Symbol)
AP-TNAP
EC 3.1.3.1
FLJ40094
FLJ93059
HOPS
MGC161443
MGC167935
OTTHUMP00000002971
OTTHUMP00000002972
TNAP
TNSALP
glycerophosphatase
Alkaline phosphatase liver/bone/kidney isozyme
alkaline phosphatase, liver/bone/kidney
alkaline phosphatase, tissue-nonspecific isozyme
alkaline phosphomonoesterase
liver/bone/kidney-type alkaline phosphatase
tissue-nonspecific ALP
tissue-nonspecific alkaline phosphatase

ALPL Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ALPL

Summariesfor ALPL

Genomic Locationfor ALPL

Proteinsfor ALPL

Protein Domains/Familiesfor ALPL

Gene Functionfor ALPL

Pathways & Interactionsfor ALPL

Drugs & Compoundsfor ALPL

Transcriptsfor ALPL

Expression for ALPL

Orthologsfor ALPL

Paralogsfor ALPL

SNPs/Variantsfor ALPL

Disorders & Mutationsfor ALPL

Medical Newsfor ALPL

Publicationsfor ALPL

Search for ALPL

Genome Databases showing ALPL

Other Databases showing ALPL

Specialized Databases showing ALPL

Licensable Technologiesfor ALPL

Servicesfor ALPL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ALPL

Summaries
for ALPL

Genomic Location
for ALPL

Proteins
for ALPL

Protein Domains/
Families
for ALPL

Gene Function
for ALPL

Pathways & Interactions
for ALPL

Drugs & Compounds
for ALPL

Transcripts
for ALPL

Expression
for ALPL

Orthologs
for ALPL

Paralogs
for ALPL

SNPs/Variants
for ALPL

Disorders & Mutations
for ALPL

Medical News
for ALPL

Publications
for ALPL

Licensable Technologies
for ALPL

Services
for ALPL