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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALPP Gene

protein-coding GIFtS: 68
GCID: GC02P233244

alkaline phosphatase, placental

(Previous names: alkaline phosphatase, placental (Regan isozyme) )

Explore 228 diseases affiliated with
ALPP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Alkaline Phosphatase, Placental¹ ²		ALP²
Alkaline Phosphatase Regan Isozyme² ³		PALP²
Placental Alkaline Phosphatase 1² ³		Alkaline Phosphatase, Placental Type²
PLAP² ³		Alkaline Phosphomonoesterase²
PLAP-1² ³		Glycerophosphatase¹
EC 3.1.3.1³ ⁸		Regan Isozyme²
Alkaline Phosphatase, Placental (Regan Isozyme)¹

External Ids:	HGNC: 439¹	Entrez Gene: 250²	Ensembl: ENSG00000163283⁷	OMIM: 171800⁵	UniProtKB: P05187³

Export aliases for ALPP gene to outside databases

Previous GC identifers: GC02P231300 GC02P231972 GC02P233207 GC02P233445 GC02P233068 GC02P232951 GC02P225094

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

Entrez Gene summary for ALPP:

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, also

referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the

intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline

phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In

addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline

phosphatase have been well characterized. (provided by RefSeq, Jul 2008)

Gene Wiki entry for ALPP (Placental alkaline phosphatase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ALPP gene promoter:
AML1a GCNF CUTL1 NF-kappaB SRY POU2F1 POU2F1a NF-kappaB2 TGIF NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALPP promoter sequence

Search SABiosciences Chromatin IP Primers for ALPP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALPP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37.1

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P233244: view genomic region (about GC identifiers)

Start:	233,243,244 bp from pter	End:	233,247,599 bp from pter
Size:	4,356 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187 (See protein sequence)

Recommended Name: Alkaline phosphatase, placental type precursor

Size: 535 amino acids; 57954 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)

Sequence caution: Sequence=AAA51708.1; Type=Erroneous initiation;

6/8 PDB 3D structures from and Proteopedia for ALPP (see all 8):

1EW2 (3D)

1ZEB (3D)

1ZED (3D)

1ZEF (3D)

2GLQ (3D)

3MK0 (3D)

Secondary accessions: P05188 P06861 Q53S78 Q96DB7

Explore the universe of human proteins at neXtProt for ALPP: NX_P05187

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P05187

4/17 DME Specific Peptides for ALPP (P05187) (see all 17)

TTRGNEV

VEGGRID

NLVQEWL

GVVTTTR

ALPP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001623.3

ENSEMBL proteins:

ENSP00000375881

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	OriGene Purified Protein: ALPP OriGene Protein Over-expression Lysate: ALPP OriGene Custom Protein Services for ALPP
	GenScript Custom Purified and Recombinant Proteins Services for ALPP
	Novus Biologicals ALPP Protein Novus Biologicals ALPP Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ALPP
	Uscn Proteins for ALPP

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0009986	cell surface	IDA	15907827
GO:0016021	integral to membrane	IEA	--
GO:0031225	anchored to membrane	IEA	--

ALPP for ontologies About GeneDecksing

ALPP Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ALPP
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	Novus Biologicals ALPP Antibodies
	Abcam antibodies for ALPP
	Uscn Antibodies for ALPP
	ThermoFisher Antibodies for ALPP

Assay Products for ALPP:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for ALPP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ALPP

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

ALPP for domains About GeneDecksing

4 InterPro domains/families:

IPR001952 Alkaline_phosphatase

IPR017849 Alkaline_Pase-like_a/b/a

IPR017850 Alkaline_phosphatase_core

IPR018299 Alkaline_phosphatase_AS

Graphical View of Domain Structure for InterPro Entry P05187

ProtoNet protein and cluster: P05187

1 Blocks protein family: IPB001952 Alkaline phosphatase

UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187

Similarity: Belongs to the alkaline phosphatase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187

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

Genatlas biochemistry entry for ALPP:

phosphatase alkaline,placental (Regan isozyme)

Enzyme Number (IUBMB): EC 3.1.3.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone: ALPP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALPP
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ALPP
		SwitchGear 3'UTR luciferase reporter plasmid: ALPP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALPP OriGene shRNA RFP: ALPP OriGene siRNA: ALPP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALPP

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ALPP

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALPP (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALPP OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ALPP (NM_001632)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALPP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ALPP
		Search LifeMap BioReagents cell lines for ALPP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALPP

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004035	alkaline phosphatase activity	NAS	3042787
GO:0046872	metal ion binding	IEA	--

ALPP for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ALPP:

Decreased focal adhesion (FA)

Decreased nuclei size in G2M

Animal Models:
Mouse knock-out Alppl2^tm1Jlm for ALPP
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Alppl2):

embryogenesis

growth/size

mortality/aging

normal

reproductive system

ALPP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

NAD metabolism

NAD metabolism

1.00

NAD metabolism

1.00

ATP/ITP metabolism

ATP/ITP metabolism

1.00

ATP/ITP metabolism

0.98

Folate biosynthesis

Folate biosynthesis

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for ALPP

	NAD metabolism
	ATP/ITP metabolism

2 GeneGo (Thomson Reuters) Pathways for ALPP

	NAD metabolism
	ATP/ITP metabolism

2 Kegg Pathways (Kegg details for ALPP):

	Folate biosynthesis
	Metabolic pathways

ALPP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ALPP

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/51 Interacting proteins for ALPP (P05187^{2, 3} ENSP00000375881⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PIGK	Q92643²^,³, ENSP00000359848⁴	MINT-8216721 I2D: score=3 STRING: ENSP00000359848
GPAA1	O43292²^,³, ENSP00000347206⁴	MINT-8216714 I2D: score=1 STRING: ENSP00000347206
ASPSCR1	Q9BZE9³, ENSP00000302176⁴	I2D: score=1 STRING: ENSP00000302176
FAF1	Q9UNN5³, ENSP00000379457⁴	I2D: score=1 STRING: ENSP00000379457
NSFL1C	Q9UNZ2³, ENSP00000216879⁴	I2D: score=1 STRING: ENSP00000216879

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALPP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALPP

8 HMDB Compounds for ALPP About this table

Compound	Synonyms	CAS #	PubMed Ids
4-Nitrophenol	1-Hydroxy-4-nitrobenzene (see all 8)	100-02-7	--
7,8-Dihydroneopterin	2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)	1218-98-0	--
Dihydroneopterin triphosphate	2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)	20574-65-6	--
Dihydroxyacetone	1,3-Dihydroxy-2-propanone (see all 21)	96-26-4	--
Dihydroxyacetone phosphate	1,3-Dihydroxy-2-propanone phosphate (see all 17)	57-04-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for ALPP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
METHYL-PHOSPHONIC ACID MONO-(4-NITRO-PHENYL) ESTER	--	--	target	--	10592235

10/136 Novoseek chemical compound relationships for ALPP gene (see all 136) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alizarin	80.9	38	16546826 (2), 16845965 (2), 18228270 (2), 16530029 (1) (see all 28)
p-nitrophenyl phosphate	73.7	33	15895474 (2), 11816056 (1), 8222223 (1), 8034777 (1) (see all 22)
2-amino-2-methyl-1-propanol	73.4	7	11256805 (1), 17961309 (1), 15719705 (1), 11922923 (1) (see all 6)
akermanite	71.4	4	16904740 (1), 19545889 (1)
aspartate	70.6	149	2396080 (1), 9817078 (1), 11236810 (1), 15625352 (1) (see all 99)
deoxypyridinoline	69.9	72	15050907 (4), 8911707 (3), 14727010 (2), 15166484 (2) (see all 34)
hydroxyapatite	69.3	81	12740096 (3), 19376000 (3), 18270806 (2), 19012271 (2) (see all 40)
alanine	68.2	144	2396080 (1), 8425894 (1), 9793665 (1), 9817078 (1) (see all 99)
pyridinoline	64.1	36	19460508 (2), 10541322 (1), 15860920 (1), 9738702 (1) (see all 17)
amppd	63.6	7	18402780 (1), 18452138 (1), 16643808 (1), 17719901 (1)

Search CenterWatch for drugs/clinical trials and news about ALPP / PPB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ALPP gene:

NM_001632.3

Unigene Cluster for ALPP:

Alkaline phosphatase, placental

Hs.284255 [show with all ESTs]

Unigene Representative Sequence: NM_001632

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000392027(uc002vsq.3) ENST00000474529 ENST00000485563

miRNA Products:		OriGene 3'-UTR Clone: ALPP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALPP
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALPP OriGene shRNA RFP: ALPP OriGene siRNA: ALPP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALPP

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALPP (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALPP OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ALPP (NM_001632)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALPP

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALPP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALPP

Additional cDNA sequence:

AF217992.1 AK075432.1 BC009647.1 BC068501.1 BC094743.1 M12551.1 M14169.1 M14170.1

7 DOTS entries:

DT.100687963 DT.100748673 DT.87016630 DT.95156278 DT.95156286 DT.121006034 DT.95156280

24/152 AceView cDNA sequences (see all 152):

BX439339 BC068501 CR621490 AF217992 BM742455 M14169 AL553983 BM742176

AL553521 BX095665 BM744140 AL554586 R31098 CR599162 BE549393 X55958

AK075432 AL540746 D58627 J04948 BX458398 BG435234 BX343738 T29404

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ALPP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAATTTCAG

About this image

ALPP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Induced pluripotent stem cell line 201B6 (Induced Pluripotent Stem Cell)

Early Embryo, Fibroblast

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ALPP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALPP

SOURCE GeneReport for Unigene cluster: Hs.284255

SABiosciences Custom PCR Arrays for ALPP

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALPP Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ALPP
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALPP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALPP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ALPP gene from 5/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100859876¹	intestinal-type alkaline phosphatase-like	68.75(n) 66.02(a)		100859876 XM_003641761.1 XP_003641809.1
lizard (Anolis carolinensis)	Reptilia	--	--	60(a)	1 → many	GL343304.1(677973-694404)
zebrafish (Danio rerio)	Actinopterygii	zgc:110409⁶ CABZ01061890.1⁶	--	55(a) 51(a)	1 ↔ many possible ortholog	22(41823911-41838077) Zv9_NA903(29242-50744)
fruit fly (Drosophila melanogaster)	Insecta	CG5656³ CG8147¹	alkaline phosphatase³ CG8147¹	44(a) (best of 11)³ 54.15(n)¹ 45.06(a)¹		78D2³ 41135¹ NM_141640.4¹ NP_649897.4¹
E. coli (Escherichia coli)	Gamma proteobacteria	phoA⁶	bacterial alkaline phosphatase	27(a)	1 → many	Chromosome(400971-402386)

ENSEMBL Gene Tree for ALPP (if available)
TreeFam Gene Tree for ALPP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ALPP gene

ALPL² ALPPL2² ALPI²

3 SIMAP similar genes for ALPP using alignment to 1 protein entry: PPB1_HUMAN:

ALPPL2 ALPI ALPL

ALPP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187

Polymorphism: Placental ALP is highly polymorphic, there are at least three common alleles

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78110461^1,2	F,	--	225092369(+)	`AACCAC/TGGATG`	1	--	us2k¹		1	WA	118
rs7425615^1,2	C,F,	--	225092640(+)	`aaaaaA/Tttagc`	1	--	us2k¹		1	WA	118
rs79379626^1,2	F,	--	225092730(+)	`CCACCG/ACAGTC`	1	--	us2k¹		1	WA	118
rs6742864^1,2	C,F,H,	--	225093141(+)	`ATCAAT/CGAATT`	1	--	us2k¹ tfbs³		6	NS NA WA	732
rs76944674^1,2		--	225093361(+)	`GGCCTG/AAGGGG`	1	--	us2k¹		2	CSA WA	120
rs113816277^1,2	C,	--	225093644(+)	`CACAGC/ATGCCC`	1	--	us2k¹		2	WA	120
rs3762525^1,2	C,F,H,,	--	225093706(+)	`CAAGGT/CAAGAT`	1	--	us2k¹		5	NA WA EA	364
rs3762526^1,2	C,F,H,,	--	225093707(+)	`AAGGTA/CAGATG`	1	--	us2k¹		9	NS EA NA WA	782
rs111372984^1,2		--	225093769(+)	`ACAGGA/C/GCCCAG`	1	--	us2k¹		1	CSA	2
rs61282047^1,2	C,	--	225093925(+)	`CTTGTT/CCCACA`	1	--	us2k¹		4	WA NA EA	360

HapMap Linkage Disequilibrium report for ALPP (233243244 - 233247599 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for ALPP
6 CNVs: 53126 1607 53765 8398 2427 22943

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ALPP for disorders           About GeneDecksing

OMIM gene information: 171800    OMIM disorders: --

20/228 diseases for ALPP (see all 228):    About MalaCards

ossification of posterior longitudinal ligament of spine urethral intrinsic sphincter deficiency 21-hydroxylase deficiency rosai-dorfman disease

placental site trophoblastic tumor waardenburg syndrome type i spinal cord injury desmoplastic small round cell tumor

central nervous system germinoma lymphoepithelioma-like carcinoma b-cell non-hodgkin lymphoma hypophosphatasia, infantile

sertoli-leydig cell tumor hypersensitivity reaction type ii disease osteitis fibrosa non-hodgkin lymphoma

waardenburg's syndrome hypophosphatasia sertoli cell tumor creatine phosphokinase

7 diseases from the University of Copenhagen DISEASES database for ALPP:

Seminoma Testicular cancer Brain germinoma Hypophosphatasia

Urethral intrinsic sphincter deficiency Dysgerminoma Central nervous system germinoma

10/92 Novoseek disease relationships for ALPP gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypophosphatasia	84.3	29	10451522 (2), 9536930 (2), 2079838 (1), 8675582 (1) (see all 22)
seminoma	78.7	115	2273701 (5), 8653285 (4), 1646453 (3), 17629966 (3) (see all 43)
alkaline phosphatase, elevated serum	78.5	17	19212310 (1), 7723166 (1), 7780263 (1), 11142449 (1) (see all 16)
germinoma	69.9	24	19106497 (2), 1723169 (2), 1966857 (1), 8615089 (1) (see all 14)
hypophosphatasia, infantile	65	1	19631305 (1)
osteosarcoma	63.6	42	1651438 (2), 1702922 (2), 9914326 (2), 1611300 (1) (see all 29)
yolk sac tumor	63.3	4	10469400 (1), 1690172 (1), 8757478 (1)
calcification	61.6	89	16958693 (3), 15974530 (3), 11401534 (3), 18160010 (2) (see all 61)
biliary cirrhosis primary	61	6	1934501 (1), 1541936 (1), 18084701 (1), 10535881 (1) (see all 6)
bone diseases	57.7	17	1458597 (1), 1940065 (1), 9283233 (1), 7923809 (1) (see all 14)

Genetic Association Database (GAD): ALPP
Human Genome Epidemiology (HuGE) Navigator: ALPP (1 document)

Export disorders for ALPP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ALPP gene, integrated from 9 sources (see all 1606):
(articles sorted by number of sources associating them with ALPP)

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Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids. (PubMed id 3461452)^{1, 2, 3} Henthorn P.S.... Harris H. (1986)
Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA. (PubMed id 3001717)^{1, 2, 3} Kam W.... Rutter W.J. (1985)
Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase. (PubMed id 14595869)^{1, 4, 9} Magrini A....Bottini E. (2003)
Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. (PubMed id 11124260)^{1, 2, 9} Le Du M.H.... Stura E.A. (2001)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Function assignment to conserved residues in mammalian alkaline phosphatases. (PubMed id 11937510)^{1, 2} Kozlenkov A.... Millan J.L. (2002)
Site-specific mutations in the COOH-terminus of placental alkaline phosphatase: a single amino acid change converts a phosphatidylinositol-glycan-anchored protein to a secreted protein. (PubMed id 1730777)^{1, 2} Lowe M.E. (1992)
Selectivity of the cleavage/attachment site of phosphatidylinositol- glycan-anchored membrane proteins determined by site-specific mutagenesis at Asp-484 of placental alkaline phosphatase. (PubMed id 2153284)^{1, 2} Micanovic R.... Udenfriend S. (1990)
Aspartic acid-484 of nascent placental alkaline phosphatase condenses with a phosphatidylinositol glycan to become the carboxyl terminus of the mature enzyme. (PubMed id 3422741)^{1, 2} Micanovic R.... Udenfriend S. (1988)

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

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

Entrez Gene: 250	HGNC: 439	AceView: ALPPandALPPL2	Ensembl:ENSG00000163283	euGenes: HUgn250
ECgene: ALPP	Kegg: 250	H-InvDB: ALPP

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

Name	Description
PharmGKB entry for ALPP	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Alkaline_phosphatase

Intellectual Property for ALPP gene
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Patent Information for ALPP gene:
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alkaline phosphatase, placental

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Fatty Liver
Ossification Heterotopic
Gingivitis
Cholestasis Intrahepatic
PARATHYROID ADENOMA
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biliary obstruction
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OVARIAN CARCINOMA
Jaundice Cholestatic
skeletal disorder
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HYPERPARATHYROIDISM PRIMARY
Tuberculosis Hepatic
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Hepatomegaly
Hypophosphatasia
Chromosomal Aberrations
Cryptorchidism
Carcinoma Embryonal
chronic liver disease
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Cholera
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ALKALINE PHOSPHATASE, ELEVATED SERUM
bone metastases
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ALPP Gene

alkaline phosphatase, placental

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