• Gene id: 249

Gene Summary

• Gene Symbol: ALPL   Gene   UCSC   Ensembl
• Aliases: AP-TNAP, APTNAP, HOPS, TNALP, TNAP, TNSALP
• Gene name: alkaline phosphatase, biomineralization associated
• Alternate names: alkaline phosphatase, tissue-nonspecific isozyme, alkaline phosphatase liver/bone/kidney isozyme, alkaline phosphatase, liver/bone/kidney, liver/bone/kidney-type alkaline phosphatase, tissue non-specific alkaline phosphatase, tissue-nonspecific ALP,
• Gene location: 1p36.12 (21508983: 21578411)     Exons: 14     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the alkaline phosphatase family of proteins. 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
• OMIM: 182100

SNPs

rs1394205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs6166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs369191560

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

Protein Summary

• Protein general information: P05186  
  • Name: Alkaline phosphatase, tissue nonspecific isozyme (AP TNAP) (TNSALP) (EC 3.1.3.1) (Alkaline phosphatase liver/bone/kidney isozyme)
  • Length: 524  
  • Mass: 57305
• Sequence:

  MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKG
  QLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSI
  LRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKY
  MYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELN
  RNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVV
  TADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLR
  HETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLALALYPLSVLF

• Structural information:
  • Interpro: IPR001952  IPR018299  IPR017850  
  • Prosite: PS00123
  • CDD: cd16012
  • STRING: ENSP00000363973
• Other Databases: GeneCards:  ALPL  Malacards:  ALPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016311	dephosphorylation	IBA	biological process
GO:0004035	alkaline phosphatase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0004035	alkaline phosphatase activity	IEA	molecular function
GO:0016462	pyrophosphatase activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004035	alkaline phosphatase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0071529	cementum mineralization	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0003006	developmental process involved in reproduction	IEA	biological process
GO:0004035	alkaline phosphatase activity	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0046677	response to antibiotic	IEA	biological process
GO:0065010	extracellular membrane-bounded organelle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016462	pyrophosphatase activity	IEA	molecular function
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0033280	response to vitamin D	IEP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis
hsa00730	Thiamine metabolism

Diseases

Associated diseases	References
Hypophosphatasia	KEGG:H00213
Hypophosphatasia	KEGG:H00213
Familial combined hyperlipidemia	PMID:16336518
Hypophosphatasia	PMID:8406453
Arteriosclerosis	PMID:17010978
Uremia	PMID:18288101
in situ carcinoma	PMID:10547581
Fatty liver disease	PMID:16197789
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq