Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 52
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol ACP1   Gene   UCSC   Ensembl
Aliases HAAP, LMW-PTP, LMWPTP
Gene name acid phosphatase 1, soluble
Alternate names low molecular weight phosphotyrosine protein phosphatase, LMW-PTPase, acid phosphatase of erythrocyte, adipocyte acid phosphatase, cytoplasmic phosphotyrosyl protein phosphatase, low molecular weight cytosolic acid phosphatase, protein tyrosine phosphatase, red ,
Gene location 2p25.3 (264868: 278282)     Exons: 7     NC_000002.12
Gene summary(Entrez) The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
OMIM 171500

SNPs

 rs1801133

Strand:    Allele origin: T(germline)/C(germline)   Allele change: C/T   Mutation type: snp

CM000663.2   g.11796321G>A
NC_000001.10   g.11856378G>A
NC_000001.11   g.11796321G>A
NG_013351.1   g.14783C>T
NM_001330358.1   c.788C>T
NM_005957.4   c.665C>T
NP_001317287.1   p.Ala263Val
NP_005948.3   p.Ala222Val
XP_005263515.1   p.Ala263Val
XP_005263516.1   p.Ala245Val
XP_005263517.1   p.Ala222Val
XP_005263518.1   p.Ala222Val
XP_005263519.1   p.Ala222Val
XP_005263520.1   p.Ala140Val
XP_011539797.1   p.Ala262Val
XP_011539798.1   p.Ala263Val
XP_016856817.1   p.Ala263Val
Clinical Significance: drug-response drug-response drug-response

rs1042839

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000673.2   g.101051471G>A
NC_000011.10   g.101051471G>A
NC_000011.9   g.100922202G>A
NG_016475.1   g.83343C>T
NM_000926.4   c.2310C>T
NM_001202474.3   c.1818C>T
NM_001271161.2   c.1512C>T
NM_001271162.1   c.528C>T
NP_000917.3   p.His770=
NP_001189403.1   p.His606=
NP_001258090.1   p.His504=
NP_001258091.1   p.His176=
NR_073141.2   n.2303C>T
NR_073142.2   n.2186C>T
NR_073143.2   n.1997C>T
XP_006718921.1   p.His770=
rs11264799

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.157700967C>T
NC_000001.10   g.157670757C>T
NC_000001.11   g.157700967C>T
NG_023241.1   g.4891G>A
NM_001320333.1   c.-402G>A
NM_052939.3   c.-402G>A
NR_135214.1   n.-95G>A
NR_135215.1   n.-95G>A
NR_135216.1   n.-95G>A
NR_135217.1   n.-95G>A
XR_241064.1   n.-204G>A
XR_241065.1   n.-204G>A
XR_241066.1   n.-204G>A
rs17561

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000002.12   g.112779646C>A
NC_000002.11   g.113537223C>A
NG_008850.1   g.10749G>T
NM_000575.4   c.340G>T
NP_000566.3   p.Ala114Ser
  
rs945635

Strand: +   Allele origin: unknown  Allele change: A/C/G   Mutation type: snp

  
XM_006711145.1   c.-11G>C
XM_006711145.1   c.-11G>T
NM_001320333.1   c.-11G>C
NM_001320333.1   c.-11G>T
XM_005244872.1   c.-11G>C
XM_005244872.1   c.-11G>T
XM_005244870.1   c.-11G>C
XM_005244870.1   c.-11G>T
XM_005244871.1   c.-11G>C
XM_005244871.1   c.-11G>T
NR_135214.1   n.
rs1304037

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000002.11   g.113532236T>C
NC_000002.12   g.112774659T>C
NG_008850.1   g.15736A>G
NM_000575.4   c.*408A>G
  
rs2107538

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000679.2   g.35880776C>T
NC_000017.10   g.34207780C>T
NC_000017.11   g.35880776C>T
NG_015990.1   g.4598G>A
NM_001278736.1   c.-471G>A
NM_002985.2   c.-471G>A
NT_187614.1   g.115308C>T
NW_004166864.2   g.172944C>T
XR_001752852.1   n.426+702C>T
XR_001756367.1   n.426+702C>T
XR_934696.2   n.91-3606C>T
XR_934697.2   n.91-3606C>T
XR_951963.2   n.91-3606C>T
XR_951964.2   n.91-3606C>T
rs1801133

Strand: -   Allele origin: germline,germline  Allele change: C/T   Mutation type: snp

  
NC_000001.11   g.11796321G>A
NC_000001.10   g.11856378G>A
NG_013351.1   g.14783C>T
NM_001330358.1   c.788C>T
NM_005957.4   c.665C>T
NP_001317287.1   p.Ala263Val
NP_005948.3   p.Ala222Val
XM_005263462.1   c.665C>T
XM_005263462.4   c.665C>T
XM_005263460.4   c.665C>T
XM_005263  
Clinical Significance: drug-response

rs2280788

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000679.2   g.35880401G>C
NC_000017.10   g.34207405G>C
NC_000017.11   g.35880401G>C
NG_015990.1   g.4973C>G
NM_001278736.1   c.-96C>G
NM_002985.2   c.-96C>G
NT_187614.1   g.114933G>C
NW_004166864.2   g.172569G>C
XR_001752852.1   n.426+327G>C
XR_001756367.1   n.426+327G>C
XR_934696.2   n.91-3981G>C
XR_934697.2   n.91-3981G>C
XR_951963.2   n.91-3981G>C
XR_951964.2   n.91-3981G>C
rs2294021

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000685.2   g.49249149T>A
CM000685.2   g.49249149T>C
NC_000023.10   g.49105610T>C
NC_000023.11   g.49249149T>A
NC_000023.11   g.49249149T>C
NG_007392.1   g.20679A>G
NG_007392.1   g.20679A>T
NG_021311.2   g.18685T>A
NG_021311.2   g.18685T>C
NM_014008.4   c.1540-18T>A
NM_014008.4   c.1540-18T>C
NW_004070880.2   g.1488578T>C
XR_430506.2   n.1638-18T>A
XR_430506.2   n.1638-18T>C
Clinical Significance: Benign

rs2856836

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000002.11   g.113532083A>G
NC_000002.12   g.112774506A>G
NG_008850.1   g.15889T>C
NM_000575.4   c.*561T>C
rs3761959

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157669278C>T
NC_000001.11   g.157699488C>T
NG_023241.1   g.6370G>A
NM_001320333.1   c.52+204G>A
NM_052939.3   c.52+204G>A
NR_135217.1   n.359+204G>A
NR_135216.1   n.359+204G>A
NR_135215.1   n.359+204G>A
NR_135214.1   n.359+204G>A
XM_005244872.1   c.52+204G>
rs3783525

Strand: -   Allele origin: unknown  Allele change: A/T   Mutation type: snp

  
NC_000002.12   g.112784242T>A
NC_000002.11   g.113541819T>A
NG_008850.1   g.6153A>T
NM_000575.4   c.-9+201A>T
rs3783550

Strand: -   Allele origin: unknown  Allele change: A/C   Mutation type: snp

  
NC_000002.11   g.113532885G>T
NC_000002.12   g.112775308G>T
NG_008850.1   g.15087C>A
NM_000575.4   c.616-41C>A
rs3783553

Strand: -   Allele origin: unknown  Allele change: -/TTCA   Mutation type: in-del

NC_000002.12   g.112774138_112774139insTGAA
NC_000002.11   g.113531715_113531716insTGAA
NG_008850.1   g.16256_16257insTTCA
NM_000575.4   c.*928_*929insTTCA
  
rs7528684

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157670816A>G
NC_000001.11   g.157701026A>G
NG_023241.1   g.4832T>C
NM_001320333.1   c.-461T>C
NM_052939.3   c.-461T>C
NR_135216.1   n.-154T>C
NR_135215.1   n.-154T>C
NR_135217.1   n.-154T>C
NR_135214.1   n.-154T>C
XM_005244871.1   c.-263T>C
XM_005244872.1   c
rs500760

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.101039260T>C
NC_000011.10   g.101039260T>C
NC_000011.9   g.100909991T>C
NG_016475.1   g.95554A>G
NM_000926.4   c.2658A>G
NM_001202474.3   c.2166A>G
NM_001271161.2   c.1860A>G
NM_001271162.1   c.876A>G
NP_000917.3   p.Gln886=
NP_001189403.1   p.Gln722=
NP_001258090.1   p.Gln620=
NP_001258091.1   p.Gln292=
NR_073141.2   n.2599A>G
NR_073142.2   n.2482A>G
NR_073143.2   n.2214A>G
rs10895068

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000011.9   g.101000214C>T
NC_000011.10   g.101129483C>T
NM_001271161.2   c.-905G>A
NM_001271162.1   c.-201G>A
NG_016475.1   g.5331G>A
NM_000926.4   c.-413G>A
NM_001202474.3   c.-905G>A
NR_073141.2   n.-420G>A
NR_073142.2   n.-420G>A
NR_073143.2   n.-420G>A
NR_073144.1   n.4

Protein Summary
Protein general information P24666  

Name: Low molecular weight phosphotyrosine protein phosphatase (LMW PTP) (LMW PTPase) (EC 3.1.3.48) (Adipocyte acid phosphatase) (Low molecular weight cytosolic acid phosphatase) (EC 3.1.3.2) (Red cell acid phosphatase 1)

Length: 158  Mass: 18,042

Tissue specificity: T-lymphocytes express only isoform 2. {ECO

Sequence MAEQATKSVLFVCLGNICRSPIAEAVFRKLVTDQNISENWRVDSAATSGYEIGNPPDYRGQSCMKRHGIPMSHVA
RQITKEDFATFDYILCMDESNLRDLNRKSNQVKTCKAKIELLGSYDPQKQLIIEDPYYGNDSDFETVYQQCVRCC
RAFLEKAH
Structural information
Interpro:  IPR023485 IPR002115 IPR017867

Pfam:  		 PF01451
CDD:   cd00115

PDB:  		 1XWW 3N8I 4Z99 4Z9A 4Z9B 5JNR 5JNS 5JNT 5KQG 5KQL 5KQM 5KQP 5PNT
PDBsum:   1XWW 3N8I 4Z99 4Z9A 4Z9B 5JNR 5JNS 5JNT 5KQG 5KQL 5KQM 5KQP 5PNT
STRING:   ENSP00000272065;
Other Databases GeneCards:  ACP1;  Malacards:  ACP1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003993 acid phosphatase activity
 IEA molecular_function
GO:0004726 non-membrane spanning pro
tein tyrosine phosphatase
activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0035335 peptidyl-tyrosine dephosp
horylation
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0003993 acid phosphatase activity
 IEA molecular_function
GO:0003993 acid phosphatase activity
 IEA molecular_function
GO:0003993 acid phosphatase activity
 IEA molecular_function
GO:0003993 acid phosphatase activity
 TAS molecular_function
GO:0004721 phosphoprotein phosphatas
e activity
 IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IEA molecular_function
GO:0004726 non-membrane spanning pro
tein tyrosine phosphatase
activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0006470 protein dephosphorylation
 IEA biological_process
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0016791 phosphatase activity
 IEA molecular_function
GO:0035335 peptidyl-tyrosine dephosp
horylation
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0003993 acid phosphatase activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa04520  Adherens junction
hsa00730  Thiamine metabolism
hsa00740  Riboflavin metabolism

Diseases

Associated diseases References
Asthma PMID: 16224193
Atherosclerosis PMID: 11771313
Cancer PMID: 18262048
Diabetes PMID: 15586390
Endometriosis PMID: 26216523
Osteoporosis PMID: 15230135
Tourette syndrome PMID: 12231445
Endometriosis INFBASE18490013
Varicocele PMID: 23278455

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26216523 Endometrio
sis
380 (130 women
hospitalized fo
r endometriosis
, 250 women wit
hout endometrio
sis)
 ACP1
ADA
PTPN22
 Show abstract
18490013 Endometrio
sis
 ACP1( *)C allele

ACP1
 Show abstract