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

Gene Summary
Gene Symbol ACP1   Gene   UCSC   Ensembl
Aliases HAAP, LMW-PTP, LMWPTP
Gene name acid phosphatase 1
Alternate names low molecular weight phosphotyrosine protein phosphatase, LMW-PTPase, acid phosphatase 1, soluble, acid phosphatase of erythrocyte, adipocyte acid phosphatase, cytoplasmic phosphotyrosyl protein phosphatase, low molecular weight cytosolic acid phosphatase,
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 e
OMIM 171500

SNPs
rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

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

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

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

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs55763075

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

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs11135484

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

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

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

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

rs10841496

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

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs10244329

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

NC_000007.14   g.128248636A>T
NC_000007.13   g.127888689A>T
NG_007450.1   g.12359A>T|SEQ=[A/T]|GENE=LEP

rs6563386

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

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs2231829

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

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2020880

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

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs1801131

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

NC_000001.11   g.11794419T>G
NC_000001.10   g.11854476T>G
NG_013351.1   g.16685A>C
NM_005957.5   c.1286A>C
NM_005957.4   c.1286A>C
NM_001330358.1   c.1409A>C
XM_005263460.5   c.1286A>C
XM_005263460.1   c.1286A>C
XM_005263463.4   c.1040A>C
XM_005263463.1   c.1040A>C
XM_0  

rs1328626

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

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1045642

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

NC_000007.14   g.87509329A>G
NC_000007.14   g.87509329A>T
NC_000007.13   g.87138645A>G
NC_000007.13   g.87138645A>T
NG_011513.1   g.208920T>C
NG_011513.1   g.208920T>A
NM_000927.4   c.3435T>C
NM_000927.4   c.3435T>A
NM_001348945.1   c.3645T>C
NM_001348945.1   c.3645T>A
  

rs11594

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

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

rs2477686

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

NC_000001.11   g.2461209G>C
NC_000001.10   g.2392648G>C
NT_187515.1   g.12399G>C|SEQ=[G/C]|GENE=PLCH2

rs1727130

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

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

rs1801394

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

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

rs1800734

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

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs161870

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

NC_000005.10   g.7878079T>C
NC_000005.10   g.7878079T>G
NC_000005.9   g.7878192T>C
NC_000005.9   g.7878192T>G
NG_008856.1   g.13976T>C
NG_008856.1   g.13976T>G
NM_024010.4   c.537T>C
NM_024010.4   c.537T>G
NM_024010.3   c.537T>C
NM_024010.3   c.537T>G
NM_024010.2   c.618T

rs162036

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

NC_000005.10   g.7885846A>G
NC_000005.9   g.7885959A>G
NG_008856.1   g.21743A>G
NM_024010.4   c.1049A>G
NM_024010.3   c.1049A>G
NM_024010.2   c.1130A>G
NM_002454.3   c.1049A>G
NM_002454.2   c.1049A>G
NM_001364440.2   c.1049A>G
NM_001364440.1   c.1049A>G
NM_001364441.2   c

rs3740753

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

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

rs1042838

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

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

rs4541736

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

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

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

Sequence MAEQATKSVLFVCLGNICRSPIAEAVFRKLVTDQNISENWRVDSAATSGYEIGNPPDYRGQSCMKRHGIPMSHVA
RQITKEDFATFDYILCMDESNLRDLNRKSNQVKTCKAKIELLGSYDPQKQLIIEDPYYGNDSDFETVYQQCVRCC
RAFLEKAH
Structural information
Interpro:  IPR023485  IPR036196  IPR002115  IPR017867  

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

Expand All | Collapse All
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

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa04520Adherens junction

Diseases

Expand All | Collapse All
Associated diseases References
Cancer GAD: 18262048
Cancer (colon) GAD: 18786445
Cancer (leiomyoma) GAD: 18992867
Atherosclerosis GAD: 11771313
Cardiovascular disease GAD: 19246900
Intrauterine growth retardation GAD: 11369750
Allergy GAD: 17390764
Asthma GAD: 16224193
Systemic lupus erythematosus (SLE) GAD: 18604186
Hypersensitivity GAD: 17703100
Obesity GAD: 19217450
Diabetes GAD: 15586390
Osteoporosis GAD: 15230135
Tourette syndrome GAD: 12231445
Epilepsy GAD: 19569003
Cirrhosis GAD: 11436564
Abortion GAD: 20587610
Female infertility INFBASE: 18490013
Varicocele MIK: 23278455
Endometriosis INFBASE: 26216523
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269
Varicocele MIK: 23278455

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23278455 Varicocele
 ACP1 *B/*C genotype
105 subjects re
ferred to for v
aricocele
 Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
31037746 Spermatoge
nic defect
s
28 men with az
oospermia
 Male infertility Microarray
 Show abstract