• Gene id: 97

Gene Summary

• Gene Symbol: ACYP1   Gene   UCSC   Ensembl
• Aliases: ACYPE
• Gene name: acylphosphatase 1
• Alternate names: acylphosphatase-1, acylphosphatase 1, erythrocyte (common) type, acylphosphatase, erythrocyte isozyme, acylphosphatase, organ-common type isozyme, acylphosphate phosphohydrolase 1,
• Gene location: 14q24.3 (75069489: 75053242)     Exons: 5     NC_000014.9
• Gene summary(Entrez): This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue loca
• OMIM: 600875

SNPs

rs786204822

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

NC_000019.10   g.49016546C>A
NC_000019.10   g.49016546C>G
NC_000019.9   g.49519803C>A
NC_000019.9   g.49519803C>G
NG_033041.1   g.27648C>A
NG_033041.1   g.27648C>G
NG_011464.1   g.5545G>T
NG_011464.1   g.5545G>C|SEQ=[C/A/G]|GENE=LHB

rs7371084

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

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs700519

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

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs68073206

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

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4539842

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

NC_000002.12   g.48755625A>T
NC_000002.11   g.48982764A>T
NG_033050.2   g.230701A>T
NG_033050.1   g.230701A>T
NG_008193.2   g.5117T>A
NG_008193.1   g.5117T>A
NM_000233.4   c.47T>A
NM_000233.3   c.47T>A
NP_000224.2   p.Leu16Gln|SEQ=[A/T]|GENE=LHCGR
STON1-GTF2A1L   2

rs2293275

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

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs11614913

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

NC_000012.12   g.53991815C>T
NC_000012.11   g.54385599C>T
NR_029617.1   n.78C>T|SEQ=[C/T]|GENE=MIR196A2

rs4597581

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

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

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

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs34349826

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

NC_000019.10   g.49016626A>G
NC_000019.9   g.49519883A>G
NG_033041.1   g.27728A>G
NG_011464.1   g.5465T>C
NM_000894.3   c.104T>C
NM_000894.2   c.104T>C
NP_000885.1   p.Ile35Thr|SEQ=[A/G]|GENE=LHB

rs6521

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

NC_000019.10   g.49016616G>A
NC_000019.10   g.49016616G>C
NC_000019.10   g.49016616G>T
NC_000019.9   g.49519873G>A
NC_000019.9   g.49519873G>C
NC_000019.9   g.49519873G>T
NG_033041.1   g.27718G>A
NG_033041.1   g.27718G>C
NG_033041.1   g.27718G>T
NG_011464.1   g.5475C>T
  

rs761250416

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

NC_000014.9   g.45159190dup
NC_000014.8   g.45628393dup
NG_007417.1   g.28258dup
NM_020937.4   c.1491dup
NM_020937.3   c.1491dup
NM_020937.2   c.1491dup
NM_001308133.2   c.1413dup
NM_001308133.1   c.1413dup
NM_001308134.1   c.1491dup
XM_011537035.3   c.1413dup
XM_011537  

rs144567652

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

NC_000014.9   g.45198718C>A
NC_000014.9   g.45198718C>T
NC_000014.8   g.45667921C>A
NC_000014.8   g.45667921C>T
NG_007417.1   g.67786C>A
NG_007417.1   g.67786C>T
NM_020937.4   c.5791C>A
NM_020937.4   c.5791C>T
NM_020937.3   c.5791C>A
NM_020937.3   c.5791C>T
NM_020937.2  

Protein Summary

• Protein general information: P07311  
  • Name: Acylphosphatase 1 (EC 3.6.1.7) (Acylphosphatase, erythrocyte isozyme) (Acylphosphatase, organ common type isozyme) (Acylphosphate phosphohydrolase 1)
  • Length: 99  
  • Mass: 11261
  • Tissue specificity: Organ-common type isozyme is found in many different tissues.
• Sequence:

  MAEGNTLISVDYEIFGKVQGVFFRKHTQAEGKKLGLVGWVQNTDRGTVQGQLQGPISKVRHMQEWLETRGSPKSH
  IDKANFNNEKVILKLDYSDFQIVK

• Structural information:
  • Protein Domains: (9..9-)
    (/note="Acylphosphatase-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00520"-)
  • Interpro: IPR020456  IPR001792  IPR036046  IPR017968  
  • Prosite: PS00150 PS00151 PS51160
  • PDB: 2K7J 2K7K 2VH7 2W4C 2W4P 3TOQ 6CBU
  • PDBsum: 2K7J 2K7K 2VH7 2W4C 2W4P 3TOQ 6CBU
  • STRING: ENSP00000238618
• Other Databases: GeneCards:  ACYP1  Malacards:  ACYP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003998	acylphosphatase activity	IBA	molecular function
GO:0003998	acylphosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003998	acylphosphatase activity	TAS	molecular function
GO:0006796	phosphate-containing compound metabolic process	TAS	biological process
GO:0003998	acylphosphatase activity	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00620	Pyruvate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881