• Gene id: 758

Gene Summary

• Gene Symbol: MPPED1   Gene   UCSC   Ensembl
• Aliases: 239AB, C22orf1, FAM1A
• Gene name: metallophosphoesterase domain containing 1
• Alternate names: metallophosphoesterase domain-containing protein 1, adult brain protein 239,
• Gene location: 22q13.2 (43412013: 43507847)     Exons: 8     NC_000022.11

SNPs

rs7811653

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

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

Protein Summary

• Protein general information: O15442  
  • Name: Metallophosphoesterase domain containing protein 1 (EC 3.1. . ) (Adult brain protein 239) (239AB)
  • Length: 326  
  • Mass: 37207
  • Tissue specificity: Expressed predominantly in adult brain.
• Sequence:

  MWRSRWDASVLKAEALALLPCGLGMAFSQSHVMAARRHQHSRLIIEVDEYSSNPTQAFTFYNINQGRFQPPHVQM
  VDPVPHDAPKPPGYTRFVCVSDTHSRTDPIQMPYGDVLIHAGDFTELGLPSEVKKFNEWLGSLPYEYKIVIAGNH
  ELTFDQEFMADLIKQDFYYFPSVSKLKPENYENVQSLLTNCIYLQDSEVTVRGFRIYGSPWQPWFYGWGFNLPRG
  QALLEKWNLIPEGVDILITHGPPLGFLDWVPKKMQRVGCVELLNTVQRRVQPRLHVFGHIHEGYGVMADGTTTYV
  NASVCTVNYQPVNPPIVIDLPTPRNS

• Structural information:
  • Interpro: IPR024201  IPR004843  IPR029052  
  • STRING: ENSP00000388137
• Other Databases: GeneCards:  MPPED1  Malacards:  MPPED1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray