• Gene id: 10650

Gene Summary

• Gene Symbol: PRELID3A   Gene   UCSC   Ensembl
• Aliases: C18orf43, HFL-EDDG1, SLMO1
• Gene name: PRELI domain containing 3A
• Alternate names: PRELI domain containing protein 3A, erythroid differentiation and denucleation factor 1, protein slowmo homolog 1, slowmo homolog 1,
• Gene location: 18p11.21 (12407928: 12432237)     Exons: 69     NC_000018.10
• OMIM: 616545

Protein Summary

• Protein general information: Q96N28  
  • Name: PRELI domain containing protein 3A (Protein slowmo homolog 1)
  • Length: 172  
  • Mass: 19247
• Sequence:

  MKIWSSEHVFGHPWDTVIQAAMRKYPNPMNPSVLGVDVLQRRVDGRGRLHSLRLLSTEWGLPSLVRAILGTSRTL
  TYIREHSVVDPVEKKMELCSTNITLTNLVSVNERLVYTPHPENPEMTVLTQEAIITVKGISLGSYLESLMANTIS
  SNAKKGWAAIEWIIEHSESAVS

• Structural information:
  • Protein Domains: (1..17-)
    (/note="PRELI/MSF1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00158"-)
  • Interpro: IPR006797  IPR037365  
  • Prosite: PS50904
  • PDB: 4XZV
  • PDBsum: 4XZV
  • STRING: ENSP00000404700
• Other Databases: GeneCards:  PRELID3A  Malacards:  PRELID3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990050	phosphatidic acid transfer activity	IBA	molecular function
GO:0015914	phospholipid transport	IBA	biological process
GO:0005758	mitochondrial intermembrane space	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0015914	phospholipid transport	IDA	biological process
GO:1990050	phosphatidic acid transfer activity	IDA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881