• Gene id: 90625

Gene Summary

• Gene Symbol: ERVH48-1   Gene   UCSC   Ensembl
• Aliases: C21orf105, NDUFV3-AS1, SUPYN
• Gene name: endogenous retrovirus group 48 member 1
• Alternate names: suppressyn, NDUFV3 antisense RNA 1 (non-protein coding), endogenous retrovirus group Fb member 1, suppresyn,
• Gene location: 21q22.3 (42925597: 42917250)     Exons: 2     NC_000021.9
• Gene summary(Entrez): Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has plac

Protein Summary

• Protein general information: M5A8F1  
  • Name: Suppressyn (Endogenous retrovirus group 48 member 1) (NDUFV3 antisense RNA 1) (endogenous retrovirus group Fb member 1)
  • Length: 160  
  • Mass: 18128
  • Tissue specificity: Specifically expressed in placenta by extravillous trophoblasts and syncytiotrophoblasts (at protein level). {ECO
• Sequence:

  MACIYPTTFYTSLPTKSLNMGISLTTILILSVAVLLSTAAPPSCRECYQSLHYRGEMQQYFTYHTHIERSCYGNL
  IEECVESGKSYYKVKNLGVCGSRNGAICPRGKQWLCFTKIGQWGVNTQVLEDIKREQIIAKAKASKPTTPPENRP
  RHFHSFIQKL

• Other Databases: GeneCards:  ERVH48-1  Malacards:  ERVH48-1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0006949	syncytium formation	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R