• Gene id: 11147

Gene Summary

• Gene Symbol: HHLA3   Gene   UCSC   Ensembl
• Gene name: HERV-H LTR-associating 3
• Alternate names: HERV-H LTR-associating protein 3, human endogenous retrovirus-H long terminal repeat-associating 3, human endogenous retrovirus-H long terminal repeat-associating protein 3,
• Gene location: 1p31.1 (70353838: 70368022)     Exons: 6     NC_000001.11
• OMIM: 604372

Protein Summary

• Protein general information: Q9XRX5  
  • Name: HERV H LTR associating protein 3 (Human endogenous retrovirus H long terminal repeat associating protein 3)
  • Length: 114  
  • Mass: 12913
  • Tissue specificity: Expressed in kidney and liver. {ECO
• Sequence:

  MFGACYKQPLKPSGSEPPAEECRMTPRHAGCDVTEMQRILSQPTFTEHLLRAVCTKLANMYSTSTDCREHCRRGM
  KAKQLKAEAGRSCQRKGVPIQTPREHSWISCKKEFEANP

• Structural information:
  • STRING: ENSP00000359978
• Other Databases: GeneCards:  HHLA3  Malacards:  HHLA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)