• Gene id: 284293

Gene Summary

• Gene Symbol: HMSD   Gene   UCSC   Ensembl
• Aliases: ACC-6, ACC6, C18orf53, HSMD-v
• Gene name: histocompatibility minor serpin domain containing
• Alternate names: serpin-like protein HMSD, minor histocompatibility protein HMSD,
• Gene location: 18q22.1 (63949258: 63969328)     Exons: 6     NC_000018.10
• Gene summary(Entrez): This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a m

Protein Summary

• Protein general information: A8MTL9  
  • Name: Serpin like protein HMSD (Minor histocompatibility protein HMSD) (Minor histocompatibility serpin domain containing protein)
  • Length: 139  
  • Mass: 15355
  • Tissue specificity: Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloid lineage. {ECO
• Sequence:

  MSISSALAMVFMGAKGNTAAQMSQALCFSKIGGEDGDIHRGFQSLLVAINRTDTEYVLRTANGLFGEKSYDFLTG
  FTDSCGKFYQATIKQLDFVNDTEKSTTRVNSWVADKTKGENILLFYFDNILNSFIVSSLQNCQI

• Structural information:
  • Interpro: IPR023796  IPR000215  IPR036186  IPR042178  
  • STRING: ENSP00000386207
• Other Databases: GeneCards:  HMSD  Malacards:  HMSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0002253	activation of immune response	IDA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray