HMSD - histocompatibility minor serpin domain containing Gene

Also Known as ACC6; ACC-6; HSMD-v; C18orf53

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 284293

About HMSD

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,949,301-63,969,648 (from NCBI)

This gene has 4 transcripts (splice variants), 102 orthologues and 36 paralogues. Low expression observed in reference dataset.

Summary

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 minor histocompatibility antigen. [provided by RefSeq, Oct 2010]

HMSD Products (1)

mRNA Protein Name
NM_001123366.2 NP_001116838.1 serpin-like protein HMSD

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
involved in activation of immune response IDA
IDA: Inferred from direct assay
17409267 GOA
involved in activation of immune response IMP
IMP: Inferred from mutant phenotype
17409267 GOA
involved in cytolysis IMP
IMP: Inferred from mutant phenotype
17409267 GOA
involved in positive regulation of type II interferon production IMP
IMP: Inferred from mutant phenotype
17409267 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMSD Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (1 - 115)

  • 0
  • 100
  • 139 a.a.
Protein Preferred Names Protein Names

serpin-like protein HMSD

  • minor histocompatibility protein HMSD

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 16

  • PCH16

  • Pontocerebellar Hypoplasia Type 16

  • Pontocerebellar Hypoplasia 16

  • Doid:0112333
Bubonic Plague

  • Black Death

  • Plague, Bubonic

  • Plague, Septicemic

  • Pestis Bubonica
Pneumonic Plague

  • Primary Pneumonic Plague

  • Secondary Pneumonic Plague

  • Plague

  • Plague, Pneumonic

  • Plague Pneumonia

  • Plague Of Lung

  • Pulmonary Plague

  • Pneumonia Due To Yersinia Pestis
Septicemic Plague

  • Plague, Septicemic
Plague

  • Yersiniosis

  • Yersinia Infections

  • Infection By Yersinia Pestis

  • Pasteurella Pestis Infection

  • Pestilential Fever

  • Yersinia Pestis Infection
Osteogenesis Imperfecta, Type Iii

  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06251 HMSD Human Pre-designed siRNA Set A Pre-designed Set / Unkown