Identification and characterization of YME1L1, a novel paraplegin-related gene

Genomics. 2000 May 15;66(1):48-54. doi: 10.1006/geno.2000.6136.


A gene responsible for an autosomal recessive form of hereditary spastic paraplegia (SPG7) was recently identified. This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial AAA proteases Afg3p, Rca1p, and Yme1p, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the expressed sequence tag database, we identified and characterized a novel human gene, YME1L1 (YME1L1-like1, HGMW-approved symbol). This gene encodes a predicted protein of 716 amino acids highly similar to all mitochondrial AAA proteases and in particular to yeast Yme1p. Expression and immunofluorescence studies revealed that YME1L1 and paraplegin share a similar expression pattern and the same subcellular localization in the mitochondrial compartment. YME1L1 may represent a candidate gene for other forms of hereditary spastic paraplegia and possibly for other neurodegenerative disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / metabolism
  • COS Cells
  • Chromosome Mapping
  • DNA, Complementary / chemistry
  • DNA, Complementary / isolation & purification
  • Databases, Factual
  • Embryo, Mammalian / metabolism
  • Exons
  • Expressed Sequence Tags
  • Fetus / metabolism
  • Fluorescent Antibody Technique
  • Gene Expression Profiling
  • Humans
  • Infant, Newborn
  • Introns
  • Metalloendopeptidases / genetics*
  • Mice / embryology
  • Mice / genetics
  • Mitochondria / genetics
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Myocardium / metabolism
  • Pancreas / metabolism
  • Paraplegia / genetics
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Tissue Distribution


  • DNA, Complementary
  • Mitochondrial Proteins
  • RNA, Messenger
  • Metalloendopeptidases
  • SPG7 protein, human
  • Spg7 protein, mouse
  • YME1L1 protein, human
  • ATPases Associated with Diverse Cellular Activities

Associated data

  • GENBANK/AJ132637