Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3

Kentaro Nagamine, Jun Kudoh, Kazuhiko Kawasaki, Shinsei Minoshima, Shuichi Asakawa, Fumiaki Ito, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

6 Citations (Scopus)


TMEM1 (EHOC-1) gene encodes a putative transmembrane protein and is located on human chromosome band 21q22.3. Analysis of a 122,638-bp genomic sequence revealed that TMEM1 gene consists of 23 exons spanning approximately 94 kb and is transcribed in the direction of centromere to telomere. The 5' region of the TMEM1 gene was associated with a CpG island and the 3' end of the TMEM1 gene was mapped just proximal to the 5' end of the neighboring gene PWP2. We determined that the TMEM1 gene encodes a protein of 1259 amino acids, which is 69-amino acids longer than the previously reported sequence. Since TMEM1 gene is considered to be a candidate for genetic disorders mapped in the 21q22.3 region, the information including complete nucleotide sequence and genomic organization of the TMEM1 gene should be invaluable for the mutation analysis of the corresponding genetic disorders.

Original languageEnglish
Pages (from-to)185-190
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - 1997 Jun 9


ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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