Multiple forms of the Menkes Cu-ATPase

Adv Exp Med Biol. 1999:448:39-51. doi: 10.1007/978-1-4615-4859-1_4.

Abstract

The 5' region of MNK cDNAs has a 45 bp insert terminating at the 5'end with an AGATG sequence. The ATG in the sequence is in-frame with the ATG downstream identified by Vulpe et al (1993) as a translation start site for MNK mRNA. Inserts of 192 bp and 45 bp have been found in the 5' region of MNK mRNAs from BeWo cells, Caco-2 cells and normal human fibroblasts. Extensions to the 5' end of these mRNAs could foretell a modified N-termini in certain forms of the Menkes Cu-ATPase. These modified H2N-terminal extensions are postulated to be targeting signals for post-translational processing and cellular localization. In this report, we provide evidence that the primary Menkes transcript in non-Menkes cells undergoes post-transcriptional splicing that gives rise to multiple transcripts. The data suggest that the Menkes gene is a copper locus that codes for more than one form of the Menkes Cu-ATPase and one of these forms could be a small Cu transport protein.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper*
  • Copper-Transporting ATPases
  • Humans
  • Menkes Kinky Hair Syndrome / enzymology*
  • Menkes Kinky Hair Syndrome / genetics
  • Molecular Sequence Data
  • RNA, Messenger
  • Recombinant Fusion Proteins*

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases