PMID- 10366449
OWN - NLM
STAT- MEDLINE
DCOM- 19990816
LR  - 20061115
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 58
IP  - 2
DP  - 1999 Jun 1
TI  - Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) 
      encoding a putative protein O-mannosyl-transferase, and assignment to human
      chromosome 9q34.1.
PG  - 171-80
AB  - We have isolated a human gene homologous to Drosophila melanogaster rotated
      abdomen, rt, a poorly viable recessive mutation causing a clockwise twisted
      abdomen in affected flies due to defects in embryonic muscle development. The
      human gene, like rt, encodes a protein with high homology to the yeast
      mannosyl-transferases (Pmts) and has been named POMT1. POMT1 is expressed as a
      3.1-kb transcript in all tissues tested, with highest levels in testis and fetal 
      brain. Alternative splicing of several exons in all tissues predicts the
      generation of several protein isoforms. The most common mRNA variant encodes a
      725-aa protein with 40% identity and 62.5% similarity to rt, as well as 30.5%
      identity and 54% similarity to yeast Pmts. Computer prediction of protein sorting
      suggests that the POMT1 product could be an integral protein of the endoplasmic
      reticulum membrane. Given the strong conservation of protein motifs between POMT1
      and the yeast Pmts, POMT1 may function as a mannosyl-transferase involved in
      O-mannosylation of proteins, being the first of such a class found in mammals.
      The POMT1 locus has been assigned to human chromosome 9q34.1 by somatic cell
      hybrids, radiation hybrids, and linkage analysis. On the basis of the rt
      phenotype, POMT1 could be a candidate for uncharacterized genetic disorders of
      the muscular system, such as some forms of congenital muscular dystrophy or
      congenital myopathy.
CI  - Copyright 1999 Academic Press.
FAU - Jurado, L A
AU  - Jurado LA
AD  - Facultad de Medicina, Universidad Autonoma de Madrid, Madrid, 28029, Spain.
      lpjurado@mvax.fmed
FAU - Coloma, A
AU  - Coloma A
FAU - Cruces, J
AU  - Cruces J
LA  - eng
SI  - GENBANK/AF095136
SI  - GENBANK/AF095137
SI  - GENBANK/AF095138
SI  - GENBANK/AF095139
SI  - GENBANK/AF095140
SI  - GENBANK/AF095141
SI  - GENBANK/AF095142
SI  - GENBANK/AF095143
SI  - GENBANK/AF095144
SI  - GENBANK/AF095145
SI  - GENBANK/AF095146
SI  - GENBANK/AF095147
SI  - GENBANK/AF095148
SI  - GENBANK/AF095149
SI  - GENBANK/AF095150
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Proteins)
RN  - 0 (reducing agent and tunicamycin-responsive protein, human)
RN  - EC 2.4.1.- (Mannosyltransferases)
RN  - EC 2.4.1.109 (protein O-mannosyltransferase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 9
MH  - Cloning, Molecular
MH  - Gene Expression
MH  - Humans
MH  - Mannosyltransferases/*genetics
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Phylogeny
MH  - Proteins
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
EDAT- 1999/06/15 00:00
MHDA- 1999/06/15 00:01
CRDT- 1999/06/15 00:00
PHST- 1999/06/15 00:00 [pubmed]
PHST- 1999/06/15 00:01 [medline]
PHST- 1999/06/15 00:00 [entrez]
AID - S0888-7543(99)95819-6 [pii]
AID - 10.1006/geno.1999.5819 [doi]
PST - ppublish
SO  - Genomics. 1999 Jun 1;58(2):171-80. doi: 10.1006/geno.1999.5819.