GMPPA_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
GMPPA
Protein names and data:
GMPPA_HUMAN
, Mannose-1-phosphate guanyltransferase alpha
, GDP-mannose pyrophosphorylase A; GMPP-alpha; GTP-mannose-1-phosphate guanylyltransferase alpha
Lenght: 420 a.a.
Mass: 46291 Da
fasta formatted sequence
Function:
May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.
Disease:
( OMIM:
615495
615510
)
Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.
Tissue specificity:
Expressed in fibroblasts (at protein level).
Genetic variants
21 - 21
S -> F (in dbSNP:rs34218609). VAR_042434
34218609
156 - 156
V -> A (in dbSNP:rs13396066). VAR_042435
13396066
182 - 182
G -> D (in AAMR; drastically reduced protein expression in fibroblasts and altered subcellular location; no effect on transferrin N-glycosylation profile). VAR_070203
334 - 334
T -> M (in AAMR; no effect on transferrin N-glycosylation profile). VAR_070204
334 - 334
T -> P (in AAMR; drastically reduced protein expression in fibroblasts, altered subcellular location and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin N- glycosylation profile). VAR_070205
390 - 390
R -> P (in AAMR; drastically reduced protein expression in fibroblasts; no effect on transferrin N-glycosylation profile). VAR_070206
401 - 401
N -> T (in AAMR; drastically reduced protein expression in fibroblasts and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin, IgG and total serum protein N-glycosylation profiles). VAR_070207
Database cross-references
UniProt:
Q96IJ6
Ensembl:
ENST00000313597
Ensembl:
ENST00000341142
Ensembl:
ENST00000358215
Ensembl:
ENST00000373908
Ensembl:
ENST00000373917
MIM:
615495
MIM:
615510
neXtProt:
NX_Q96IJ6
Antibodypedia:
Q96IJ6
(may not find the protein thus also not any antibody)
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