InnateDB Protein
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IDBP-81794.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GMPPA
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Protein Name
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GDP-mannose pyrophosphorylase A
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000363027
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InnateDB Gene
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IDBG-81790 (GMPPA)
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Protein Structure
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Function |
May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. {ECO:0000269PubMed:24035193}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:24035193}. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.
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Disease Associations |
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. {ECO:0000269PubMed:24035193}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in fibroblasts (at protein level). {ECO:0000269PubMed:24035193}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0016779
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nucleotidyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005835
Nucleotidyl transferase
IPR011004
Trimeric LpxA-like
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF00483
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96IJ6
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PhosphoSite |
PhosphoSite-Q96IJ6
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TrEMBL |
C9JAH0
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UniProt Splice Variant |
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Entrez Gene |
29926
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UniGene |
Hs.27059
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RefSeq |
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HUGO |
HGNC:22923
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OMIM |
615495
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CCDS |
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HPRD |
13588
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IMGT |
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EMBL |
AC053503
AF135422
AK000999
AK022578
AK222951
AK290671
BC007456
CH471063
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GenPept |
AAD38517
AAH07456
AAY15053
BAA91460
BAD96671
BAF83360
BAG51096
EAW70755
EAW70759
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