Entity Details

Primary name GMPPA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96IJ6
EntryNameGMPPA_HUMAN
FullNameMannose-1-phosphate guanyltransferase alpha
TaxID9606
Evidenceevidence at protein level
Length420
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesGMPPA

GO terms

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GOName
GO:0005737 cytoplasm
GO:0009058 biosynthetic process
GO:0016779 nucleotidyltransferase activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001451 Hexapeptide repeatRepeatRepeat
IPR005835 Nucleotidyl transferase domainDomainDomain
IPR018357 Hexapeptide transferase, conserved siteSiteConserved site
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615510 OMIMAlacrima, achalasia, and mental retardation syndrome (AAMR)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. The disease is caused by variants affecting the gene represented in this entry.