STT3 oligosaccharyltransferase complex catalytic subunit A

Summary
Gene Symbol
  • STT3A
Aliases
  • MGC9042
  • STT3-A
  • TMC
  • dolichyl-diphosphooligosaccharide protein glycotransferase
Organism
Homo sapiens (human)
NCBI Gene
3703
HGNC
6172
KEGG Gene ID
hsa:3703
PubChem
3703
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Magnesium
  • Manganese
  • Metal-binding
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P46977
  • B5
  • Integral membrane protein 1
  • Transmembrane protein TMC
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K07151
Name
dolichyl-diphosphooligosaccharide---protein glycosyltransferase [EC:2.4.99.18]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05976
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0080572 congenital disorder of glycosylation Iw
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000046 Small scrotum
HP:0000054 Micropenis
HP:0000219 Thin upper lip vermilion
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000276 Long face
HP:0000303 Mandibular prognathia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:370921
  • STT3A-congenital disorder of glycosylation
OMIM:615596
  • STT3A-congenital disorder of glycosylation
OMIM:619714
  • congenital disorder of glycosylation, type Iw, autosomal dominant
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP003635
Gene Name
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024