DPAGT1

Protein identityUniProt · HPA

UniProt accession

Q9H3H5

Gene

DPAGT1

Ensembl

ENSG00000172269

Chromosome

11

Canonical length

408 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

408 residues, UniProt reviewed canonical sequence.

>Q9H3H5|DPAGT1
     1  MWAFSELPMP LLINLIVSLL GFVATVTLIP AFRGHFIAAR LCGQDLNKTS RQQIPESQGV
    61  ISGAVFLIIL FCFIPFPFLN CFVKEQCKAF PHHEFVALIG ALLAICCMIF LGFADDVLNL
   121  RWRHKLLLPT AASLPLLMVY FTNFGNTTIV VPKPFRPILG LHLDLGILYY VYMGLLAVFC
   181  TNAINILAGI NGLEAGQSLV ISASIIVFNL VELEGDCRDD HVFSLYFMIP FFFTTLGLLY
   241  HNWYPSRVFV GDTFCYFAGM TFAVVGILGH FSKTMLLFFM PQVFNFLYSL PQLLHIIPCP
   301  RHRIPRLNIK TGKLEMSYSK FKTKSLSFLG TFILKVAESL QLVTVHQSET EDGEFTECNN
   361  MTLINLLLKV LGPIHERNLT LLLLLLQILG SAITFSIRYQ LVRLFYDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPAGT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPAGT1.

Disease | AllUniProt

Conditions DPAGT1 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1J (CDG1J) MIM:608093
• Myasthenic syndrome, congenital, 13 (CMS13) MIM:614750

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 364 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital myasthenic syndrome 13
• DPAGT1-congenital disorder of glycosylation
• Congenital disorder of glycosylation
• Fetal anomalies with a likely genetic cause
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.08

gnomAD pLI

0

gnomAD missense Z

1.43

DepMap mean gene effect

-1.4

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichol-linked oligosaccharide biosynthetic process
• protein N-linked glycosylation

Molecular functions

• glycosyltransferase activity
• identical protein binding
• metal ion binding
• UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
• UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity

Cellular components

• endoplasmic reticulum membrane
• Golgi apparatus
• intracellular membrane-bounded organelle
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, family 4
• UDP-GlcNAc-dolichyl-phosphate GlcNAc phosphotransferase
• DPAGT1, insertion domain
• Glycosyl transferase family 4
• DPAGT1 insertion domain

KeywordsUniProt

• Congenital disorder of glycosylation
• Congenital myasthenic syndrome
• Endoplasmic reticulum
• Glycoprotein
• Glycosyltransferase
• Magnesium
• Membrane
• Metal-binding
• Transferase
• Transmembrane
• Transmembrane helix