ALG6

Protein identityUniProt · HPA

UniProt accession

Q9Y672

Gene

ALG6

Ensembl

ENSG00000088035

Chromosome

1

Canonical length

507 aa

Protein class

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

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

507 residues, UniProt reviewed canonical sequence.

>Q9Y672|ALG6
     1  MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN LPVKQWYFNS
    61  SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS RGYESQAHKL FMRTTVLIAD
   121  LLIYIPAVVL YCCCLKEIST KKKIANALCI LLYPGLILID YGHFQYNSVS LGFALWGVLG
   181  ISCDCDLLGS LAFCLAINYK QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA
   241  SFVLCWLPFF TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM
   301  SFCSTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL VSLPVCLVLS
   361  EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA CVTSFSIFEK TSEEELQLKS
   421  FSISVRKYLP CFTFLSRIIQ YLFLISVITM VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL
   481  NFLFFLVYFN IIIMWDSKSG RNQKKIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG6 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

11

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

1.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG6.

Disease | AllUniProt

Conditions ALG6 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1C (CDG1C) MIM:603147

Disease | GeneticClinVar

149 pathogenic / likely-pathogenic of 880 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG6-congenital disorder of glycosylation 1C
• ALG6-related disorder
• Inborn genetic diseases
• Clear cell carcinoma of kidney
• Colorectal cancer

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)

0.64

gnomAD pLI

0

gnomAD missense Z

1.53

DepMap mean gene effect

-0.24

DepMap dependency class

selective

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

• dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity
• glucosyltransferase activity
• dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• lumenal side of endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, ALG6/ALG8
• ALG6, ALG8 glycosyltransferase family

KeywordsUniProt

• Congenital disorder of glycosylation
• Endoplasmic reticulum
• Glycoprotein
• Glycosyltransferase
• Membrane
• Transferase
• Transmembrane
• Transmembrane helix