ALG5

Protein identityUniProt · HPA

UniProt accession

Q9Y673

Gene

ALG5

Ensembl

ENSG00000120697

Chromosome

13

Canonical length

324 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

324 residues, UniProt reviewed canonical sequence.

>Q9Y673|ALG5
     1  MAPLLLQLAV LGAALAAAAL VLISIVAFTT ATKMPALHRH EEEKFFLNAK GQKETLPSIW
    61  DSPTKQLSVV VPSYNEEKRL PVMMDEALSY LEKRQKRDPA FTYEVIVVDD GSKDQTSKVA
   121  FKYCQKYGSD KVRVITLVKN RGKGGAIRMG IFSSRGEKIL MADADGATKF PDVEKLEKGL
   181  NDLQPWPNQM AIACGSRAHL EKESIAQRSY FRTLLMYGFH FLVWFLCVKG IRDTQCGFKL
   241  FTREAASRTF SSLHVERWAF DVELLYIAQF FKIPIAEIAV NWTEIEGSKL VPFWSWLQMG
   301  KDLLFIRLRY LTGAWRLEQT RKMN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG5 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

1

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

80 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG5.

Disease | AllUniProt

Conditions ALG5 is implicated in, by any mechanism.

• Polycystic kidney disease 7 (PKD7) MIM:620056

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 77 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Polycystic kidney disease 7
• Gastric 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)

0.45

gnomAD pLI

0.46

gnomAD missense Z

1.01

DepMap mean gene effect

-0.3

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• determination of left/right symmetry
• dolichol-linked oligosaccharide biosynthetic process
• protein N-linked glycosylation
• protein N-linked glycosylation via asparagine

Molecular functions

• dolichyl-phosphate beta-glucosyltransferase activity

Cellular components

• cytoplasmic side of endoplasmic reticulum membrane
• cytoplasmic side of rough endoplasmic reticulum membrane
• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyltransferase 2-like
• Nucleotide-diphospho-sugar transferases
• Glycosyl transferase family 2
• Dolichyl-phosphate beta-glucosyltransferase

KeywordsUniProt

• Endoplasmic reticulum
• Glycosyltransferase
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix