ALG11

Protein identityUniProt · HPA

UniProt accession

Q2TAA5

Gene

ALG11

Ensembl

ENSG00000253710

Chromosome

13

Canonical length

492 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>Q2TAA5|ALG11
     1  MAAGERSWCL CKLLRFFYSL FFPGLIVCGT LCVCLVIVLW GIRLLLQRKK KLVSTSKNGK
    61  NQMVIAFFHP YCNAGGGGER VLWCALRALQ KKYPEAVYVV YTGDVNVNGQ QILEGAFRRF
   121  NIRLIHPVQF VFLRKRYLVE DSLYPHFTLL GQSLGSIFLG WEALMQCVPD VYIDSMGYAF
   181  TLPLFKYIGG CQVGSYVHYP TISTDMLSVV KNQNIGFNNA AFITRNPFLS KVKLIYYYLF
   241  AFIYGLVGSC SDVVMVNSSW TLNHILSLWK VGNCTNIVYP PCDVQTFLDI PLHEKKMTPG
   301  HLLVSVGQFR PEKNHPLQIR AFAKLLNKKM VESPPSLKLV LIGGCRNKDD ELRVNQLRRL
   361  SEDLGVQEYV EFKINIPFDE LKNYLSEATI GLHTMWNEHF GIGVVECMAA GTIILAHNSG
   421  GPKLDIVVPH EGDITGFLAE SEEDYAETIA HILSMSAEKR LQIRKSARAS VSRFSDQEFE
   481  VTFLSSVEKL FK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG11 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)

0.25

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG11.

Disease | AllUniProt

Conditions ALG11 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1P (CDG1P) MIM:613661

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 215 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG11-congenital disorder of glycosylation
• ALG11-related disorder
• Seizure

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)

1.33

gnomAD pLI

0

gnomAD missense Z

-0.05

DepMap mean gene effect

-1.32

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

• alpha-1,2-mannosyltransferase activity
• GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, family 1
• Glycosyl transferases group 1
• ALG11 mannosyltransferase, N-terminal
• ALG11 mannosyltransferase
• ALG11 mannosyltransferase N-terminus

KeywordsUniProt

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