ALG3

Protein identityUniProt · HPA

UniProt accession

Q92685

Gene

ALG3

Ensembl

ENSG00000214160

Chromosome

3

Canonical length

438 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

438 residues, UniProt reviewed canonical sequence.

>Q92685|ALG3
     1  MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC LAEVGITFWV
    61  IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY PAGFVYIFMG LYYATSRGTD
   121  IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA SYRVHSIFVL RLFNDPVAMV
   181  LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG
   241  LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL
   301  LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI CFSRSLHYQF
   361  YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP STSCSSAALH ICHAVILLQL
   421  WLGPQPFPKS TQHSKKAH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG3 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)

0.26

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG3.

Disease | AllUniProt

Conditions ALG3 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1D (CDG1D) MIM:601110

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 266 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG3-congenital disorder of glycosylation
• Inborn genetic diseases
• Congenital disorder of glycosylation

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)

1.19

gnomAD pLI

0

gnomAD missense Z

-0.32

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% 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-1,3-mannosyltransferase activity
• dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Glycosyltransferase, ALG3
• ALG3 protein

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of ALG3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CREB3