ALG8

Protein identityUniProt · HPA

UniProt accession

Q9BVK2

Gene

ALG8

Ensembl

ENSG00000159063

Chromosome

11

Canonical length

526 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

526 residues, UniProt reviewed canonical sequence.

>Q9BVK2|ALG8
     1  MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT
    61  SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA
   121  VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL
   181  FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS
   241  LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG
   301  LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR
   361  GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL
   421  LFTAPELPIK ILLMLLFTIY SISSLKTLFR KEKPLFNWME TFYLLGLGPL EVCCEFVFPF
   481  TSWKVKYPFI PLLLTSVYCA VGITYAWFKL YVSVLIDSAI GKTKKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG8 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)

0.24

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG8.

Disease | AllUniProt

Conditions ALG8 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1H (CDG1H) MIM:608104
• Polycystic liver disease 3 with or without kidney cysts (PCLD3) MIM:617874

Disease | GeneticClinVar

65 pathogenic / likely-pathogenic of 484 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG8 congenital disorder of glycosylation
• Polycystic liver disease 3 with or without kidney cysts
• ALG8-related disorder
• Familial cystic renal disease
• Autosomal dominant polycystic liver disease

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)

0.83

gnomAD pLI

0

gnomAD missense Z

0.6

DepMap mean gene effect

-0.3

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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
• protein N-linked glycosylation via asparagine

Molecular functions

• dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity
• dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• lumenal side of endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

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