ALG14

Protein identityUniProt · HPA

UniProt accession

Q96F25

Gene

ALG14

Ensembl

ENSG00000172339

Chromosome

1

Canonical length

216 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI Gene

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

216 residues, UniProt reviewed canonical sequence.

>Q96F25|ALG14
     1  MVCVLVLAAA AGAVAVFLIL RIWVVLRSMD VTPRESLSIL VVAGSGGHTT EILRLLGSLS
    61  NAYSPRHYVI ADTDEMSANK INSFELDRAD RDPSNMYTKY YIHRIPRSRE VQQSWPSTVF
   121  TTLHSMWLSF PLIHRVKPDL VLCNGPGTCV PICVSALLLG ILGIKKVIIV YVESICRVET
   181  LSMSGKILFH LSDYFIVQWP ALKEKYPKSV YLGRIV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG14 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)

0.29

Highest tissue expression

2.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG14.

Disease | AllUniProt

Conditions ALG14 is implicated in, by any mechanism.

• Myasthenic syndrome, congenital, 15 (CMS15) MIM:616227
• Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF) MIM:619031
• Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) MIM:619036

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 169 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital myasthenic syndrome 15

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)

1.2

gnomAD pLI

0

gnomAD missense Z

0.27

DepMap mean gene effect

-0.76

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

• protein-membrane adaptor activity

Cellular components

• cytoplasmic side of endoplasmic reticulum membrane
• endoplasmic reticulum membrane
• UDP-N-acetylglucosamine transferase complex

Protein domainsUniProt · Pfam · InterPro

• Oligosaccharide biosynthesis protein Alg14-like
• Oligosaccharide biosynthesis protein Alg14 like

KeywordsUniProt

• Congenital myasthenic syndrome
• Endoplasmic reticulum
• Epilepsy
• Intellectual disability
• Membrane
• Neurodegeneration
• Transmembrane
• Transmembrane helix