ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALG14provided by HGNC
Official Full Name: ALG14 UDP-N-acetylglucosaminyltransferase subunitprovided by HGNC
Primary source: HGNC:HGNC:28287
See related: Ensembl:ENSG00000172339 MIM:612866; AllianceGenome:HGNC:28287
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMS15; MEPCA; IDDEBF
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 2.5), thyroid (RPKM 2.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (94974405..95072951, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (94822745..94921349, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (95439961..95538507, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
Title: A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14.
Title: Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
New ALG14 congenital disorder of glycosylation with early and lethal neurodegeneration with myasthenic and myopathic features.
Title: Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome
Title: Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase
Title: Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 15 MedGen: C4015596 OMIM: 616227 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MedGen: C5436646 OMIM: 619031 GeneReviews: Not available	Compare labs
Myopathy, epilepsy, and progressive cerebral atrophy MedGen: C5436652 OMIM: 619036 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of asparagine-linked glycosylation 14 homolog (ALG14) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL009906 (e-PCR)
- UniSTS:16447

AL009319 (e-PCR)
- UniSTS:44621

RH123629 (e-PCR)
- UniSTS:136049

SHGC-84177 (e-PCR)
- UniSTS:182144

D1S2819 (e-PCR), detects polymorphism
- UniSTS:51107

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-membrane adaptor activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dolichol-linked oligosaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dolichol-linked oligosaccharide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of UDP-N-acetylglucosamine transferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of UDP-N-acetylglucosamine transferase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic side of endoplasmic reticulum membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: UDP-N-acetylglucosamine transferase subunit ALG14

Names: UDP-N-acetylglucosamine transferase subunit ALG14 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042044.2 RefSeqGene

Range

5000..103546

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001305242.2 → NP_001292171.1 UDP-N-acetylglucosamine transferase subunit ALG14 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the central coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC105942, AK289395, AW242346

UniProtKB/Swiss-Prot

Q96F25

Conserved Domains (1) summary

cl10013
Location:39 → 92

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
NM_144988.4 → NP_659425.1 UDP-N-acetylglucosamine transferase subunit ALG14 isoform 1

See identical proteins and their annotated locations for NP_659425.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC105942, AK289395

Consensus CDS

CCDS752.1

UniProtKB/Swiss-Prot

A8K030, Q96F25

Related

ENSP00000359224.4, ENST00000370205.6

Conserved Domains (1) summary

pfam08660
Location:39 → 215

Alg14; Oligosaccharide biosynthesis protein Alg14 like

RNA

NR_131032.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC105942, AK289395, HY073066

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

94974405..95072951 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270582.5 → XP_005270639.1 UDP-N-acetylglucosamine transferase subunit ALG14 isoform X1

Conserved Domains (1) summary

cl10013
Location:39 → 141

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...