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

    Gene ID: 199857, updated on 5-Mar-2024

    Summary

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    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

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    Location:
    1p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (94974405..95072951, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (94822745..94921349, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (95439961..95538507, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1100 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:95302044-95303243 Neighboring gene solute carrier family 44 member 3 Neighboring gene NANOG hESC enhancer GRCh37_chr1:95331914-95332415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9624 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:95349823-95350709 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:95376115-95377314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95385599-95386099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:95401156-95402010 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:95402011-95402865 Neighboring gene calponin 3 Neighboring gene CNN3 divergent transcript Neighboring gene uncharacterized LOC124904224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1351 Neighboring gene uncharacterized LOC105378863 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:95508724-95509332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95509333-95509941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1352 Neighboring gene ALG14 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7351 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7352 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1354 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7357 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7358 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1104 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:95582918-95583064 Neighboring gene TLCD4-RWDD3 readthrough Neighboring gene TLC domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95600812-95601312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95601313-95601813 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:95602368-95602560 Neighboring gene RWDD3 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95682171-95682671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1106 Neighboring gene RWD domain containing 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. Palombo F, et al. Am J Med Genet A, 2021 Jun. PMID 33751823
    2. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Kvarnung M, et al. Clin Genet, 2018 Dec. PMID 30221345
    3. Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. Schorling DC, et al. Neurology, 2017 Aug 15. PMID 28733338, Free PMC Article
    4. Two proteins homologous to the N- and C-terminal domains of the bacterial glycosyltransferase Murg are required for the second step of dolichyl-linked oligosaccharide synthesis in Saccharomyces cerevisiae. Chantret I, et al. J Biol Chem, 2005 Mar 11. PMID 15615718
    5. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Cossins J, et al. Brain, 2013 Mar. PMID 23404334, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19780

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of UDP-N-acetylglucosamine transferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred 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

    1. NG_042044.2 RefSeqGene

      Range
      5000..103546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. NM_144988.4 → NP_659425.1  UDP-N-acetylglucosamine transferase subunit ALG14 homolog 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

    1. 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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      94974405..95072951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    RNA

    1. XR_001737025.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      94822745..94921349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334875.1 → XP_054190850.1  UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform X1

    RNA

    1. XR_008485952.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96F25.1 GenPept UniProtKB/Swiss-Prot:Q96F25

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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