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

Gene ID: 199857, updated on 5-Aug-2018

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; Vega:OTTHUMG00000010781
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
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

Genomic context

See ALG14 in Genome Data Viewer
Location:
1p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (94981565..95072974, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (95448279..95538512, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene calponin 3 Neighboring gene hCG2028352-like Neighboring gene uncharacterized LOC105378863 Neighboring gene uncharacterized LOC101928098 Neighboring gene TMEM56-RWDD3 readthrough Neighboring gene transmembrane protein 56 Neighboring gene uncharacterized LOC101928118 Neighboring gene RWD domain containing 3

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Myasthenic syndrome, congenital, 15 Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC19780

Gene Ontology Provided by GOA

Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UDP-N-acetylglucosamine transferase subunit ALG14 homolog

NCBI Reference Sequences (RefSeq)

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_042044.1 RefSeqGene

    Range
    5001..95229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305242.1NP_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)
    AK289395, AW242346
    UniProtKB/Swiss-Prot
    Q96F25
    Conserved Domains (1) summary
    cl10013
    Location:3992
    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_144988.3NP_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)
    AK289395
    Consensus CDS
    CCDS752.1
    UniProtKB/Swiss-Prot
    Q96F25
    Related
    ENSP00000359224.4, OTTHUMP00000012469, ENST00000370205.5, OTTHUMT00000029699
    Conserved Domains (1) summary
    pfam08660
    Location:39215
    Alg14; Oligosaccharide biosynthesis protein Alg14 like

RNA

  1. NR_131032.1 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)
    AK289395, HY073066

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    94981565..95072974 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540897.2XP_011539199.1  UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform X2

    Conserved Domains (1) summary
    cl10013
    Location:39141
    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. XM_005270582.4XP_005270639.1  UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform X1

    Conserved Domains (1) summary
    cl10013
    Location:39141
    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_001737025.1 RNA Sequence

  2. XR_001737024.1 RNA Sequence

  3. XR_946568.3 RNA Sequence

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