Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALG14 Gene

Aliases for ALG14 Gene

  • ALG14, UDP-N-Acetylglucosaminyltransferase Subunit 2 3 5
  • Asparagine-Linked Glycosylation 14 Homolog (S. Cerevisiae) 2
  • UDP-N-Acetylglucosamine Transferase Subunit ALG14 Homolog 3
  • Asparagine-Linked Glycosylation 14 Homolog (Yeast) 2
  • CMS15 3

External Ids for ALG14 Gene

Previous GeneCards Identifiers for ALG14 Gene

  • GC01M095161
  • GC01M095449
  • GC01M093570

Summaries for ALG14 Gene

Entrez Gene Summary for ALG14 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]

GeneCards Summary for ALG14 Gene

ALG14 (ALG14, UDP-N-Acetylglucosaminyltransferase Subunit) is a Protein Coding gene. Diseases associated with ALG14 include Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins.

UniProtKB/Swiss-Prot for ALG14 Gene

  • May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.

Gene Wiki entry for ALG14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG14 Gene

Genomics for ALG14 Gene

Regulatory Elements for ALG14 Gene

Enhancers for ALG14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G095082 1.8 VISTA Ensembl ENCODE dbSUPER 9 -12.6 -12641 5.2 PKNOX1 ATF1 FOXA2 ARNT ARID4B TCF12 ZNF121 GATA2 ZNF143 FOS RWDD3 ENSG00000231992 LOC101928098 LOC101928118 ALG14 LOC729970 GC01M095084 TMEM56
GH01G095013 1.4 Ensembl ENCODE dbSUPER 10.1 +59.0 58964 1.2 ELF3 FOXA2 MLX ARID4B RAD21 RARA SLC30A9 GATA4 CREM MIXL1 LOC101928098 ALG14 ENSG00000228852 GC01M094924 GC01M094925 LOC105378863
GH01G094953 1.1 Ensembl ENCODE dbSUPER 9.7 +117.8 117794 3.0 JUN THRB NR2F2 YY1 SMARCA4 GATA2 HNF4A FOS ZFX LOC729970 LOC101928098 ALG14 ENSG00000228852 GC01M094924 GC01M094925
GH01G094978 1.1 Ensembl ENCODE dbSUPER 9.1 +91.5 91505 5.3 GATAD2A SAP130 ZFP64 HLF NR3C1 JUND FOS MAFK LOC729970 CNN3 LOC101928098 ALG14 TMEM56 ENSG00000228852 GC01M094924 GC01M094925
GH01G095020 1.1 Ensembl ENCODE dbSUPER 8.5 +50.1 50116 3.9 JUN HLF RAD21 ZFHX2 JUND ZFP3 SCRT2 FOS PRDM1 EGR2 CNN3 LOC729970 ALG14 RWDD3 ENSG00000228852 LOC105378863 GC01M094925 GC01M094924
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG14 on UCSC Golden Path with GeneCards custom track

Promoters for ALG14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010250 164 1601 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

Genomic Location for ALG14 Gene

Chromosome:
1
Start:
94,974,407 bp from pter
End:
95,072,964 bp from pter
Size:
98,558 bases
Orientation:
Minus strand

Genomic View for ALG14 Gene

Genes around ALG14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG14 Gene

Proteins for ALG14 Gene

  • Protein details for ALG14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96F25-ALG14_HUMAN
    Recommended name:
    UDP-N-acetylglucosamine transferase subunit ALG14 homolog
    Protein Accession:
    Q96F25
    Secondary Accessions:
    • A8K030

    Protein attributes for ALG14 Gene

    Size:
    216 amino acids
    Molecular mass:
    24151 Da
    Quaternary structure:
    • Heterodimer with ALG13 isoform 2 to form a functional enzyme.

neXtProt entry for ALG14 Gene

Post-translational modifications for ALG14 Gene

  • Ubiquitination at Lys99
  • Modification sites at PhosphoSitePlus

Other Protein References for ALG14 Gene

No data available for DME Specific Peptides for ALG14 Gene

Domains & Families for ALG14 Gene

Gene Families for ALG14 Gene

Protein Domains for ALG14 Gene

Suggested Antigen Peptide Sequences for ALG14 Gene

Graphical View of Domain Structure for InterPro Entry

Q96F25

UniProtKB/Swiss-Prot:

ALG14_HUMAN :
  • Belongs to the ALG14 family.
Family:
  • Belongs to the ALG14 family.
genes like me logo Genes that share domains with ALG14: view

Function for ALG14 Gene

Molecular function for ALG14 Gene

UniProtKB/Swiss-Prot Function:
May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.

Gene Ontology (GO) - Molecular Function for ALG14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity TAS --
genes like me logo Genes that share ontologies with ALG14: view
genes like me logo Genes that share phenotypes with ALG14: view

Human Phenotype Ontology for ALG14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ALG14 Gene

miRTarBase miRNAs that target ALG14

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG14 Gene

Localization for ALG14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG14 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG14 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
plasma membrane 3
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ALG14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG14: view

Pathways & Interactions for ALG14 Gene

genes like me logo Genes that share pathways with ALG14: view

Interacting Proteins for ALG14 Gene

Gene Ontology (GO) - Biological Process for ALG14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
genes like me logo Genes that share ontologies with ALG14: view

No data available for SIGNOR curated interactions for ALG14 Gene

Transcripts for ALG14 Gene

Unigene Clusters for ALG14 Gene

ALG14, UDP-N-acetylglucosaminyltransferase subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG14 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - - -
SP3:

Relevant External Links for ALG14 Gene

GeneLoc Exon Structure for
ALG14
ECgene alternative splicing isoforms for
ALG14

Expression for ALG14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALG14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ALG14 Gene

This gene is overexpressed in Nasal epithelium (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALG14 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALG14 Gene:

ALG14

SOURCE GeneReport for Unigene cluster for ALG14 Gene:

Hs.408927

Evidence on tissue expression from TISSUES for ALG14 Gene

  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ALG14: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALG14 Gene

Orthologs for ALG14 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG14 34 35
  • 98.3 (n)
dog
(Canis familiaris)
Mammalia ALG14 34 35
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Alg14 34
  • 81.33 (n)
mouse
(Mus musculus)
Mammalia Alg14 35 16 34
  • 81.33 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG14 35
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALG14 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALG14 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG14 34 35
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia ALG14 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg14 34
  • 67.69 (n)
zebrafish
(Danio rerio)
Actinopterygii alg14 34 35
  • 62.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003461 34
  • 52.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6308 34 35
  • 48.21 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-16 35
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG14 35 37
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G18230 34
  • 52.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg14 34
  • 51.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
Species where no ortholog for ALG14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALG14 Gene

ENSEMBL:
Gene Tree for ALG14 (if available)
TreeFam:
Gene Tree for ALG14 (if available)

Paralogs for ALG14 Gene

No data available for Paralogs for ALG14 Gene

Variants for ALG14 Gene

Sequence variations from dbSNP and Humsavar for ALG14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs730882050 Pathogenic, Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227] 95,064,960(-) CTCAC(C/T)TAGAC intron-variant, nc-transcript-variant, reference, missense
rs367570129 Pathogenic 95,027,239(+) AATTC(A/G)GTGAA nc-transcript-variant, reference, missense, stop-gained
rs139521179 Uncertain significance 95,072,786(+) AGATA(A/C/T)TGAGA nc-transcript-variant, reference, missense
rs1000042066 -- 95,064,221(+) TCATC(C/T)GCAAG intron-variant
rs1000099343 -- 95,059,469(+) GATAA(G/T)ATGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALG14 Gene

Variant ID Type Subtype PubMed ID
dgv57n67 CNV loss 20364138
esv1116942 CNV insertion 17803354
esv2670670 CNV deletion 23128226
esv3578014 CNV loss 25503493
esv3586846 CNV loss 21293372
esv5799 CNV loss 19470904
esv993631 CNV insertion 20482838
nsv1142064 CNV tandem duplication 24896259
nsv1152666 CNV insertion 26484159
nsv498675 CNV loss 21111241
nsv513994 CNV loss 21397061
nsv830636 CNV loss 17160897

Variation tolerance for ALG14 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG14 Gene

Human Gene Mutation Database (HGMD)
ALG14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG14 Gene

Disorders for ALG14 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALG14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 15, without tubular aggregates
  • congenital myasthenic syndrome 15
congenital myasthenic syndromes with glycosylation defect
alg14-related congenital myasthenic syndrome without tubular aggregates
  • myasthenic syndrome, congenital without tubular aggregates
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association - COSMIC cancer census association via MalaCards
Search ALG14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG14_HUMAN
  • Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. {ECO:0000269 PubMed:23404334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALG14

Genetic Association Database (GAD)
ALG14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG14
genes like me logo Genes that share disorders with ALG14: view

No data available for Genatlas for ALG14 Gene

Publications for ALG14 Gene

  1. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (PMID: 23404334) Cossins J. … Beeson D. (Brain 2013) 2 3 4 64
  2. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 46 64
  3. 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. (PMID: 16100110) Gao X.-D. … Dean N. (J. Biol. Chem. 2005) 3 4 64
  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. (PMID: 15615718) Chantret I. … Moore S.E. (J. Biol. Chem. 2005) 2 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ALG14 Gene

Sources for ALG14 Gene

Content
Loading form....