Aliases for ALG14 Gene
Aliases for ALG14 Gene
External Ids for ALG14 Gene
- HGNC: 28287
- Entrez Gene: 199857
- Ensembl: ENSG00000172339
- OMIM: 612866
- UniProtKB: Q96F25
Previous GeneCards Identifiers for ALG14 Gene
- GC01M095161
- GC01M095449
- GC01M093570
Summaries 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 and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are N-Glycan biosynthesis 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.
Additional gene information for ALG14 Gene
- Monarch Initiative
- Search for ALG14 at DataMed
- Search for ALG14 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG14 Gene
Genomics for ALG14 Gene
GeneHancer (GH) Regulatory Elements for ALG14 Gene
Promoters and enhancers for ALG14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALG14 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ALG14 gene promoter:
-
- p300
- LyF-1
- FOXO4
- HOXA9
- HOXA9B
- Meis-1
- Meis-1b
- Nkx2-5
- HNF-3beta
- Evi-1
Regulatory Element Products
Genomic Locations for ALG14 Gene
Genomic Locations for ALG14 Gene
- chr1:94,974,407-95,072,964
- (GRCh38/hg38)
- Size:
- 98,558 bases
- Orientation:
- Minus strand
- chr1:95,439,963-95,538,507
- (GRCh37/hg19)
- Size:
- 98,545 bases
- Orientation:
- Minus strand
Genomic View for ALG14 Gene
Genes around ALG14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p21.3 by Entrez Gene
- 1p21.3 by HGNC
- 1p21.3 by Ensembl
ALG14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ALG14 Gene
Post-translational modifications for ALG14 Gene
Other Protein References for ALG14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ALG14
- Invitrogen Antibodies for ALG14 (AFLGC-ALG14)
- GeneTex ALG14 Antibody for ALG14
Protein Products
-
OriGene Purified Proteins for ALG14
- Search Origene for MassSpec and Protein Over-expression Lysates for ALG14
- Origene Custom Protein Services for ALG14
- antibodies-online: Search results for 4 available ALG14 Proteins ranked by validation data
- Compare Top ALG14 Proteins
-
Quality Products:
- Search GeneTex for Proteins for ALG14
Assay Products
No data available for DME Specific Peptides for ALG14 Gene
Domains & Families for ALG14 Gene
Gene Families for ALG14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for ALG14 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALG14 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96F25- Family:
-
- Belongs to the ALG14 family.
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.
Phenotypes From GWAS Catalog for ALG14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004577 | N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity | TAS | -- |
Phenotypes for ALG14 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALG14
-
CRISPR Products
-
OriGene CRISPR knockouts for ALG14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG14
- genomics-online: gRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- Applied Biological Materials CRISPR for ALG14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG14
- GenScript: Design CRISPR guide RNA sequences for ALG14
miRNA for ALG14 Gene
- miRTarBase miRNAs that target ALG14
-
- hsa-mir-606 (MIRT348788)
- hsa-mir-4477a (MIRT441824)
- hsa-mir-506-3p (MIRT441825)
- hsa-mir-124-3p (MIRT441826)
- hsa-mir-496 (MIRT441827)
- hsa-mir-4742-3p (MIRT441828)
- hsa-mir-3664-5p (MIRT441829)
- hsa-mir-4714-5p (MIRT441830)
- hsa-mir-514a-5p (MIRT441831)
- hsa-mir-4753-5p (MIRT441832)
- hsa-mir-8055 (MIRT445870)
- hsa-mir-526b-5p (MIRT445871)
- hsa-mir-3157-5p (MIRT445872)
- hsa-mir-4468 (MIRT445873)
- hsa-mir-205-3p (MIRT445874)
- hsa-mir-7161-3p (MIRT445875)
- hsa-mir-4314 (MIRT560441)
- hsa-mir-7-5p (MIRT560442)
- hsa-mir-1253 (MIRT560443)
- hsa-mir-6859-5p (MIRT560444)
- hsa-mir-3916 (MIRT560445)
- hsa-mir-3125 (MIRT560446)
- hsa-mir-5197-3p (MIRT560447)
- hsa-mir-6807-5p (MIRT571061)
- hsa-mir-582-5p (MIRT571062)
- hsa-mir-101-3p (MIRT571063)
- hsa-mir-4676-5p (MIRT571064)
- hsa-mir-575 (MIRT571065)
- hsa-mir-4735-3p (MIRT571066)
- hsa-mir-18b-5p (MIRT571067)
- hsa-mir-18a-5p (MIRT571068)
- hsa-mir-7703 (MIRT660724)
- hsa-mir-500a-3p (MIRT660725)
- hsa-mir-6720-5p (MIRT660726)
- hsa-mir-6512-3p (MIRT660727)
- hsa-mir-6729-5p (MIRT660728)
- hsa-mir-4649-5p (MIRT660729)
- hsa-mir-6717-5p (MIRT660730)
- hsa-mir-661 (MIRT660731)
- hsa-mir-767-5p (MIRT660732)
- hsa-mir-8082 (MIRT660733)
- hsa-mir-4534 (MIRT660734)
- hsa-mir-5186 (MIRT660735)
- hsa-mir-4486 (MIRT660736)
- hsa-mir-4793-3p (MIRT660737)
- hsa-mir-766-3p (MIRT660738)
- hsa-mir-939-3p (MIRT660739)
- hsa-mir-6849-3p (MIRT660740)
- hsa-mir-1273g-3p (MIRT660741)
- hsa-mir-92b-3p (MIRT660742)
- hsa-mir-92a-3p (MIRT660743)
- hsa-mir-367-3p (MIRT660744)
- hsa-mir-363-3p (MIRT660745)
- hsa-mir-32-5p (MIRT660746)
- hsa-mir-25-3p (MIRT660747)
- hsa-mir-508-5p (MIRT660748)
- hsa-mir-5698 (MIRT669539)
- hsa-mir-4659b-5p (MIRT669540)
- hsa-mir-4659a-5p (MIRT669541)
- hsa-mir-7641 (MIRT669542)
- hsa-mir-143-5p (MIRT669543)
- hsa-mir-6879-3p (MIRT669544)
- hsa-mir-4430 (MIRT669545)
- hsa-mir-3652 (MIRT669546)
- hsa-mir-122-5p (MIRT669547)
- hsa-mir-504-3p (MIRT669548)
- hsa-mir-3135b (MIRT669549)
- hsa-mir-6499-3p (MIRT669550)
- hsa-mir-4695-3p (MIRT669551)
- hsa-mir-215-3p (MIRT669552)
- hsa-mir-6773-3p (MIRT669553)
- hsa-mir-500b-3p (MIRT669554)
- hsa-mir-6858-5p (MIRT705760)
- hsa-mir-4689 (MIRT705761)
- hsa-mir-4710 (MIRT705762)
- hsa-mir-139-3p (MIRT705763)
- hsa-mir-7854-3p (MIRT705764)
- hsa-mir-4784 (MIRT705765)
- hsa-mir-3150b-3p (MIRT705766)
- hsa-mir-1273f (MIRT705767)
- hsa-mir-4786-5p (MIRT705768)
- hsa-mir-664a-5p (MIRT705769)
- hsa-mir-4794 (MIRT705770)
- hsa-mir-8073 (MIRT705771)
- hsa-mir-221-5p (MIRT705772)
- hsa-mir-4793-5p (MIRT705773)
- hsa-mir-1288-5p (MIRT705774)
- hsa-mir-3681-3p (MIRT705775)
- hsa-mir-216a-3p (MIRT705776)
- hsa-mir-128-3p (MIRT705777)
- hsa-mir-6888-5p (MIRT705778)
- hsa-mir-6502-3p (MIRT705779)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG14
- Browse OriGene Inhibitory RNA Products For ALG14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG14
- genomics-online: shRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALG14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG14
- Applied Biological Materials Clones for ALG14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| nucleus | 4 |
| plasma membrane | 3 |
| extracellular | 1 |
| cytosol | 1 |
- Nucleoli (2)
- Nucleus (2)
| 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 | -- |
Pathways & Interactions for ALG14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Metabolism | ||
| 3 | N-Glycan biosynthesis | ||
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Synthesis of substrates in N-glycan biosythesis | ||
Pathways by source for ALG14 Gene
2 KEGG pathways for ALG14 Gene
Interacting Proteins for ALG14 Gene
GPS-Prot Interaction Network for ALG14
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | TAS | -- |
No data available for SIGNOR curated interactions for ALG14 Gene
Transcripts for ALG14 Gene
mRNA/cDNA for ALG14 Gene
- (4) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (173) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000370205 9367 bps (uc001dra.3)
- ENST00000507727 159 bps (uc057imn.1)
- ENST00000495856 446 bps (uc057imo.1)
Unigene Clusters for ALG14 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ALG14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG14
- genomics-online: gRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- Applied Biological Materials CRISPR for ALG14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG14
- GenScript: Design CRISPR guide RNA sequences for ALG14
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG14
- Browse OriGene Inhibitory RNA Products For ALG14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG14
- genomics-online: shRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALG14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG14
- Applied Biological Materials Clones for ALG14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||
| SP3: |
Expression for ALG14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Nasal epithelium (66.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG14 Gene
NURSA nuclear receptor signaling pathways regulating expression of ALG14 Gene:
ALG14SOURCE GeneReport for Unigene cluster for ALG14 Gene:
Hs.408927Evidence 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for ALG14
-
OriGene qPCR primer pairs and template standards for ALG14
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALG14 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ALG14 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Alg14 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Alg14 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ALG14 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ALG14 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ALG14 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ALG14 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ALG14 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | alg14 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | alg14 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003461 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6308 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | hpo-16 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG14 36 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G18230 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg14 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALG14: view image
Paralogs for ALG14 Gene
No data available for Paralogs for ALG14 Gene
Variants for ALG14 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs139521179 | uncertain-significance, likely-benign, not specified, Myasthenic syndrome, congenital, 15 | 95,072,786(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs141065009 | benign, Myasthenic syndrome, congenital, 15 | 95,064,983(-) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs148202016 | likely-benign, Myasthenic syndrome, congenital, 15 | 94,983,175(-) | G/A | 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs150452802 | uncertain-significance, Myasthenic syndrome, congenital, 15 | 95,027,160(-) | A/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs199846785 | likely-benign, Myasthenic syndrome, congenital, 15 | 94,983,181(-) | G/A | 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant |
| 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 |
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)
Additional Variant Information for ALG14 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG14 Gene
Disorders for ALG14 Gene
(3) MalaCards diseases for ALG14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myasthenic syndrome, congenital, 15 |
|
|
| congenital myasthenic syndromes with glycosylation defect |
|
|
| congenital myasthenic syndrome |
|
|
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.
Additional Disease Information for ALG14
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ALG14 Gene
Publications for ALG14 Gene
- Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (PMID: 23404334) Cossins J … Beeson D (Brain : a journal of neurology 2013) 2 3 4 58
- Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 44 58
- 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 XD … Dean N (The Journal of biological chemistry 2005) 3 4 58
- 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 SE (The Journal of biological chemistry 2005) 2 3 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
Products for ALG14 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
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- Browse ELISpot/FluoroSpot Kits and Development Modules
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- Browse Antibodies
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- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for ALG14 (AFLGC-ALG14)
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- antibodies-online: Search results for 21 available ALG14 Antibodies ranked by validation data
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- antibodies-online: Search results for available ALG14 related products ranked by validation data
- antibodies-online: Search results for 4 available ALG14 Proteins ranked by validation data
- Compare Top ALG14 Proteins
- Quality Products:
- GeneTex ALG14 Antibody for ALG14
- Search GeneTex for Proteins for ALG14
- genomics-online: cdna clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- orf clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- genomics-online: gRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- genomics-online: primer clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- genomics-online: shRNA clones - Search results for 105 available ALG14 gene related products
- Overview of 105 available ALG14 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG14
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Sources for ALG14 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt