UniProtKB - Q96F25 (ALG14_HUMAN)
Protein
UDP-N-acetylglucosamine transferase subunit ALG14 homolog
Gene
ALG14
Organism
Homo sapiens (Human)
Status
Functioni
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.1 Publication
GO - Biological processi
- dolichol-linked oligosaccharide biosynthetic process Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q96F25 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-5633231, Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) |
Protein family/group databases
CAZyi | GT1, Glycosyltransferase Family 1 |
Names & Taxonomyi
Protein namesi | Recommended name: UDP-N-acetylglucosamine transferase subunit ALG14 homolog |
Gene namesi | Name:ALG14 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28287, ALG14 |
MIMi | 612866, gene |
neXtProti | NX_Q96F25 |
VEuPathDBi | HostDB:ENSG00000172339.9 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass membrane protein Sequence analysis
Nucleus
- Nucleus membrane By similarity; Single-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
- UDP-N-acetylglucosamine transferase complex Source: GO_Central
Nucleus
- nuclear membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 3 | LumenalBy similarity | 3 | |
Transmembranei | 4 – 24 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 25 – 216 | CytoplasmicBy similarityAdd BLAST | 192 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Myasthenic syndrome, congenital, 15 (CMS15)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073331 | 65 | P → L in CMS15; results in a severe reduction in protein expression; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882050EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital myasthenic syndrome, Disease variantOrganism-specific databases
DisGeNETi | 199857 |
GeneReviewsi | ALG14 |
MalaCardsi | ALG14 |
MIMi | 616227, phenotype |
OpenTargetsi | ENSG00000172339 |
Orphaneti | 353327, Congenital myasthenic syndromes with glycosylation defect |
PharmGKBi | PA142672628 |
Miscellaneous databases
Pharosi | Q96F25, Tbio |
Genetic variation databases
BioMutai | ALG14 |
DMDMi | 74731649 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000265116 | 1 – 216 | UDP-N-acetylglucosamine transferase subunit ALG14 homologAdd BLAST | 216 |
Proteomic databases
EPDi | Q96F25 |
jPOSTi | Q96F25 |
MassIVEi | Q96F25 |
MaxQBi | Q96F25 |
PaxDbi | Q96F25 |
PeptideAtlasi | Q96F25 |
PRIDEi | Q96F25 |
ProteomicsDBi | 76488 |
PTM databases
iPTMneti | Q96F25 |
PhosphoSitePlusi | Q96F25 |
Expressioni
Gene expression databases
Bgeei | ENSG00000172339, Expressed in sural nerve and 197 other tissues |
Genevisiblei | Q96F25, HS |
Organism-specific databases
HPAi | ENSG00000172339, Low tissue specificity |
Interactioni
Subunit structurei
Heterodimer with ALG13 isoform 2 to form a functional enzyme.
By similarityProtein-protein interaction databases
BioGRIDi | 128278, 9 interactors |
IntActi | Q96F25, 4 interactors |
STRINGi | 9606.ENSP00000359224 |
Miscellaneous databases
RNActi | Q96F25, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the ALG14 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3339, Eukaryota |
GeneTreei | ENSGT00390000002579 |
HOGENOMi | CLU_064541_2_0_1 |
InParanoidi | Q96F25 |
OMAi | TIYVESW |
OrthoDBi | 1449763at2759 |
PhylomeDBi | Q96F25 |
TreeFami | TF105628 |
Family and domain databases
InterProi | View protein in InterPro IPR013969, Oligosacch_biosynth_Alg14 |
PANTHERi | PTHR12154, PTHR12154, 1 hit |
Pfami | View protein in Pfam PF08660, Alg14, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96F25-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVCVLVLAAA AGAVAVFLIL RIWVVLRSMD VTPRESLSIL VVAGSGGHTT
60 70 80 90 100
EILRLLGSLS NAYSPRHYVI ADTDEMSANK INSFELDRAD RDPSNMYTKY
110 120 130 140 150
YIHRIPRSRE VQQSWPSTVF TTLHSMWLSF PLIHRVKPDL VLCNGPGTCV
160 170 180 190 200
PICVSALLLG ILGIKKVIIV YVESICRVET LSMSGKILFH LSDYFIVQWP
210
ALKEKYPKSV YLGRIV
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029635 | 14 | V → M. Corresponds to variant dbSNP:rs11165298EnsemblClinVar. | 1 | |
Natural variantiVAR_073331 | 65 | P → L in CMS15; results in a severe reduction in protein expression; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882050EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK289395 mRNA Translation: BAF82084.1 CH471097 Genomic DNA Translation: EAW73027.1 BC011706 mRNA Translation: AAH11706.1 |
CCDSi | CCDS752.1 |
RefSeqi | NP_001292171.1, NM_001305242.1 NP_659425.1, NM_144988.3 |
Genome annotation databases
Ensembli | ENST00000370205; ENSP00000359224; ENSG00000172339 |
GeneIDi | 199857 |
KEGGi | hsa:199857 |
UCSCi | uc001dra.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK289395 mRNA Translation: BAF82084.1 CH471097 Genomic DNA Translation: EAW73027.1 BC011706 mRNA Translation: AAH11706.1 |
CCDSi | CCDS752.1 |
RefSeqi | NP_001292171.1, NM_001305242.1 NP_659425.1, NM_144988.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128278, 9 interactors |
IntActi | Q96F25, 4 interactors |
STRINGi | 9606.ENSP00000359224 |
Protein family/group databases
CAZyi | GT1, Glycosyltransferase Family 1 |
PTM databases
iPTMneti | Q96F25 |
PhosphoSitePlusi | Q96F25 |
Genetic variation databases
BioMutai | ALG14 |
DMDMi | 74731649 |
Proteomic databases
EPDi | Q96F25 |
jPOSTi | Q96F25 |
MassIVEi | Q96F25 |
MaxQBi | Q96F25 |
PaxDbi | Q96F25 |
PeptideAtlasi | Q96F25 |
PRIDEi | Q96F25 |
ProteomicsDBi | 76488 |
Protocols and materials databases
Antibodypediai | 53384, 80 antibodies |
DNASUi | 199857 |
Genome annotation databases
Ensembli | ENST00000370205; ENSP00000359224; ENSG00000172339 |
GeneIDi | 199857 |
KEGGi | hsa:199857 |
UCSCi | uc001dra.3, human |
Organism-specific databases
CTDi | 199857 |
DisGeNETi | 199857 |
GeneCardsi | ALG14 |
GeneReviewsi | ALG14 |
HGNCi | HGNC:28287, ALG14 |
HPAi | ENSG00000172339, Low tissue specificity |
MalaCardsi | ALG14 |
MIMi | 612866, gene 616227, phenotype |
neXtProti | NX_Q96F25 |
OpenTargetsi | ENSG00000172339 |
Orphaneti | 353327, Congenital myasthenic syndromes with glycosylation defect |
PharmGKBi | PA142672628 |
VEuPathDBi | HostDB:ENSG00000172339.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3339, Eukaryota |
GeneTreei | ENSGT00390000002579 |
HOGENOMi | CLU_064541_2_0_1 |
InParanoidi | Q96F25 |
OMAi | TIYVESW |
OrthoDBi | 1449763at2759 |
PhylomeDBi | Q96F25 |
TreeFami | TF105628 |
Enzyme and pathway databases
PathwayCommonsi | Q96F25 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-5633231, Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) |
Miscellaneous databases
BioGRID-ORCSi | 199857, 631 hits in 1005 CRISPR screens |
ChiTaRSi | ALG14, human |
GeneWikii | ALG14 |
GenomeRNAii | 199857 |
Pharosi | Q96F25, Tbio |
PROi | PR:Q96F25 |
RNActi | Q96F25, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172339, Expressed in sural nerve and 197 other tissues |
Genevisiblei | Q96F25, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013969, Oligosacch_biosynth_Alg14 |
PANTHERi | PTHR12154, PTHR12154, 1 hit |
Pfami | View protein in Pfam PF08660, Alg14, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ALG14_HUMAN | |
Accessioni | Q96F25Primary (citable) accession number: Q96F25 Secondary accession number(s): A8K030 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 12, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 142 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families