ALG14

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 - Molecular functionⁱ

N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity Source: Reactome

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

dolichol-linked oligosaccharide biosynthetic process Source: Reactome

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

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)

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

Carbohydrate-Active enZymes More...CAZyⁱ	GT1 Glycosyltransferase Family 1

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000172339.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28287 ALG14
MIMⁱ	612866 gene
neXtProtⁱ	NX_Q96F25

Topology

Feature key	Position(s)	DescriptionActions	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, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Myasthenic syndrome, congenital, 15 (CMS15)1 Publication

The disease is caused by mutations 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.

Feature 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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	199857
MalaCards human disease database More...MalaCardsⁱ	ALG14
MIMⁱ	616227 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000172339
Orphanetⁱ	353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBⁱ	PA142672628

Polymorphism and mutation 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
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96F25
PaxDbⁱ	Q96F25
PeptideAtlas More...PeptideAtlasⁱ	Q96F25
PRIDEⁱ	Q96F25
ProteomicsDBⁱ	76488

PTM databases

iPTMnetⁱ	Q96F25
PhosphoSitePlusⁱ	Q96F25

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_ALG14
Genevisibleⁱ	Q96F25 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA031829

HPAⁱ

HPA031829

Interactionⁱ

Subunit structureⁱ

Heterodimer with ALG13 isoform 2 to form a functional enzyme.By similarity

Protein-protein interaction databases

BioGridⁱ	128278, 7 interactors
STRINGⁱ	9606.ENSP00000359224

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96F25
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the ALG14 family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3339 Eukaryota ENOG4111QSM LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002579
HOGENOMⁱ	HOG000182099
HOVERGENⁱ	HBG059605
InParanoidⁱ	Q96F25
KEGG Orthology (KO) More...KOⁱ	K07441
OMAⁱ	ESICRVK
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0K4A
PhylomeDBⁱ	Q96F25
TreeFamⁱ	TF105628

Family and domain databases

InterProⁱ	View protein in InterPro IPR013969 Oligosacch_biosynth_Alg14
PANTHERⁱ	PTHR12154 PTHR12154, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF08660 Alg14, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q96F25-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:216

Mass (Da):24,151

Last modified:December 1, 2001 - v1

Checksum:ⁱ0724FEAE33A841E8

GO

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS752.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001292171.1, NM_001305242.1 NP_659425.1, NM_144988.3
UniGeneⁱ	Hs.408927

Genome annotation databases

Ensemblⁱ	ENST00000370205; ENSP00000359224; ENSG00000172339
GeneIDⁱ	199857
KEGGⁱ	hsa:199857
UCSC genome browser More...UCSCⁱ	uc001dra.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96F25	UDP-N-acetylglucosamine transferase subunit ALG14 homolog		MACMU		216	UniRef90_Q96F25
ALG14 isoform 1		PANTR		216
ALG14 isoform 1		PONAB		216
Uncharacterized protein		CERAT		216
Uncharacterized protein		COLAP		216
+17

Protein	Similar proteins		Species	Score	Length	Source
Q96F25	ALG14, UDP-N-acetylglucosaminyltransferase subunit		GORGO		216	UniRef50_Q96F25
UDP-N-acetylglucosamine transferase subunit ALG14 homolog		MACMU		216
Uncharacterized protein		MACFA		216
Uncharacterized protein		RHIRO		216
Uncharacterized protein		NOMLE		216
+29

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
UniGeneⁱ	Hs.408927

3D structure databases

ProteinModelPortalⁱ	Q96F25
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	128278, 7 interactors
STRINGⁱ	9606.ENSP00000359224

Protein family/group databases

CAZyⁱ	GT1 Glycosyltransferase Family 1

CAZyⁱ

GT1 Glycosyltransferase Family 1

PTM databases

iPTMnetⁱ	Q96F25
PhosphoSitePlusⁱ	Q96F25

Polymorphism and mutation databases

BioMutaⁱ	ALG14
DMDMⁱ	74731649

Proteomic databases

EPDⁱ	Q96F25
MaxQBⁱ	Q96F25
PaxDbⁱ	Q96F25
PeptideAtlasⁱ	Q96F25
PRIDEⁱ	Q96F25
ProteomicsDBⁱ	76488

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	199857
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000370205; ENSP00000359224; ENSG00000172339
GeneIDⁱ	199857
KEGGⁱ	hsa:199857
UCSCⁱ	uc001dra.3 human

Organism-specific databases

CTDⁱ	199857
DisGeNETⁱ	199857
EuPathDBⁱ	HostDB:ENSG00000172339.9
GeneCardsⁱ	ALG14
HGNCⁱ	HGNC:28287 ALG14
HPAⁱ	HPA031829
MalaCardsⁱ	ALG14
MIMⁱ	612866 gene 616227 phenotype
neXtProtⁱ	NX_Q96F25
OpenTargetsⁱ	ENSG00000172339
Orphanetⁱ	353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBⁱ	PA142672628
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3339 Eukaryota ENOG4111QSM LUCA
GeneTreeⁱ	ENSGT00390000002579
HOGENOMⁱ	HOG000182099
HOVERGENⁱ	HBG059605
InParanoidⁱ	Q96F25
KOⁱ	K07441
OMAⁱ	ESICRVK
OrthoDBⁱ	EOG091G0K4A
PhylomeDBⁱ	Q96F25
TreeFamⁱ	TF105628

Enzyme and pathway databases

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)

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

ChiTaRSⁱ	ALG14 human
GeneWikiⁱ	ALG14
GenomeRNAiⁱ	199857
Protein Ontology More...PROⁱ	PR:Q96F25
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_ALG14
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...

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:	September 12, 2018
	This is version 127 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniRef

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Supporting data

UniProtKB - Q96F25 (ALG14_HUMAN)

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UDP-N-acetylglucosamine transferase subunit ALG14 homolog

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Nucleus

Endoplasmic reticulum

Nucleus

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ