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Protein

UDP-N-acetylglucosamine transferase subunit ALG14 homolog

Gene

ALG14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-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

CAZyiGT1 Glycosyltransferase Family 1

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-N-acetylglucosamine transferase subunit ALG14 homolog
Gene namesi
Name:ALG14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000172339.9
HGNCiHGNC:28287 ALG14
MIMi612866 gene
neXtProtiNX_Q96F25

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 3LumenalBy similarity3
Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Topological domaini25 – 216CytoplasmicBy similarityAdd BLAST192

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.
See also OMIM:616227
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07333165P → 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

DisGeNETi199857
MalaCardsiALG14
MIMi616227 phenotype
OpenTargetsiENSG00000172339
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBiPA142672628

Polymorphism and mutation databases

BioMutaiALG14
DMDMi74731649

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002651161 – 216UDP-N-acetylglucosamine transferase subunit ALG14 homologAdd BLAST216

Proteomic databases

EPDiQ96F25
MaxQBiQ96F25
PaxDbiQ96F25
PeptideAtlasiQ96F25
PRIDEiQ96F25
ProteomicsDBi76488

PTM databases

iPTMnetiQ96F25
PhosphoSitePlusiQ96F25

Expressioni

Gene expression databases

BgeeiENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum
CleanExiHS_ALG14
GenevisibleiQ96F25 HS

Organism-specific databases

HPAiHPA031829

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi128278, 7 interactors
STRINGi9606.ENSP00000359224

Structurei

3D structure databases

ProteinModelPortaliQ96F25
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ALG14 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3339 Eukaryota
ENOG4111QSM LUCA
GeneTreeiENSGT00390000002579
HOGENOMiHOG000182099
HOVERGENiHBG059605
InParanoidiQ96F25
KOiK07441
OMAiESICRVK
OrthoDBiEOG091G0K4A
PhylomeDBiQ96F25
TreeFamiTF105628

Family and domain databases

InterProiView protein in InterPro
IPR013969 Oligosacch_biosynth_Alg14
PANTHERiPTHR12154 PTHR12154, 1 hit
PfamiView protein in Pfam
PF08660 Alg14, 1 hit

Sequencei

Sequence statusi: Complete.

Q96F25-1 [UniParc]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02963514V → M. Corresponds to variant dbSNP:rs11165298EnsemblClinVar.1
Natural variantiVAR_07333165P → 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
CCDSiCCDS752.1
RefSeqiNP_001292171.1, NM_001305242.1
NP_659425.1, NM_144988.3
UniGeneiHs.408927

Genome annotation databases

EnsembliENST00000370205; ENSP00000359224; ENSG00000172339
GeneIDi199857
KEGGihsa:199857
UCSCiuc001dra.3 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS752.1
RefSeqiNP_001292171.1, NM_001305242.1
NP_659425.1, NM_144988.3
UniGeneiHs.408927

3D structure databases

ProteinModelPortaliQ96F25
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128278, 7 interactors
STRINGi9606.ENSP00000359224

Protein family/group databases

CAZyiGT1 Glycosyltransferase Family 1

PTM databases

iPTMnetiQ96F25
PhosphoSitePlusiQ96F25

Polymorphism and mutation databases

BioMutaiALG14
DMDMi74731649

Proteomic databases

EPDiQ96F25
MaxQBiQ96F25
PaxDbiQ96F25
PeptideAtlasiQ96F25
PRIDEiQ96F25
ProteomicsDBi76488

Protocols and materials databases

DNASUi199857
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370205; ENSP00000359224; ENSG00000172339
GeneIDi199857
KEGGihsa:199857
UCSCiuc001dra.3 human

Organism-specific databases

CTDi199857
DisGeNETi199857
EuPathDBiHostDB:ENSG00000172339.9
GeneCardsiALG14
HGNCiHGNC:28287 ALG14
HPAiHPA031829
MalaCardsiALG14
MIMi612866 gene
616227 phenotype
neXtProtiNX_Q96F25
OpenTargetsiENSG00000172339
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBiPA142672628
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3339 Eukaryota
ENOG4111QSM LUCA
GeneTreeiENSGT00390000002579
HOGENOMiHOG000182099
HOVERGENiHBG059605
InParanoidiQ96F25
KOiK07441
OMAiESICRVK
OrthoDBiEOG091G0K4A
PhylomeDBiQ96F25
TreeFamiTF105628

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiALG14 human
GeneWikiiALG14
GenomeRNAii199857
PROiPR:Q96F25
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum
CleanExiHS_ALG14
GenevisibleiQ96F25 HS

Family and domain databases

InterProiView protein in InterPro
IPR013969 Oligosacch_biosynth_Alg14
PANTHERiPTHR12154 PTHR12154, 1 hit
PfamiView protein in Pfam
PF08660 Alg14, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiALG14_HUMAN
AccessioniPrimary (citable) accession number: Q96F25
Secondary accession number(s): A8K030
Entry historyiIntegrated 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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