Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

UDP-N-acetylglucosamine transferase subunit ALG14 homolog

Gene

ALG14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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 - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
REACT_268645. 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
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:28287. ALG14.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 33LumenalSequence Analysis
Transmembranei4 – 2421HelicalSequence AnalysisAdd
BLAST
Topological domaini25 – 216192CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, without tubular aggregates (CMSWTA)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 genetic disorders characterized by failure of neuromuscular transmission, weakness and easy fatigability.

See also OMIM:616227
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651P → L in CMSWTA; results in a severe reduction in protein expression; loss of function mutation. 1 Publication
VAR_073331

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi616227. phenotype.
Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
PharmGKBiPA142672628.

Polymorphism and mutation databases

BioMutaiALG14.
DMDMi74731649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 216216UDP-N-acetylglucosamine transferase subunit ALG14 homologPRO_0000265116Add
BLAST

Proteomic databases

MaxQBiQ96F25.
PaxDbiQ96F25.
PRIDEiQ96F25.

PTM databases

PhosphoSiteiQ96F25.

Expressioni

Gene expression databases

BgeeiQ96F25.
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. 2 interactions.
STRINGi9606.ENSP00000359224.

Structurei

3D structure databases

ProteinModelPortaliQ96F25.
SMRiQ96F25. Positions 37-71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ALG14 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0707.
GeneTreeiENSGT00390000002579.
HOGENOMiHOG000182099.
HOVERGENiHBG059605.
InParanoidiQ96F25.
KOiK07441.
OMAiLYYLGMV.
OrthoDBiEOG7SN8DK.
PhylomeDBiQ96F25.
TreeFamiTF105628.

Family and domain databases

InterProiIPR013969. Oligosacch_biosynth_Alg14.
[Graphical view]
PANTHERiPTHR12154. PTHR12154. 1 hit.
PfamiPF08660. Alg14. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141V → M.
Corresponds to variant rs11165298 [ dbSNP | Ensembl ].
VAR_029635
Natural varianti65 – 651P → L in CMSWTA; results in a severe reduction in protein expression; loss of function mutation. 1 Publication
VAR_073331

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_659425.1. NM_144988.3.
UniGeneiHs.408927.

Genome annotation databases

EnsembliENST00000370205; ENSP00000359224; ENSG00000172339.
GeneIDi199857.
KEGGihsa:199857.
UCSCiuc001dra.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

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_659425.1. NM_144988.3.
UniGeneiHs.408927.

3D structure databases

ProteinModelPortaliQ96F25.
SMRiQ96F25. Positions 37-71.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128278. 2 interactions.
STRINGi9606.ENSP00000359224.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSiteiQ96F25.

Polymorphism and mutation databases

BioMutaiALG14.
DMDMi74731649.

Proteomic databases

MaxQBiQ96F25.
PaxDbiQ96F25.
PRIDEiQ96F25.

Protocols and materials databases

DNASUi199857.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370205; ENSP00000359224; ENSG00000172339.
GeneIDi199857.
KEGGihsa:199857.
UCSCiuc001dra.2. human.

Organism-specific databases

CTDi199857.
GeneCardsiGC01M095449.
HGNCiHGNC:28287. ALG14.
HPAiHPA031829.
MIMi612866. gene.
616227. phenotype.
neXtProtiNX_Q96F25.
Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
PharmGKBiPA142672628.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0707.
GeneTreeiENSGT00390000002579.
HOGENOMiHOG000182099.
HOVERGENiHBG059605.
InParanoidiQ96F25.
KOiK07441.
OMAiLYYLGMV.
OrthoDBiEOG7SN8DK.
PhylomeDBiQ96F25.
TreeFamiTF105628.

Enzyme and pathway databases

ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
REACT_268645. Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS).

Miscellaneous databases

ChiTaRSiALG14. human.
GeneWikiiALG14.
GenomeRNAii199857.
NextBioi89753.
PROiQ96F25.
SOURCEiSearch...

Gene expression databases

BgeeiQ96F25.
CleanExiHS_ALG14.
GenevisibleiQ96F25. HS.

Family and domain databases

InterProiIPR013969. Oligosacch_biosynth_Alg14.
[Graphical view]
PANTHERiPTHR12154. PTHR12154. 1 hit.
PfamiPF08660. Alg14. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  4. "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."
    Gao X.-D., Tachikawa H., Sato T., Jigami Y., Dean N.
    J. Biol. Chem. 280:36254-36262(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  5. "Congenital myasthenic syndromes due to mutations in ALG2 and ALG14."
    WGS500 Consortium
    Cossins J., Belaya K., Hicks D., Salih M.A., Finlayson S., Carboni N., Liu W.W., Maxwell S., Zoltowska K., Farsani G.T., Laval S., Seidhamed M.Z., Donnelly P., Bentley D., McGowan S.J., Muller J., Palace J., Lochmuller H.
    , Beeson D., Donnelly P., Bell J., Bentley D., McVean G., Ratcfliffe P., Taylor J., Wilkie A., Donnelly P., Broxholme J., Buck D., Cazier J.B., Cornall R., Gregory L., Knight J., Lunter G., McVean G., Taylor J., Tomlinson I., Wilkie A., Buck D., Allan C., Attar M., Green A., Gregory L., Humphray S., Kingsbury Z., Lamble S., Lonie L., Pagnamenta A., Piazza P., Polanco G., Trebes A., McVean G., Donnelly P., Cazier J.B., Broxholme J., Copley R., Fiddy S., Grocock R., Hatton E., Holmes C., Hughes L., Humburg P., Kanapin A., Lise S., Lunter G., Martin H., Murray L., McCarthy D., Rimmer A., Sahgal N., Wright B., Yau C.
    Brain 136:944-956(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMSWTA, VARIANT CMSWTA LEU-65, CHARACTERIZATION OF VARIANT CMSWTA LEU-65.

Entry informationi

Entry nameiALG14_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 102 of the entry and version 1 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.