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UniProtKB - Q9NP73 (ALG13_HUMAN)

Entry version 149 (13 Feb 2019)
Sequence version 2 (15 Jun 2010)
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Protein

Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13

Gene

ALG13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities.
Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). EC:3.4.19.12

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei239For deubiquitinase activityBy similarity1
Active sitei242Nucleophile; for deubiquitinase activityBy similarity1
Active sitei345For deubiquitinase activityBy similarity1

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Hydrolase, Multifunctional enzyme, Protease, Thiol protease, Transferase
Biological processUbl conjugation pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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

MEROPS protease database

More...MEROPSi		C85.005

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 (EC:2.4.1.141, EC:3.4.19.12)
Alternative name(s):
Asparagine-linked glycosylation 13 homolog
Glycosyltransferase 28 domain-containing protein 1
UDP-N-acetylglucosamine transferase subunit ALG13 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALG13
Synonyms:CXorf45, GLT28D1
ORF Names:MDS031
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000101901.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:30881 ALG13

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300776 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NP73

<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

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

Keywords - Cellular componenti

Endoplasmic reticulum

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 36 (EIEE36)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some EIEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:300884
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06921894K → E in EIEE36; disease features include abnormal isoelectric focusing of serum transferrin consistent with a glycosylation defect; enzyme activity at about 17% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs867599353Ensembl.1
Natural variantiVAR_069412107N → S in EIEE36; de novo mutation detected in unrelated patients. 4 PublicationsCorresponds to variant dbSNP:rs398122394Ensembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		79868

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ALG13

MalaCards human disease database

More...MalaCardsi		ALG13
MIMi300884 phenotype

Open Targets

More...OpenTargetsi		ENSG00000101901

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		324422 ALG13-CDG
777 X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162376235

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALG13

Domain mapping of disease mutations (DMDM)

More...DMDMi		298286785

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002545731 – 1137Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13Add BLAST1137

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NP73

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NP73

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NP73

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NP73

PeptideAtlas

More...PeptideAtlasi		Q9NP73

PRoteomics IDEntifications database

More...PRIDEi		Q9NP73

ProteomicsDB human proteome resource

More...ProteomicsDBi		81908
81909 [Q9NP73-2]
81910 [Q9NP73-3]
81911 [Q9NP73-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NP73

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NP73

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000101901 Expressed in 220 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NP73 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NP73 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA002853

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Isoform 2 may interact with ALG14.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122956, 21 interactors

Protein interaction database and analysis system

More...IntActi		Q9NP73, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378260

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9NP73

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NP73

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini231 – 352OTUPROSITE-ProRule annotationAdd BLAST122
Domaini492 – 552TudorPROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 125Glycosyltransferase activityAdd BLAST125
Regioni126 – 400Deubiquitinase activityAdd BLAST275

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi887 – 970Pro-richAdd BLAST84

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains 1 OTU domain with intact active sites. No deubiquitinase activity has been detected when tested (PubMed:23827681).1 Publication

<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

Belongs to the glycosyltransferase 28 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2605 Eukaryota
KOG3349 Eukaryota
COG5017 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159922

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG081391

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NP73

KEGG Orthology (KO)

More...KOi		K07432

Identification of Orthologs from Complete Genome Data

More...OMAi		VINDTLM

Database of Orthologous Groups

More...OrthoDBi		222767at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NP73

TreeFam database of animal gene trees

More...TreeFami		TF332789

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007235 Glyco_trans_28_C
IPR003323 OTU_dom
IPR038765 Papain_like_cys_pep_sf
IPR002999 Tudor

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04101 Glyco_tran_28_C, 1 hit
PF02338 OTU, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54001 SSF54001, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50802 OTU, 1 hit
PS50304 TUDOR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NP73-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKCVFVTVGT TSFDDLIACV SAPDSLQKIE SLGYNRLILQ IGRGTVVPEP 
        60         70         80         90        100
FSTESFTLDV YRYKDSLKED IQKADLVISH AGAGSCLETL EKGKPLVVVI 
       110        120        130        140        150
NEKLMNNHQL ELAKQLHKEG HLFYCTCRVL TCPGQAKSIA SAPGKCQDSA 
       160        170        180        190        200
ALTSTAFSGL DFGLLSGYLH KQALVTATHP TCTLLFPSCH AFFPLPLTPT 
       210        220        230        240        250
LYKMHKGWKN YCSQKSLNEA SMDEYLGSLG LFRKLTAKDA SCLFRAISEQ 
       260        270        280        290        300
LFCSQVHHLE IRKACVSYMR ENQQTFESYV EGSFEKYLER LGDPKESAGQ 
       310        320        330        340        350
LEIRALSLIY NRDFILYRFP GKPPTYVTDN GYEDKILLCY SSSGHYDSVY 
       360        370        380        390        400
SKQFQSSAAV CQAVLYEILY KDVFVVDEEE LKTAIKLFRS GSKKNRNNAV 
       410        420        430        440        450
TGSEDAHTDY KSSNQNRMEE WGACYNAENI PEGYNKGTEE TKSPENPSKM 
       460        470        480        490        500
PFPYKVLKAL DPEIYRNVEF DVWLDSRKEL QKSDYMEYAG RQYYLGDKCQ 
       510        520        530        540        550
VCLESEGRYY NAHIQEVGNE NNSVTVFIEE LAEKHVVPLA NLKPVTQVMS 
       560        570        580        590        600
VPAWNAMPSR KGRGYQKMPG GYVPEIVISE MDIKQQKKMF KKIRGKEVYM 
       610        620        630        640        650
TMAYGKGDPL LPPRLQHSMH YGHDPPMHYS QTAGNVMSNE HFHPQHPSPR 
       660        670        680        690        700
QGRGYGMPRN SSRFINRHNM PGPKVDFYPG PGKRCCQSYD NFSYRSRSFR 
       710        720        730        740        750
RSHRQMSCVN KESQYGFTPG NGQMPRGLEE TITFYEVEEG DETAYPTLPN 
       760        770        780        790        800
HGGPSTMVPA TSGYCVGRRG HSSGKQTLNL EEGNGQSENG RYHEEYLYRA 
       810        820        830        840        850
EPDYETSGVY STTASTANLS LQDRKSCSMS PQDTVTSYNY PQKMMGNIAA 
       860        870        880        890        900
VAASCANNVP APVLSNGAAA NQAISTTSVS SQNAIQPLFV SPPTHGRPVI 
       910        920        930        940        950
ASPSYPCHSA IPHAGASLPP PPPPPPPPPP PPPPPPPPPP PPPPPALDVG 
       960        970        980        990       1000
ETSNLQPPPP LPPPPYSCDP SGSDLPQDTK VLQYYFNLGL QCYYHSYWHS 
      1010       1020       1030       1040       1050
MVYVPQMQQQ LHVENYPVYT EPPLVDQTVP QCYSEVRRED GIQAEASAND 
      1060       1070       1080       1090       1100
TFPNADSSSV PHGAVYYPVM SDPYGQPPLP GFDSCLPVVP DYSCVPPWHP 
      1110       1120       1130 
VGTAYGGSSQ IHGAINPGPI GCIAPSPPAS HYVPQGM
Length:1,137
Mass (Da):126,056
Last modified:June 15, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4E56437BA2609589
GO
Isoform 2 (identifier: Q9NP73-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-165: RVLTCPGQAK...AFSGLDFGLL → STLPGLLQSM...FLDKVVGLQK
     166-1137: Missing.

Show »
Length:165
Mass (Da):18,225
Checksum:iCEE3C8E7EFFE4E31
GO
Isoform 3 (identifier: Q9NP73-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-78: Missing.
     79-81: SHA → MFT

Note: No experimental confirmation available.
Show »
Length:1,059
Mass (Da):117,468
Checksum:i2309259465BED07E
GO
Isoform 4 (identifier: Q9NP73-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.
     899-977: Missing.

Note: No experimental confirmation available.
Show »
Length:954
Mass (Da):106,858
Checksum:i5E581DED7B50EB86
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX43A0A087WX43_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RE84D6RE84_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNJ4A0A096LNJ4_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
132Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTT9A0A087WTT9_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LP10A0A096LP10_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVW6A0A1B0GVW6_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
296Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WT15A0A087WT15_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNL2A0A096LNL2_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LPI3A0A096LPI3_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
373Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNJ5A0A096LNJ5_HUMAN
Putative bifunctional UDP-N-acetylg...
ALG13
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI17378 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI17380 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15521 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD96874 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAH14244 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAH14244 differs from that shown. Reason: Erroneous termination at position 424. Translated as Cys.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti493Y → N in BAH14677 (Ref. 1) Curated1
Sequence conflicti564G → D in BAH13276 (Ref. 1) Curated1
Sequence conflicti588K → R in BAH14677 (Ref. 1) Curated1
Sequence conflicti624D → G in BAH13276 (Ref. 1) Curated1
Sequence conflicti658P → L in BAH13790 (Ref. 1) Curated1
Sequence conflicti746 – 748PTL → ATF in BAB15521 (Ref. 1) Curated3
Sequence conflicti752G → E in BAB15521 (Ref. 1) Curated1
Sequence conflicti866N → K in BAH14677 (Ref. 1) Curated1
Sequence conflicti926P → L in BAH14244 (Ref. 1) Curated1
Sequence conflicti954N → S in BAH14244 (Ref. 1) Curated1
Sequence conflicti1018V → A in BAH14244 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06921894K → E in EIEE36; disease features include abnormal isoelectric focusing of serum transferrin consistent with a glycosylation defect; enzyme activity at about 17% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs867599353Ensembl.1
Natural variantiVAR_069412107N → S in EIEE36; de novo mutation detected in unrelated patients. 4 PublicationsCorresponds to variant dbSNP:rs398122394Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0392981 – 104Missing in isoform 4. 3 PublicationsAdd BLAST104
Alternative sequenceiVSP_0392991 – 78Missing in isoform 3. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_03930079 – 81SHA → MFT in isoform 3. 1 Publication3
Alternative sequenceiVSP_039301128 – 165RVLTC…DFGLL → STLPGLLQSMDLSTLKCYPP GQPEKFSAFLDKVVGLQK in isoform 2. 3 PublicationsAdd BLAST38
Alternative sequenceiVSP_039302166 – 1137Missing in isoform 2. 3 PublicationsAdd BLAST972
Alternative sequenceiVSP_039303899 – 977Missing in isoform 4. 3 PublicationsAdd BLAST79

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF220051 mRNA Translation: AAF67644.1
AK026671 mRNA Translation: BAB15521.1 Different initiation.
AK300394 mRNA Translation: BAH13276.1
AK302729 mRNA Translation: BAH13790.1
AK302890 mRNA Translation: BAH13833.1
AK304712 mRNA Translation: BAH14244.1 Sequence problems.
AK316306 mRNA Translation: BAH14677.1
AK316522 mRNA Translation: BAH14893.1
AK312229 mRNA Translation: BAG35162.1
AL049563 Genomic DNA No translation available.
AL096764 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02635.1
BC005336 mRNA Translation: AAH05336.1
BC117377 mRNA Translation: AAI17378.1 Different initiation.
BC117379 mRNA Translation: AAI17380.1 Different initiation.
AK223154 mRNA Translation: BAD96874.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14559.1 [Q9NP73-2]
CCDS55477.1 [Q9NP73-1]
CCDS59173.1 [Q9NP73-4]
CCDS76012.1 [Q9NP73-3]

NCBI Reference Sequences

More...RefSeqi		NP_001034299.3, NM_001039210.4
NP_001093392.1, NM_001099922.2 [Q9NP73-1]
NP_001161857.1, NM_001168385.2
NP_001244159.1, NM_001257230.1 [Q9NP73-4]
NP_001244160.1, NM_001257231.1 [Q9NP73-3]
NP_001244163.1, NM_001257234.1 [Q9NP73-4]
NP_001244166.1, NM_001257237.1 [Q9NP73-4]
NP_001244170.1, NM_001257241.2
NP_060936.1, NM_018466.5 [Q9NP73-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.443061

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000251943; ENSP00000251943; ENSG00000101901 [Q9NP73-4]
ENST00000371979; ENSP00000361047; ENSG00000101901 [Q9NP73-2]
ENST00000394780; ENSP00000378260; ENSG00000101901 [Q9NP73-1]
ENST00000436609; ENSP00000392990; ENSG00000101901 [Q9NP73-4]
ENST00000610588; ENSP00000479731; ENSG00000101901 [Q9NP73-3]
ENST00000621367; ENSP00000481509; ENSG00000101901 [Q9NP73-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79868

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79868

UCSC genome browser

More...UCSCi		uc004epi.3 human [Q9NP73-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF220051 mRNA Translation: AAF67644.1
AK026671 mRNA Translation: BAB15521.1 Different initiation.
AK300394 mRNA Translation: BAH13276.1
AK302729 mRNA Translation: BAH13790.1
AK302890 mRNA Translation: BAH13833.1
AK304712 mRNA Translation: BAH14244.1 Sequence problems.
AK316306 mRNA Translation: BAH14677.1
AK316522 mRNA Translation: BAH14893.1
AK312229 mRNA Translation: BAG35162.1
AL049563 Genomic DNA No translation available.
AL096764 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02635.1
BC005336 mRNA Translation: AAH05336.1
BC117377 mRNA Translation: AAI17378.1 Different initiation.
BC117379 mRNA Translation: AAI17380.1 Different initiation.
AK223154 mRNA Translation: BAD96874.1 Different initiation.
CCDSiCCDS14559.1 [Q9NP73-2]
CCDS55477.1 [Q9NP73-1]
CCDS59173.1 [Q9NP73-4]
CCDS76012.1 [Q9NP73-3]
RefSeqiNP_001034299.3, NM_001039210.4
NP_001093392.1, NM_001099922.2 [Q9NP73-1]
NP_001161857.1, NM_001168385.2
NP_001244159.1, NM_001257230.1 [Q9NP73-4]
NP_001244160.1, NM_001257231.1 [Q9NP73-3]
NP_001244163.1, NM_001257234.1 [Q9NP73-4]
NP_001244166.1, NM_001257237.1 [Q9NP73-4]
NP_001244170.1, NM_001257241.2
NP_060936.1, NM_018466.5 [Q9NP73-2]
UniGeneiHs.443061

3D structure databases

ProteinModelPortaliQ9NP73
SMRiQ9NP73
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122956, 21 interactors
IntActiQ9NP73, 10 interactors
STRINGi9606.ENSP00000378260

Protein family/group databases

CAZyiGT1 Glycosyltransferase Family 1
MEROPSiC85.005

PTM databases

iPTMnetiQ9NP73
PhosphoSitePlusiQ9NP73

Polymorphism and mutation databases

BioMutaiALG13
DMDMi298286785

Proteomic databases

EPDiQ9NP73
jPOSTiQ9NP73
MaxQBiQ9NP73
PaxDbiQ9NP73
PeptideAtlasiQ9NP73
PRIDEiQ9NP73
ProteomicsDBi81908
81909 [Q9NP73-2]
81910 [Q9NP73-3]
81911 [Q9NP73-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		79868
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251943; ENSP00000251943; ENSG00000101901 [Q9NP73-4]
ENST00000371979; ENSP00000361047; ENSG00000101901 [Q9NP73-2]
ENST00000394780; ENSP00000378260; ENSG00000101901 [Q9NP73-1]
ENST00000436609; ENSP00000392990; ENSG00000101901 [Q9NP73-4]
ENST00000610588; ENSP00000479731; ENSG00000101901 [Q9NP73-3]
ENST00000621367; ENSP00000481509; ENSG00000101901 [Q9NP73-4]
GeneIDi79868
KEGGihsa:79868
UCSCiuc004epi.3 human [Q9NP73-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79868
DisGeNETi79868
EuPathDBiHostDB:ENSG00000101901.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALG13
GeneReviewsiALG13
HGNCiHGNC:30881 ALG13
HPAiHPA002853
MalaCardsiALG13
MIMi300776 gene
300884 phenotype
neXtProtiNX_Q9NP73
OpenTargetsiENSG00000101901
Orphaneti324422 ALG13-CDG
777 X-linked non-syndromic intellectual disability
PharmGKBiPA162376235

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2605 Eukaryota
KOG3349 Eukaryota
COG5017 LUCA
GeneTreeiENSGT00940000159922
HOVERGENiHBG081391
InParanoidiQ9NP73
KOiK07432
OMAiVINDTLM
OrthoDBi222767at2759
PhylomeDBiQ9NP73
TreeFamiTF332789

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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ALG13 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALG13

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79868

Protein Ontology

More...PROi		PR:Q9NP73

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000101901 Expressed in 220 organ(s), highest expression level in female gonad
ExpressionAtlasiQ9NP73 baseline and differential
GenevisibleiQ9NP73 HS

Family and domain databases

InterProiView protein in InterPro
IPR007235 Glyco_trans_28_C
IPR003323 OTU_dom
IPR038765 Papain_like_cys_pep_sf
IPR002999 Tudor
PfamiView protein in Pfam
PF04101 Glyco_tran_28_C, 1 hit
PF02338 OTU, 1 hit
SUPFAMiSSF54001 SSF54001, 1 hit
PROSITEiView protein in PROSITE
PS50802 OTU, 1 hit
PS50304 TUDOR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALG13_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP73
Secondary accession number(s): B1AKD6
, B1AKM1, B2R5L5, B7Z6J0, B7Z804, B7Z847, B7Z9A8, B7ZAJ1, B7ZB57, Q17RC3, Q5JXY9, Q9H5U8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: June 15, 2010
Last modified: February 13, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Complete proteome, Reference proteome

Documents

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