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ALG13 Gene

protein-coding   GIFtS: 54
GCID: GC0XP110909

ALG13, UDP-N-Acetylglucosaminyltransferase Subunit

(Previous names: glycosyltransferase 28 domain containing 1, chromosome X...)
(Previous symbols: GLT28D1, CXorf45)
  See ALG13-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ALG13, UDP-N-Acetylglucosaminyltransferase Subunit1 2     Chromosome X Open Reading Frame 451
GLT28D11 2 3 5     Glycosyltransferase 28 Domain Containing 11
CXorf451 2 3     MDS0312
N-Acetylglucosaminyldiphosphodolichol N-Acetylglucosaminyltransferase1 2     TDRD132
Tudor Domain Containing 131 2     YGL047W2
Asparagine-Linked Glycosylation 13 Homolog2 3     Hematopoietic Stem/Progenitor Cells Protein MDS0312
Glycosyltransferase 28 Domain-Containing Protein 12 3     Putative Bifunctional UDP-N-Acetylglucosamine Transferase And
Deubiquitinase ALG132
UDP-N-Acetylglucosamine Transferase Subunit ALG13 Homolog2 3     EC 2.4.1.1413
CDG1S2 5     EC 3.4.19.123
Asparagine-Linked Glycosylation 13 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 308811   Entrez Gene: 798682   Ensembl: ENSG000001019017   OMIM: 3007765   UniProtKB: Q9NP733   

Export aliases for ALG13 gene to outside databases

Previous GC identifers: GC0XP110811 GC0XP100545


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALG13 Gene:
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It
heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc
glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in
endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Dec 2009)

GeneCards Summary for ALG13 Gene:
ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit) is a protein-coding gene. Diseases associated with ALG13 include congenital disorder of glycosylation type i, and mental retardation, autosomal dominant 8. GO annotations related to this gene include carbohydrate binding and N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. An important paralog of this gene is OTUD4.

UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
Function: Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities
Function: Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked
oligosaccharide pathway

Gene Wiki entry for ALG13 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG13 gene promoter:
         Pbx1a   GCNF   NF-E2 p45   TFIID   GCNF-1   COMP1   Cart-1   NF-E2   GCNF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG13 promoter sequence
   Search Chromatin IP Primers for ALG13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq23

ALG13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG13 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP110909:  view genomic region     (about GC identifiers)

Start:
110,909,043 bp from pter      End:
111,003,877 bp from pter
Size:
94,835 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73 (See protein sequence)
Recommended Name: Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13  
Size: 1137 amino acids; 126056 Da
Subunit: Isoform 2 may interact with ALG14 (By similarity)
Sequence caution: Sequence=AAI17378.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI17380.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15521.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD96874.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAH14244.1; Type=Erroneous termination; Positions=424;
Note=Translated as Cys; Sequence=CAI43016.2; Type=Erroneous gene model prediction; Sequence=CAM28219.1;
Type=Erroneous gene model prediction;
Secondary accessions: B1AKD6 B1AKM1 B2R5L5 B7Z6J0 B7Z804 B7Z847 B7Z9A8 B7ZAJ1 B7ZB57 Q17RC3
Q5JXY9 Q9H5U8
Alternative splicing: 4 isoforms:  Q9NP73-1   Q9NP73-2   Q9NP73-3   Q9NP73-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALG13: NX_Q9NP73

Explore proteomics data for ALG13 at MOPED


See ALG13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (12 alternative transcripts): 
NP_001034299.3  NP_001093392.1  NP_001161857.1  NP_001244159.1  NP_001244160.1  NP_001244163.1  NP_001244164.1  NP_001244166.1  
NP_001244168.1  NP_001244169.1  NP_001244170.1  NP_060936.1  

ENSEMBL proteins: 
 ENSP00000361047   ENSP00000426892   ENSP00000378260   ENSP00000427093   ENSP00000392990  
 ENSP00000251943  
Reactome Protein details: Q9NP73

ALG13 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for ALG13

 
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Abcam antibodies for ALG13
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LSBio Antibodies in human, mouse, rat for ALG13

ALG13 Assay Products:

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Cloud-Clone Corp. ELISAs for ALG13
Cloud-Clone Corp. CLIAs for ALG13
Search eBioscience for ELISAs for ALG13 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
OTUD: OTU domain containing
TDRD: Tudor domain containing

3 InterPro protein domains:
 IPR003323 OTU
 IPR007235 Glyco_trans_28_C
 IPR002999 Tudor

Graphical View of Domain Structure for InterPro Entry Q9NP73

ProtoNet protein and cluster: Q9NP73

UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
Domain: Contains 1 OTU domain with intact active sites. No deubiquitinase activity has been detected when tested
(PubMed:23827681)
Similarity: Belongs to the glycosyltransferase 28 family
Similarity: Contains 1 OTU domain
Similarity: Contains 1 Tudor domain


Find genes that share domains with ALG13           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ALG13_HUMAN, Q9NP73
Function: Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities
Function: Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked
oligosaccharide pathway
Catalytic activity: UDP-N-acetyl-D-glucosamine + N-acetyl-D-glucosaminyl-diphosphodolichol = UDP +
N,N'-diacetylchitobiosyl-diphosphodolichol
Catalytic activity: 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)

     Enzyme Numbers (IUBMB): EC 2.4.1.1411 EC 3.4.19.121

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004577N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity IEA--
GO:0008234cysteine-type peptidase activity IEA--
GO:0016758transferase activity, transferring hexosyl groups ----
GO:0030246carbohydrate binding IEA--
GO:0044822poly(A) RNA binding IDA--
     
Find genes that share ontologies with ALG13           About GenesLikeMe


Phenotypes:
     3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Alg13):
 cardiovascular system  embryogenesis  mortality/aging 

Find genes that share phenotypes with ALG13           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG13
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG13

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG13
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG13

miRNA
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miRTarBase miRNAs that target ALG13:
hsa-let-7e-5p (MIRT051473)

Block miRNA regulation of human, mouse, rat ALG13 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ALG13 (see all 36):
hsa-miR-548k hsa-miR-218-1* hsa-let-7a-2* hsa-miR-301a hsa-miR-449a hsa-miR-374a* hsa-miR-376a* hsa-miR-130b
SwitchGear 3'UTR luciferase reporter plasmidALG13 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ALG13
Predesigned siRNA for gene silencing in human, mouse, rat ALG13

Gene Editing
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DNA2.0 Custom Protein Engineering Service for ALG13

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GenScript: all cDNA clones in your preferred vector (see all 4): ALG13 (NM_001168385)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG13

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for ALG13 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG13


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ALG13_HUMAN, Q9NP73: Isoform 2: Endoplasmic reticulum (Probable). Note=Could be recruited to the cytosolic face
of the endoplasmic reticulum membrane through its interaction with ALG14
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum4
cytosol2
extracellular1
golgi apparatus1
mitochondrion1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane TAS--

Find genes that share ontologies with ALG13           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ALG13 About    
See pathways by source

SuperPathContained pathways About
1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Asparagine N-linked glycosylation0.49
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
N-Glycan biosynthesis0.49
Metabolism of proteins0.30
Post-translational protein modification0.43
dolichyl-diphosphooligosaccharide biosynthesis0.00
2Metabolism
Metabolic pathways0.38


Find genes that share SuperPaths with ALG13           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for ALG13
    dolichyl-diphosphooligosaccharide biosynthesis

1 Reactome Pathway for ALG13
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


2 Kegg Pathways  (Kegg details for ALG13):
    N-Glycan biosynthesis
Metabolic pathways

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG13
Interactions:

    Search GeneGlobe Interaction Network for ALG13

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for ALG13 (Q9NP732, 3 ENSP000003610474) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
REREQ9P2R62, 3, ENSP000003386294MINT-2876453 I2D: score=2 STRING: ENSP00000338629
ATN1P542592, 3, ENSP000003490764MINT-2876415 I2D: score=2 STRING: ENSP00000349076
MSNP260383I2D: score=4 
CUX1P398803I2D: score=1 
PUF60Q9UHX13I2D: score=1 
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005975carbohydrate metabolic process ----
GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
GO:0006508proteolysis ----
GO:0018279protein N-linked glycosylation via asparagine TAS--
GO:0030259lipid glycosylation IEA--

Find genes that share ontologies with ALG13           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ALG13

4 HMDB Compounds for ALG13    About this table
CompoundSynonyms CAS #PubMed Ids
N,N'-DiacetylchitobiosyldiphosphodolicholChitobiosyldiphosphodolichol (see all 2)----
N-Acetyl-D-glucosaminyldiphosphodolicholN-Acetyl-D-glucosaminyl-diphosphodolichol ----
Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
Uridine diphosphate-N-acetylglucosamineN-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)528-04-1--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ALG13 gene (12 alternative transcripts): 
NM_001039210.3  NM_001099922.2  NM_001168385.1  NM_001257230.1  NM_001257231.1  NM_001257234.1  NM_001257235.1  NM_001257237.1  
NM_001257239.1  NM_001257240.1  NM_001257241.1  NM_018466.4  

Unigene Cluster for ALG13:

ALG13, UDP-N-acetylglucosaminyltransferase subunit
Hs.443061  [show with all ESTs]
Unigene Representative Sequence: NM_001257231
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
ENST00000487141 ENST00000371979(uc022ccl.1 uc022ccm.1 uc022ccn.1 uc004epi.2 uc022cco.1 uc022ccp.1 uc022ccq.1)
ENST00000473389 ENST00000482374 ENST00000486353 ENST00000492038 ENST00000394780(uc011msy.2 uc011msz.2)
ENST00000489033 ENST00000495283 ENST00000468657 ENST00000471924 ENST00000482742
ENST00000470704 ENST00000436609 ENST00000490774 ENST00000470971 ENST00000460092
ENST00000486578
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate ALG13 (see all 36):
hsa-miR-548k hsa-miR-218-1* hsa-let-7a-2* hsa-miR-301a hsa-miR-449a hsa-miR-374a* hsa-miR-376a* hsa-miR-130b
SwitchGear 3'UTR luciferase reporter plasmidALG13 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat ALG13
Clone
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): ALG13 (NM_001168385)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG13
Primer
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OriGene qPCR primer pairs and template standards for ALG13
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ALG13
  QuantiTect SYBR Green Assays in human, mouse, rat ALG13
  QuantiFast Probe-based Assays in human, mouse, rat ALG13

Additional mRNA sequence: 

AF220051.1 AK026671.1 AK056347.1 AK223154.1 AK300394.1 AK302729.1 AK302890.1 AK304712.1 
AK311608.1 AK312229.1 AK316306.1 AK316522.1 BC005336.1 BC117377.1 BC117379.1 NR_033125.1 

Selected DOTS entries (see all 27):

DT.113134  DT.448810  DT.91757707  DT.91743885  DT.75101403  DT.91935306  DT.100022949  DT.86847583 
DT.87006558  DT.97841620  DT.100788710  DT.91743884  DT.121306345  DT.121306350  DT.121306352  DT.91753670 
DT.91757709  DT.92023993  DT.95271494  DT.121306371  DT.40308966  DT.91653774  DT.91803643  DT.95365627 

Selected AceView cDNA sequences (see all 209):

BC005336 AK056347 AI984956 AA345374 BU783837 AI142824 Z39365 BP359179 
BM839020 CB268871 AW290958 AA676867 BQ004489 AA281347 BX118776 BE856439 
AA907248 NM_018466 BF055996 AI439095 CR604429 AL706526 AI700032 CA314765 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ALG13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ALG13 Expression
About this image

ALG13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ALG13 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.443061
    Custom PCR Arrays for ALG13
Primer
Products:
OriGene qPCR primer pairs and template standards for ALG13
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ALG13
QuantiTect SYBR Green Assays in human, mouse, rat ALG13
QuantiFast Probe-based Assays in human, mouse, rat ALG13
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG13

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ALG13 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Alg135 asparagine-linked glycosylation 13 homolog (S. cerevisiae)   --   X (65.42 cM) 144317812 
chicken
(Gallus gallus)
Aves ALG131 ALG13, UDP-N-acetylglucosaminyltransferase subunit 68.96(n)
63.1(a)
  422339  XM_420312.4  XP_420312.4 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
71(a)
54(a)
1 ↔ many
1 ↔ many
GL343376.1(479057-496466)
GL343376.1(498268-509538)
tropical clawed frog
(Xenopus tropicalis)
Amphibia otud41 OTU domain-containing protein 4 66.23(n)
61.19(a)
  100145625  XM_002938789.2  XP_002938835.2 
zebrafish
(Danio rerio)
Actinopterygii alg131 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 56.12(n)
49.3(a)
  557181  NM_001031838.1  NP_001027008.1 
fruit fly
(Drosophila melanogaster)
Insecta CG32516
otu6
ovarian tumor
25(a)
21(a)
many ↔ many
many ↔ many
2L(4688965-4690702)
X(8379041-8383568)


ENSEMBL Gene Tree for ALG13 (if available)
TreeFam Gene Tree for ALG13 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ALG13 gene
OTUD42  
1 SIMAP similar gene for ALG13 using alignment to 3 protein entries:     ALG13_HUMAN (see all proteins):
OTUD4

Find genes that share paralogs with ALG13           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ALG13 (see all 999)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0692184
Congenital disorder of glycosylation 1S (CDG1S)4--see VAR_0692182 K E mis40--------
rs1869416821,2
--110902417(+) GAGGCA/GGGAGT 6 -- us2k10--------
rs1510795211,2
--110902445(+) AGGGTA/GGGGCT 12 -- us2k10--------
rs732663131,2
--110902515(+) TTTCTC/GTAACT 12 -- us2k10--------
rs1901899151,2
--110902530(+) ACAGGA/GAAAAG 12 -- us2k10--------
rs1813977801,2
--110902734(+) GGGTCA/CGGCAA 12 -- us2k10--------
rs1864132121,2
--110902931(+) GAATGA/GCGTGA 13 -- us2k10--------
rs1899168361,2
--110902964(+) TGAGCC/TGAGAT 13 -- us2k10--------
rs24958091,2
C,F--110903378(+) AGACGT/CGGCCT 13 -- us2k14Minor allele frequency- C:0.29NA WA CSA 7
rs1820965031,2
--110903574(+) GCTAGA/GAACAC 13 -- us2k10--------

HapMap Linkage Disequilibrium report for ALG13 (110909043 - 111003877 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for ALG13:    About this table    
Variant IDTypeSubtypePubMed ID
esv2740380CNV Deletion23290073

Human Gene Mutation Database (HGMD): ALG13
Locus Specific Mutation Databases (LSDB): ALG13

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ALG13
DNA2.0 Custom Variant and Variant Library Synthesis for ALG13

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300776   
OMIM disorders: 300884  
UniProtKB/Swiss-Prot: ALG13_HUMAN, Q9NP73
  • Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 3 diseases for ALG13:    
    About MalaCards
    congenital disorder of glycosylation type i    mental retardation, autosomal dominant 8    mental retardation, x-linked 17/31, microduplication

    1 disease from the University of Copenhagen DISEASES database for ALG13:
    Congenital myasthenic syndrome

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    Export disorders for ALG13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALG13 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ALG13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    2. 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. (PubMed id 16100110)1, 2 Gao X.-D.... Dean N. (J. Biol. Chem. 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. (PubMed id 23827681)2 Mevissen T.E.... Komander D. (Cell 2013)
    7. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    9. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)
    10. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. (PubMed id 22492991)2 Timal S.... Lefeber D.J. (Hum. Mol. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79868 HGNC: 30881 AceView: GLT28D1andCXorf45 Ensembl:ENSG00000101901 euGenes: HUgn79868
    ECgene: ALG13 Kegg: 79868 H-InvDB: ALG13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALG13 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GLT28D1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG13 gene:
    Search GeneIP for patents involving ALG13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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