Human Gene ALG3 (ENST00000397676.8_7) from GENCODE V47lift37
  Description: ALG3 alpha-1,3- mannosyltransferase, transcript variant 2 (from RefSeq NR_024534.1)
Gencode Transcript: ENST00000397676.8_7
Gencode Gene: ENSG00000214160.10_14
Transcript (Including UTRs)
   Position: hg19 chr3:183,960,089-183,966,750 Size: 6,662 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr3:183,960,302-183,966,728 Size: 6,427 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:183,960,089-183,966,750)mRNA (may differ from genome)Protein (438 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALG3_HUMAN
DESCRIPTION: RecName: Full=Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; EC=2.4.1.258; AltName: Full=Asparagine-linked glycosylation protein 3 homolog; AltName: Full=Dol-P-Man-dependent alpha(1-3)-mannosyltransferase; AltName: Full=Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; AltName: Full=Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase; AltName: Full=Not56-like protein;
FUNCTION: Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.
CATALYTIC ACTIVITY: Dolichyl beta-D-mannosyl phosphate + D-Man- alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha- (1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc- diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta- (1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable).
DISEASE: Defects in ALG3 are the cause of congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]; also known as carbohydrate-deficient glycoprotein syndrome type IV (CDGS4). CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins.
SIMILARITY: Belongs to the glycosyltransferase 58 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG3";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALG3
Diseases sorted by gene-association score: congenital disorder of glycosylation, type id* (1579), congenital disorder of glycosylation, type in (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.78 RPKM in Testis
Total median expression: 587.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.8022-0.218 Picture PostScript Text
3' UTR -71.50213-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007873 - Glycosyltransferase_ALG3

Pfam Domains:
PF05208 - ALG3 protein

SCOP Domains:
52317 - Class I glutamine amidotransferase-like

ModBase Predicted Comparative 3D Structure on Q92685
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000033 alpha-1,3-mannosyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups
GO:0052925 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0097502 mannosylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK299575 - Homo sapiens cDNA FLJ50188 complete cds, highly similar to Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichylmannosyltransferase (EC 2.4.1.-).
KP189295 - Homo sapiens not variant 1a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189313 - Homo sapiens cell-line T98G not variant 1a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189322 - Homo sapiens cell-line T98G not variant 4a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189323 - Homo sapiens cell-line T98G not variant 4b (ALG3) mRNA, complete sequence, alternatively spliced.
BC004313 - Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3627962), partial cds.
LF210550 - JP 2014500723-A/18053: Polycomb-Associated Non-Coding RNAs.
LF338747 - JP 2014500723-A/146250: Polycomb-Associated Non-Coding RNAs.
BC021062 - Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:2988939).
BC002839 - Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone MGC:3573 IMAGE:3636604), complete cds.
Y09022 - H.sapiens mRNA for Not56-like protein.
AK289361 - Homo sapiens cDNA FLJ76198 complete cds, highly similar to Homo sapiens asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase) (ALG3), transcript variant 4, mRNA.
JD204010 - Sequence 185034 from Patent EP1572962.
JD131799 - Sequence 112823 from Patent EP1572962.
KP189298 - Homo sapiens not variant 3b (ALG3) mRNA, partial sequence, alternatively spliced.
KP189294 - Homo sapiens not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189296 - Homo sapiens not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189297 - Homo sapiens not variant 2a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189300 - Homo sapiens not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189301 - Homo sapiens not variant 2b (ALG3) mRNA, complete sequence, alternatively spliced.
KP189303 - Homo sapiens cell-line MDA-MB-468 not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189306 - Homo sapiens cell-line MDA-MB-468 not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189307 - Homo sapiens cell-type primary keratinocyte not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189308 - Homo sapiens cell-type primary keratinocyte not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189311 - Homo sapiens cell-type primary keratinocyte not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189312 - Homo sapiens cell-line T98G not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189314 - Homo sapiens cell-line T98G not variant 1b (ALG3) mRNA, complete sequence, alternatively spliced.
KP189315 - Homo sapiens cell-line T98G not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189316 - Homo sapiens cell-line T98G not variant 2a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189317 - Homo sapiens cell-line T98G not variant 2b (ALG3) mRNA, complete sequence, alternatively spliced.
KP189324 - Homo sapiens cell-line T98G not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189325 - Homo sapiens cell-line T98G not variant 5a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189326 - Homo sapiens cell-line T98G not variant 5b (ALG3) mRNA, complete sequence, alternatively spliced.
KP189327 - Homo sapiens cell-line T98G not variant 5c (ALG3) mRNA, complete sequence, alternatively spliced.
KP189289 - Homo sapiens cell-line HT-29 not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189302 - Homo sapiens cell-line MDA-MB-468 not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189284 - Homo sapiens cell-line HeLa not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189285 - Homo sapiens cell-line HeLa not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189288 - Homo sapiens cell-line HeLa not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189290 - Homo sapiens cell-line HT-29 not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189293 - Homo sapiens cell-line HT-29 not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189279 - Homo sapiens cell-line HaCaT not variant 1 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189280 - Homo sapiens cell-line HaCaT not variant 2 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189283 - Homo sapiens cell-line HaCaT not variant 5 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189299 - Homo sapiens not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189281 - Homo sapiens cell-line HaCaT not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189286 - Homo sapiens cell-line HeLa not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189287 - Homo sapiens cell-line HeLa not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189291 - Homo sapiens cell-line HT-29 not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189292 - Homo sapiens cell-line HT-29 not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189304 - Homo sapiens cell-line MDA-MB-468 not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189305 - Homo sapiens cell-line MDA-MB-468 not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189309 - Homo sapiens cell-type primary keratinocyte not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189310 - Homo sapiens cell-type primary keratinocyte not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189318 - Homo sapiens cell-line T98G not variant 3 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189319 - Homo sapiens cell-line T98G not variant 3a (ALG3) mRNA, complete sequence, alternatively spliced.
KP189320 - Homo sapiens cell-line T98G not variant 3c (ALG3) mRNA, complete sequence, alternatively spliced.
KP189321 - Homo sapiens cell-line T98G not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
KP189282 - Homo sapiens cell-line HaCaT not variant 4 (ALG3) mRNA, complete sequence, alternatively spliced.
JD120675 - Sequence 101699 from Patent EP1572962.
KJ892953 - Synthetic construct Homo sapiens clone ccsbBroadEn_02347 ALG3 gene, encodes complete protein.
KR709949 - Synthetic construct Homo sapiens clone CCSBHm_00007992 ALG3 (ALG3) mRNA, encodes complete protein.
KR709950 - Synthetic construct Homo sapiens clone CCSBHm_00007993 ALG3 (ALG3) mRNA, encodes complete protein.
KR709951 - Synthetic construct Homo sapiens clone CCSBHm_00007994 ALG3 (ALG3) mRNA, encodes complete protein.
DQ893160 - Synthetic construct clone IMAGE:100005790; FLH194488.01X; RZPDo839B1180D asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) (ALG3) gene, encodes complete protein.
DQ896456 - Synthetic construct Homo sapiens clone IMAGE:100010916; FLH194484.01L; RZPDo839B1170D asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) (ALG3) gene, encodes complete protein.
LF338750 - JP 2014500723-A/146253: Polycomb-Associated Non-Coding RNAs.
LF338751 - JP 2014500723-A/146254: Polycomb-Associated Non-Coding RNAs.
LF338753 - JP 2014500723-A/146256: Polycomb-Associated Non-Coding RNAs.
CU678238 - Synthetic construct Homo sapiens gateway clone IMAGE:100019399 5' read ALG3 mRNA.
AK297701 - Homo sapiens cDNA FLJ59134 complete cds, highly similar to Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichylmannosyltransferase (EC 2.4.1.-).
LF338756 - JP 2014500723-A/146259: Polycomb-Associated Non-Coding RNAs.
MA446127 - JP 2018138019-A/18053: Polycomb-Associated Non-Coding RNAs.
MA574324 - JP 2018138019-A/146250: Polycomb-Associated Non-Coding RNAs.
MA574327 - JP 2018138019-A/146253: Polycomb-Associated Non-Coding RNAs.
MA574328 - JP 2018138019-A/146254: Polycomb-Associated Non-Coding RNAs.
MA574330 - JP 2018138019-A/146256: Polycomb-Associated Non-Coding RNAs.
MA574333 - JP 2018138019-A/146259: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS - protein N-glycosylation initial phase (eukaryotic)

Reactome (by CSHL, EBI, and GO)

Protein Q92685 (Reactome details) participates in the following event(s):

R-HSA-446188 ALG3 transfers Man to N-glycan precursor (GlcNAc)2 (Man)5 (PP-Dol)1
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8JZZ6, ALG3_HUMAN, ENST00000397676.1, ENST00000397676.2, ENST00000397676.3, ENST00000397676.4, ENST00000397676.5, ENST00000397676.6, ENST00000397676.7, NOT, NOT56L, NR_024534, Q92685, Q9BT71, uc318zfa.1, uc318zfa.2
UCSC ID: ENST00000397676.8_7
RefSeq Accession: NM_005787.6
Protein: Q92685 (aka ALG3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG3:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.