ALG3 ALG3 alpha-1,3- mannosyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALG3provided by HGNC
Official Full Name: ALG3 alpha-1,3- mannosyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:23056
See related: Ensembl:ENSG00000214160 MIM:608750; AllianceGenome:HGNC:23056
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e
Summary: This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Expression: Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184242301..184249525, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (187051585..187058813, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183960089..183967313, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer.
Title: Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer.
CircPTK2 promotes cell viability, cell cycle process, and glycolysis and inhibits cell apoptosis in acute myeloid leukemia by regulating miR-582-3p/ALG3 axis.
Title: CircPTK2 promotes cell viability, cell cycle process, and glycolysis and inhibits cell apoptosis in acute myeloid leukemia by regulating miR-582-3p/ALG3 axis.
ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of alpha1,3-mannosylated uPAR and ADAM8.
Title: ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of α1,3-mannosylated uPAR and ADAM8.
Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis to potentiate immunotherapy.
Title: Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis to potentiate immunotherapy.
ALG3 Is a Potential Biomarker for the Prognosis of Bladder Cancer.
Title: ALG3 Is a Potential Biomarker for the Prognosis of Bladder Cancer.
ALG3 contributes to stemness and radioresistance through regulating glycosylation of TGF-beta receptor II in breast cancer.
Title: ALG3 contributes to stemness and radioresistance through regulating glycosylation of TGF-β receptor II in breast cancer.
ALG3 contributes to the malignant properties of OSCC cells by regulating CDK-Cyclin pathway.
Title: ALG3 contributes to the malignant properties of OSCC cells by regulating CDK-Cyclin pathway.
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Title: Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Title: ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
ALG3 contributes to the malignancy of non-small cell lung cancer and is negatively regulated by MiR-98-5p.
Title: ALG3 contributes to the malignancy of non-small cell lung cancer and is negatively regulated by MiR-98-5p.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ALG3-congenital disorder of glycosylation MedGen: C1832736 OMIM: 601110 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85715 (e-PCR)
- UniSTS:103748

RH118405 (e-PCR)
- UniSTS:44509

D3S2399 (e-PCR)
- UniSTS:10726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-1,3-mannosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-1,3-mannosyltransferase activity	TAS Traceable Author Statement more info
enables dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dolichol-linked oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase

Names: Not56-like protein; asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog; asparagine-linked glycosylation protein 3 homolog; carbohydrate deficient glycoprotein syndrome type IV; dol-P-Man-dependent alpha(1-3)-mannosyltransferase; dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase

NP_001006942.1

EC 2.4.1.258

NP_005778.1

EC 2.4.1.258

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008924.2 RefSeqGene

Range

5551..12212

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001006941.2 → NP_001006942.1 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d

See identical proteins and their annotated locations for NP_001006942.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a.

Source sequence(s)

AK289361, AW297350, BX339649, CX761434

Consensus CDS

CCDS46967.1

UniProtKB/TrEMBL

C9J7S5

Related

ENSP00000402744.2, ENST00000445626.6

Conserved Domains (1) summary

pfam05208
Location:19 → 358

ALG3; ALG3 protein
NM_005787.6 → NP_005778.1 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a

See identical proteins and their annotated locations for NP_005778.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC061705, AW297350, BC002839, BC004313, BC021062, Y09022

Consensus CDS

CCDS46968.1

UniProtKB/Swiss-Prot

A8JZZ6, Q92685, Q9BT71

UniProtKB/TrEMBL

C9J7S5

Related

ENSP00000380793.3, ENST00000397676.8

Conserved Domains (1) summary

pfam05208
Location:48 → 406

ALG3; ALG3 protein

RNA

NR_024533.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an exon in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

AC061705, AK299575, AW297350, Y09022

Related

ENST00000411922.5
NR_024534.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

AW297350, BC004313, BM920198, Y09022

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

184242301..184249525 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

187051585..187058813 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001006940.1: Suppressed sequence

Description

NM_001006940.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.