ALG6 ALG6 alpha-1,3-glucosyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALG6provided by HGNC
Official Full Name: ALG6 alpha-1,3-glucosyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:23157
See related: Ensembl:ENSG00000088035 MIM:604566; AllianceGenome:HGNC:23157
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: CDG1C
Summary: This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 4.0), appendix (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (63367627..63438553)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (63243301..63314233)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (63833298..63904224)

Chromosome 1 - NC_000001.11 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 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?

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Title: Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Title: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
ALG6-CDG has been now described in 89 patients.
Title: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A).
Title: Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.
Title: Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Title: A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ALG6-congenital disorder of glycosylation 1C MedGen: C2930997 OMIM: 603147 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	not available

Variation

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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

ALG6_9608 (e-PCR)
- UniSTS:468276

SHGC-34347 (e-PCR)
- UniSTS:45640

G16184 (e-PCR)
- UniSTS:40780

MARC_31587-31588:1062527482:1 (e-PCR)
- UniSTS:269200

RH68218 (e-PCR)
- UniSTS:32936

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS Traceable Author Statement more info
enables glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dolichol-linked oligosaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dolichol-linked oligosaccharide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dolichol-linked oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in lumenal side of endoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Names: Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog; asparagine-linked glycosylation protein 6 homolog; dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase; dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase; dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase

NP_037471.2

EC 2.4.1.267

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_008925.2 RefSeqGene

Range

5038..75964

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1260

mRNA and Protein(s)

NM_013339.4 → NP_037471.2 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Status: REVIEWED

Source sequence(s)

AL592218, BC001253, BI819904

Consensus CDS

CCDS30735.1

UniProtKB/Swiss-Prot

B3KMU2, Q5SXR9, Q9H3I0, Q9Y672

Related

ENSP00000263440.5, ENST00000263440.6

Conserved Domains (1) summary

pfam03155
Location:32 → 485

Alg6_Alg8; ALG6, ALG8 glycosyltransferase family