ALG8 ALG8 alpha-1,3-glucosyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALG8provided by HGNC
Official Full Name: ALG8 alpha-1,3-glucosyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:23161
See related: Ensembl:ENSG00000159063 MIM:608103; AllianceGenome:HGNC:23161
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: CDG1H; PCLD3
Summary: This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 16.1), adrenal (RPKM 9.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (78100946..78139626, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (78034182..78072868, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (77811992..77850672, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.
Title: ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.
analysis of genetic variants in ALG8 in patients with congenital disorders of glycosylation
Title: Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.
In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions
Title: ALG8-CDG: novel patients and review of the literature.
We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs.
Title: Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8
Title: Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
Title: Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih.
Title: Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

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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
ALG8 congenital disorder of glycosylation MedGen: C2931002 OMIM: 608104 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs
Polycystic liver disease 3 with or without kidney cysts MedGen: C4693472 OMIM: 617874 GeneReviews: Not available	Compare labs

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

D8S2279 (e-PCR)
- UniSTS:473907

STS-N35710 (e-PCR)
- UniSTS:71995

Homology

Homologs of the ALG8 gene: The ALG8 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 475 organisms have orthologs with human gene ALG8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-1,3-mannosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS Traceable Author Statement 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 mannosylation	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide-lipid intermediate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein N-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein N-linked glycosylation via asparagine	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Names: HUSSY-02; asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein; asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog; asparagine-linked glycosylation protein 8 homolog; dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase; dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase; dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase

NP_001007028.1

EC 2.4.1.265

NP_076984.2

EC 2.4.1.265

XP_005274304.1

EC 2.4.1.265

XP_047283534.1

EC 2.4.1.265

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_008926.1 RefSeqGene

Range

5028..43708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001007027.3 → NP_001007028.1 probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b

See identical proteins and their annotated locations for NP_001007028.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AA375954, AK098614

Consensus CDS

CCDS41692.1

UniProtKB/Swiss-Prot

Q9BVK2

Related

ENSP00000365326.3, ENST00000376156.7

Conserved Domains (1) summary

pfam03155
Location:22 → 455

Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
NM_024079.5 → NP_076984.2 probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform a

See identical proteins and their annotated locations for NP_076984.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).

Source sequence(s)

AK098614, DB362104

Consensus CDS

CCDS8258.1

UniProtKB/Swiss-Prot

O60860, Q9BVK2

UniProtKB/TrEMBL

A0A024R5K5

Related

ENSP00000299626.5, ENST00000299626.10

Conserved Domains (1) summary

pfam03155
Location:22 → 508

Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

78100946..78139626 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005274247.4 → XP_005274304.1 probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1

See identical proteins and their annotated locations for XP_005274304.1

Related

ENSP00000437033.2, ENST00000530910.6

Conserved Domains (1) summary

pfam03155
Location:26 → 499

Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
XM_047427578.1 → XP_047283534.1 probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

Related

ENSP00000506408.1, ENST00000680829.1

RNA

XR_950044.4 RNA Sequence

Related

ENST00000680866.1
XR_007062497.1 RNA Sequence

Related

ENST00000681957.1
XR_001747956.2 RNA Sequence

Related

ENST00000681351.1

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

78034182..78072868 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001007028.1: Suppressed sequence

Description

NM_001007028.1: This RefSeq was permanently suppressed because the CDS incorrectly begins at an internal methionine. Correcting the CDS results in a truncated protein of 31 aa.