U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase [ Homo sapiens (human) ]

Gene ID: 29880, updated on 5-May-2024

Summary

Go to the top of the page Help
Official Symbol
ALG5provided by HGNC
Official Full Name
ALG5 dolichyl-phosphate beta-glucosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:20266
See related
Ensembl:ENSG00000120697 MIM:604565; AllianceGenome:HGNC:20266
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
PKD7; bA421P11.2
Summary
This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Expression
Ubiquitous expression in thyroid (RPKM 27.6), colon (RPKM 17.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
13q13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36949738..36999367, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (36168907..36218563, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37523875..37573504, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:37500289-37500790 Neighboring gene ribosomal protein L29 pseudogene 28 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7594 Neighboring gene exosome component 8 Neighboring gene SPT20 homolog, SAGA complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5271 Neighboring gene casein kinase 1 alpha 1 like

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. Lemoine H, et al. Am J Hum Genet, 2022 Aug 4. PMID 35896117, Free PMC Article
  2. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Imbach T, et al. Proc Natl Acad Sci U S A, 1999 Jun 8. PMID 10359825, Free PMC Article
  3. Polycystic Kidney Disease, Autosomal Dominant. Adam MP, et al. , 1993. PMID 20301424
  4. Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6. Talbot BE, et al. J Biol Chem, 2019 Aug 23. PMID 31266804, Free PMC Article
  5. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. Méant A, et al. Mol Cell Proteomics, 2020 Jan. PMID 31678930, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
    Title: Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Polycystic kidney disease 7
MedGen: C5774222 OMIM: 620056 GeneReviews: Polycystic Kidney Disease, Autosomal Dominant
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dolichyl-phosphate beta-glucosyltransferase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables dolichyl-phosphate beta-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 determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in dolichol-linked oligosaccharide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytoplasmic side of rough endoplasmic reticulum membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 
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
  
located_in membrane HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
dolichyl-phosphate beta-glucosyltransferase
Names
Alg5, S. cerevisiae, homolog of
asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)
asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)
asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog
asparagine-linked glycosylation protein 5 homolog
dolP-glucosyltransferase
dolichyl phosphate glucosyltransferase
NP_001135836.1
NP_037470.1
XP_047286239.1
XP_054230459.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001142364.1 → NP_001135836.1  dolichyl-phosphate beta-glucosyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001135836.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter than isoform 1.
    Source sequence(s)
    AK299085, BP246765, BU739112
    Consensus CDS
    CCDS45033.1
    UniProtKB/TrEMBL
    Q9HC03
    Related
    ENSP00000390533.1, ENST00000443765.6
    Conserved Domains (1) summary
    cd04188
    Location:69 → 259
    DPG_synthase; DPG_synthase is involved in protein N-linked glycosylation

  2. NM_013338.5 → NP_037470.1  dolichyl-phosphate beta-glucosyltransferase isoform 1

    See identical proteins and their annotated locations for NP_037470.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL138706, BC012531, BP246765, BU739112
    Consensus CDS
    CCDS9361.1
    UniProtKB/Swiss-Prot
    B4DR37, Q5TBA6, Q9Y673
    UniProtKB/TrEMBL
    Q9HC03
    Related
    ENSP00000239891.3, ENST00000239891.4
    Conserved Domains (1) summary
    cd04188
    Location:69 → 289
    DPG_synthase; DPG_synthase is involved in protein N-linked glycosylation

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

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    36949738..36999367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430283.1 → XP_047286239.1  dolichyl-phosphate beta-glucosyltransferase isoform X1

    Related
    ENSP00000505408.1, ENST00000679673.1

RNA

  1. XR_007063678.1 RNA Sequence

    Related
    ENST00000681581.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    36168907..36218563 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374484.1 → XP_054230459.1  dolichyl-phosphate beta-glucosyltransferase isoform X1

RNA

  1. XR_008488758.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y673.1 GenPept UniProtKB/Swiss-Prot:Q9Y673

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous