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

Gene ID: 79053, updated on 8-Jul-2021

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
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
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Genomic context

See ALG8 in Genome Data Viewer
Location:
11q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78100946..78139643, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77811992..77850672, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene uncharacterized LOC105369401 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene KCTD21 antisense RNA 1 Neighboring gene potassium channel tetramerization domain containing 21 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene GRB2 associated binding protein 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2840

Gene Ontology Provided by GOA

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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_076984.2
XP_005274304.1
XP_011543554.1
XP_016873763.1

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

  1. NG_008926.1 RefSeqGene

    Range
    5028..43708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007027.3NP_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:22455
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
  2. NM_024079.5NP_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
    Q9BVK2
    UniProtKB/TrEMBL
    A0A024R5K5
    Related
    ENSP00000299626.5, ENST00000299626.10
    Conserved Domains (1) summary
    pfam03155
    Location:22508
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    78100946..78139643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545252.2XP_011543554.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X3

    Related
    ENSP00000506421.1, ENST00000680761.1
    Conserved Domains (1) summary
    pfam03155
    Location:1420
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
  2. XM_005274247.3XP_005274304.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005274304.1

    Conserved Domains (1) summary
    pfam03155
    Location:26499
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family
  3. XM_017018274.1XP_016873763.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

    Related
    ENSP00000506408.1, ENST00000680829.1

RNA

  1. XR_950044.3 RNA Sequence

    Related
    ENST00000679697.1
  2. XR_950045.3 RNA Sequence

    Related
    ENST00000679648.1
  3. XR_428923.4 RNA Sequence

    Related
    ENST00000680866.1
  4. XR_001747956.1 RNA Sequence

    Related
    ENST00000681351.1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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