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

Gene ID: 29929, updated on 8-Jul-2021

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
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
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Genomic context

See ALG6 in Genome Data Viewer
Location:
1p31.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (63367627..63438553)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63833298..63904224)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 6068 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene Neighboring gene integrin subunit beta 3 binding protein Neighboring gene uncharacterized LOC102724319 Neighboring gene RNA, 7SL, cytoplasmic 488, pseudogene Neighboring gene EF-hand calcium binding domain 7

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

General protein information

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

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_008925.2 RefSeqGene

    Range
    5038..75964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1260

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL592218, BC001253, BI819904
    Consensus CDS
    CCDS30735.1
    UniProtKB/Swiss-Prot
    Q9Y672
    Related
    ENSP00000263440.5, ENST00000263440.6
    Conserved Domains (1) summary
    pfam03155
    Location:32485
    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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    63367627..63438553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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