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ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [ Homo sapiens (human) ]

Gene ID: 56052, updated on 11-Sep-2019

Summary

Official Symbol
ALG1provided by HGNC
Official Full Name
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:18294
See related
Ensembl:ENSG00000033011 MIM:605907
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
HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1
Summary
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in testis (RPKM 6.0), colon (RPKM 5.8) and 25 other tissues See more
Orthologs

Genomic context

See ALG1 in Genome Data Viewer
Location:
16p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (5071825..5087379)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5121810..5137380)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NAGPA antisense RNA 1 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Neighboring gene chromosome 16 open reading frame 89 Neighboring gene eukaryotic elongation factor 2 lysine methyltransferase Neighboring gene uncharacterized LOC107984828 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 Neighboring gene uncharacterized LOC105371067 Neighboring gene long intergenic non-protein coding RNA 2164

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chitobiosyldiphosphodolichol beta-mannosyltransferase activity TAS
Traceable Author Statement
more info
 
mannosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
chitobiosyldiphosphodolichol beta-mannosyltransferase
Names
GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog
asparagine-linked glycosylation protein 1 homolog
beta-1,4-mannosyltransferase
mannosyltransferase-1
NP_001317433.1
NP_061982.3
XP_016878946.1
XP_016878947.1

NCBI Reference Sequences (RefSeq)

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_009202.1 RefSeqGene

    Range
    5001..20571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330504.1NP_001317433.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1
    Source sequence(s)
    AA810665, AC026458, AK298144, BX370817
    Consensus CDS
    CCDS81946.1
    UniProtKB/Swiss-Prot
    Q9BT22
    Related
    ENSP00000440019.1, ENST00000544428.1
  2. NM_019109.5NP_061982.3  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 1

    See identical proteins and their annotated locations for NP_061982.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026458
    Consensus CDS
    CCDS10528.1
    UniProtKB/Swiss-Prot
    Q9BT22
    Related
    ENSP00000262374.4, ENST00000262374.9
    Conserved Domains (2) summary
    cd03816
    Location:30461
    GT1_ALG1_like; This family is most closely related to the GT1 family of glycosyltransferases. The yeast gene ALG1 has been shown to function as a mannosyltransferase that catalyzes the formation of dolichol pyrophosphate (Dol-PP)-GlcNAc2Man from GDP-Man and ...
    PLN02275
    Location:27424
    PLN02275; transferase, transferring glycosyl groups

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    5071825..5087379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023457.2XP_016878946.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform X1

  2. XM_017023458.1XP_016878947.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform X2

    UniProtKB/Swiss-Prot
    Q9BT22
    Related
    ENSP00000468118.1, ENST00000588623.5
    Conserved Domains (2) summary
    cd03816
    Location:1350
    GT1_ALG1_like; This family is most closely related to the GT1 family of glycosyltransferases. The yeast gene ALG1 has been shown to function as a mannosyltransferase that catalyzes the formation of dolichol pyrophosphate (Dol-PP)-GlcNAc2Man from GDP-Man and ...
    PLN02275
    Location:3313
    PLN02275; transferase, transferring glycosyl groups

RNA

  1. XR_932882.3 RNA Sequence

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