ALG1
Identifiers
Aliases	ALG1, CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1, chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
External IDs	OMIM: 605907; MGI: 2384774; HomoloGene: 5387; GeneCards: ALG1; OMA:ALG1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 5,033,702 bp[1] End 5,087,379 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A1 Start 5,051,485 bp[2] End 5,062,776 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium buccal mucosa cell body of pancreas left adrenal gland right adrenal cortex mucosa of transverse colon left adrenal cortex body of stomach islet of Langerhans right testis Top expressed in right kidney vestibular membrane of cochlear duct otic vesicle proximal tubule utricle stroma of bone marrow saccule lacrimal gland neural layer of retina molar More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity glycosyltransferase activity mannosyltransferase activity chitobiosyldiphosphodolichol beta-mannosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process dolichol-linked oligosaccharide biosynthetic process mannosylation protein glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56052 208211 Ensembl ENSG00000033011 ENSMUSG00000039427 UniProt Q9BT22 Q921Q3 RefSeq (mRNA) NM_019109 NM_001330504 NM_145362 RefSeq (protein) NP_001317433 NP_061982 NP_663337 Location (UCSC) Chr 16: 5.03 – 5.09 Mb Chr 16: 5.05 – 5.06 Mb PubMed search [3] [4]
Wikidata
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Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1^[5] whose structure and function has been conserved from lower to higher organisms.^[6][7]

Function

The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. The Alg1 mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.^[6] Clinically, the deficiency of ALG1 in humans results in ALG1-CDG, a congenital disorder of glycosylation.^[8]