ALG1

Protein-coding gene in the species Homo sapiens
ALG1
Identifiers
AliasesALG1, CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1, chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
External IDsOMIM: 605907; MGI: 2384774; HomoloGene: 5387; GeneCards: ALG1; OMA:ALG1 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for ALG1
Genomic location for ALG1
Band16p13.3Start5,033,702 bp[1]
End5,087,379 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for ALG1
Genomic location for ALG1
Band16|16 A1Start5,051,485 bp[2]
End5,062,776 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • body of pancreas

  • left adrenal gland

  • body of stomach

  • islet of Langerhans

  • rectum

  • bone marrow cells

  • minor salivary glands

  • right lobe of liver

  • monocyte
Top expressed in
  • proximal tubule

  • utricle

  • saccule

  • lacrimal gland

  • molar

  • islet of Langerhans

  • parotid gland

  • cerebellar cortex

  • seminal vesicula

  • medullary collecting duct
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
SpeciesHumanMouse
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 MbChr 16: 5.05 – 5.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000033011 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039427 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Couto JR, Huffaker TC, Robbins PW (1984). "Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway". J. Biol. Chem. 259 (1): 378–82. doi:10.1016/S0021-9258(17)43670-2. PMID 6368538.
  6. ^ a b "Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)".
  7. ^ Takahashi T, Honda R, Nishikawa Y (Mar 2000). "Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1". Glycobiology. 10 (3): 321–7. doi:10.1093/glycob/10.3.321. PMID 10704531.
  8. ^ "# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K". Johns Hopkins University. Retrieved 2019-05-01.

Further reading

  • Couto JR, Huffaker TC, Robbins PW (January 1984). "Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway". J. Biol. Chem. 259 (1): 378–82. doi:10.1016/S0021-9258(17)43670-2. PMID 6368538.
  • Gao XD, Nishikawa A, Dean N (June 2004). "Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum". Glycobiology. 14 (6): 559–70. doi:10.1093/glycob/cwh072. PMID 15044395.
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Kranz C, Denecke J, Lehle L, et al. (2004). "Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I". Am. J. Hum. Genet. 74 (3): 545–51. doi:10.1086/382493. PMC 1182267. PMID 14973782.
  • Schwarz M, Thiel C, Lübbehusen J, et al. (2004). "Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik". Am. J. Hum. Genet. 74 (3): 472–81. doi:10.1086/382492. PMC 1182261. PMID 14973778.
  • Grubenmann CE, Frank CG, Hülsmeier AJ, et al. (2004). "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik". Hum. Mol. Genet. 13 (5): 535–42. doi:10.1093/hmg/ddh050. hdl:20.500.11850/51881. PMID 14709599.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

External links

  • GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
  • Human ALG1 genome location and ALG1 gene details page in the UCSC Genome Browser.
  • v
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  • e
2.4.1: Hexosyl-
transferases
Glucosyl-
Galactosyl-
Glucuronosyl-
Fucosyl-
Mannosyl-
2.4.2: Pentosyl-
transferases
Ribose
ADP-ribosyltransferase
Phosphoribosyltransferase
Other
Other
2.4.99: Sialyl
transferases