ALG3

Protein-coding gene in the species Homo sapiens
ALG3
Identifiers
AliasesALG3, CDG1D, CDGS4, D16Ertd36e, NOT56L, Not56, CDGS6, not, alpha-1,3- mannosyltransferase, ALG3 alpha-1,3- mannosyltransferase
External IDsOMIM: 608750; MGI: 1098592; HomoloGene: 4228; GeneCards: ALG3; OMA:ALG3 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ALG3
Genomic location for ALG3
Band3q27.1Start184,242,301 bp[1]
End184,249,548 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for ALG3
Genomic location for ALG3
Band16 A3|16 12.48 cMStart20,424,124 bp[2]
End20,430,485 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • stromal cell of endometrium

  • right lobe of liver

  • right adrenal gland

  • body of pancreas

  • left adrenal gland

  • left adrenal cortex

  • right adrenal cortex

  • gonad

  • granulocyte
Top expressed in
  • otic placode

  • tail of embryo

  • otic vesicle

  • choroid plexus of fourth ventricle

  • genital tubercle

  • embryo

  • saccule

  • embryo

  • yolk sac

  • right kidney
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • glycosyltransferase activity
  • transferase activity
  • hexosyltransferase activity
  • dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity
  • alpha-1,3-mannosyltransferase activity
  • protein binding
  • mannosyltransferase activity
Cellular component
  • integral component of membrane
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
  • membrane
  • integral component of endoplasmic reticulum membrane
Biological process
  • protein glycosylation
  • dolichol-linked oligosaccharide biosynthetic process
  • mannosylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10195

208624

Ensembl

ENSG00000214160

ENSMUSG00000033809

UniProt

Q92685

Q8K2A8

RefSeq (mRNA)

NM_001006940
NM_001006941
NM_005787

NM_145939
NM_001357403
NM_001357404
NM_001357405
NM_001357406

RefSeq (protein)

NP_001006942
NP_005778

NP_666051
NP_001344332
NP_001344333
NP_001344334
NP_001344335

Location (UCSC)Chr 3: 184.24 – 184.25 MbChr 16: 20.42 – 20.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.[5][6]

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000214160 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033809 – 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. ^ Jerrold LE (Dec 1975). "Will an electric current replace the syringe for anesthesia?". Dental Student. 53 (5): 49, 54. PMID 1058125.
  6. ^ a b "Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".

Further reading

  • Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". J. Inherit. Metab. Dis. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470. S2CID 7608163.
  • Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
  • Stibler H, Stephani U, Kutsch U (1996). "Carbohydrate-deficient glycoprotein syndrome--a fourth subtype". Neuropediatrics. 26 (5): 235–7. doi:10.1055/s-2007-979762. PMID 8552211. S2CID 2733984.
  • 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.
  • Denecke J, Kranz C, Kemming D, et al. (2004). "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)". Hum. Mutat. 23 (5): 477–86. doi:10.1002/humu.20026. PMID 15108280. S2CID 20639317.
  • 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.
  • Denecke J, Kranz C, von Kleist-Retzow JCh, et al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins". Pediatr. Res. 58 (2): 248–53. doi:10.1203/01.PDR.0000169963.94378.B6. PMID 16006436.

External links


  • v
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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


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