Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

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Reviewed, UniProtKB/Swiss-Prot Q92685 (ALG3_HUMAN)

Last modified July 22, 2008. Version 69. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
    EC=2.4.1.130
Alternative name(s):
    Dol-P-Man-dependent alpha(1-3)-mannosyltransferase
    Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
    Asparagine-linked glycosylation protein 3
    Not56-like protein

Gene names

Name:	ALG3
Synonyms:	NOT, NOT56L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	438 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.
Catalytic activity	Transfers an alpha-D-mannosyl residue from dolichyl-phosphate D-mannose into membrane lipid-linked oligosaccharide.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane proteinProbable.
Involvement in disease	Defects in ALG3 are the cause of congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]; also known as carbohydrate-deficient glycoprotein syndrome type IV (CDGS4). CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins.
Sequence similarities	Belongs to the glycosyltransferase 58 family.

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Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane
Molecular function	Glycosyltransferase Transferase
Gene Ontology (GO)
Biological process	protein amino acid glycosylation Ref.3 Non-traceable author statement. Source: UniProtKB
Cellular component	endoplasmic reticulum membrane Ref.3 Inferred from direct assay. Source: UniProtKB
Molecular function	alpha-1,3-mannosyltransferase activity Ref.3 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Chain

1 – 438

438

Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

Regions

Transmembrane

41 – 61

Potential

Transmembrane

95 – 115

Potential

Transmembrane

123 – 143

Potential

Transmembrane

149 – 169

Potential

Transmembrane

172 – 192

Potential

Transmembrane

203 – 223

Potential

Transmembrane

231 – 251

Potential

Transmembrane

289 – 309

Potential

Transmembrane

332 – 352

Potential

Transmembrane

356 – 376

Potential

Transmembrane

407 – 427

Potential

Natural variations

Natural variant

107

I → V: dbSNP rs2233463.

Natural variant

118

G → D in CDG1D. dbSNP rs28940588.

Natural variant

171

R → Q in CDG1D.

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Sequences

Sequence

Length

Mass (Da)

Tools

Q92685-1 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: 687FC8E4A588FD9C
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FASTA

438

50,126

        10         20         30         40         50         60 
MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC LAEVGITFWV 

        70         80         90        100        110        120 
IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY PAGFVYIFMG LYYATSRGTD 

       130        140        150        160        170        180 
IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA SYRVHSIFVL RLFNDPVAMV 

       190        200        210        220        230        240 
LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG 

       250        260        270        280        290        300 
LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL 

       310        320        330        340        350        360 
LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI CFSRSLHYQF 

       370        380        390        400        410        420 
YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP STSCSSAALH ICHAVILLQL 

       430 
WLGPQPFPKS TQHSKKAH

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sequence of the human homologue of the Drosophila melanogaster Not56 protein and its expression in various tissues." Kurzik-Dumke U., Kaymer M. Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain and Placenta.
[3]	"Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase." Koerner C., Knauer R., Stephani U., Marquardt T., Lehle L., von Figura K. EMBO J. 18:6816-6822(1999) [PubMed: 10581255] [Abstract] Cited for: CHARACTERIZATION, VARIANT CDG1D ASP-118.
[4]	"Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia." Sun L., Eklund E.A., Chung W.K., Wang C., Cohen J., Freeze H.H. J. Clin. Endocrinol. Metab. 90:4371-4375(2005) [PubMed: 15840742] [Abstract] Cited for: VARIANT CDG1D GLN-171.
+	Additional computationally mapped references.

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Web resources

GeneReviews

GGDB

GlycoGene database

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Cross-references

Sequence databases
	Y09022 mRNA. Translation: CAA70220.1. BC002839 mRNA. Translation: AAH02839.1. BC004313 mRNA. Translation: AAH04313.1.
RefSeq	NP_005778.1.
UniGene	Hs.478481
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000214160. Homo sapiens. [Contig view]
GeneID	10195.
KEGG	hsa:10195.
Organism-specific databases
H-InvDB	HIX0003915.
HGNC	HGNC:23056. ALG3.
MIM	601110. phenotype. 608750. gene.
Orphanet	137. CDG syndrome. 79321. CDG syndrome type Id.
PharmGKB	PA134897460.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q92685.
Gene expression databases
CleanEx	HS_ALG3.
Family and domain databases
InterPro	IPR007873. ALG3. [Graphical view]
PANTHER	PTHR12646. ALG3. 1 hit.
Pfam	PF05208. ALG3. 1 hit. [Graphical view]
ProDom	Q92685. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

ALG3_HUMAN

Accession

Primary (citable) accession number: Q92685
Secondary accession number(s): Q9BT71

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	February 1, 1997
Last modified:	July 22, 2008
This is version 69 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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