Reviewed, UniProtKB/Swiss-Prot Q92685 (ALG3_HUMAN)

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

Protein attributes

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

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 protein Probable.
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. Ref.3 Ref.5
Sequence similarities	Belongs to the glycosyltransferase 58 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Phosphoprotein
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 integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	alpha-1,3-mannosyltransferase activity Ref.3 Inferred from direct assay. Source: UniProtKB dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 438	438	Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase		PRO_0000080566
Regions
	Transmembrane	41 – 61	21	Potential
	Transmembrane	95 – 115	21	Potential
	Transmembrane	123 – 143	21	Potential
	Transmembrane	149 – 169	21	Potential
	Transmembrane	172 – 192	21	Potential
	Transmembrane	203 – 223	21	Potential
	Transmembrane	231 – 251	21	Potential
	Transmembrane	289 – 309	21	Potential
	Transmembrane	332 – 352	21	Potential
	Transmembrane	356 – 376	21	Potential
	Transmembrane	407 – 427	21	Potential
Amino acid modifications
	Modified residue	13	1	Phosphoserine Ref.4
Natural variations
	Natural variant	107	1	I → V: dbSNP rs2233463.		VAR_037805
	Natural variant	118	1	G → D in CDG1D. dbSNP rs28940588. Ref.3		VAR_010306
	Natural variant	171	1	R → Q in CDG1D. Ref.5		VAR_037806

Sequences

	Sequence		Length	Mass (Da)
	Q92685-1 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 687FC8E4A588FD9C	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

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]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-13, MASS SPECTROMETRY.
[5]	"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.

Web resources

GeneReviews

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBLGenBankDDBJ	Y09022 mRNA. Translation: CAA70220.1. BC002839 mRNA. Translation: AAH02839.1. BC004313 mRNA. Translation: AAH04313.1.
IPI	IPI00178700.
RefSeq	NP_005778.1.
UniGene	Hs.478481
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT58. Glycosyltransferase Family 58.
PTM databases
PhosphoSite	Q92685.
Proteomic databases
PRIDE	Q92685.
Genome annotation databases
Ensembl	ENSG00000214160. Homo sapiens. [Contig view]
GeneID	10195.
KEGG	hsa:10195.
Organism-specific databases
GeneCards	GC03M185442.
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...
Phylogenomic databases
HOVERGEN	Q92685.
Enzyme and pathway databases
BRENDA	2.4.1.130. 247.
Gene expression databases
Bgee	Q92685.
CleanEx	HS_ALG3.
Family and domain databases
InterPro	IPR007873. Glycosyltransferase_ALG3. [Graphical view]
PANTHER	PTHR12646. ALG3. 1 hit.
Pfam	PF05208. ALG3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	38584.
SOURCE	Search...

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:	June 16, 2009
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)