Q92685 (ALG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
EC=2.4.1.258

Alternative name(s):
Asparagine-linked glycosylation protein 3 homolog
Dol-P-Man-dependent alpha(1-3)-mannosyltransferase
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
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.
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. Ref.3
Catalytic activity	Dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
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.6
Sequence similarities	Belongs to the glycosyltransferase 58 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular component	endoplasmic reticulum membrane Inferred from direct assay Ref.3. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	alpha-1,3-mannosyltransferase activity Inferred from direct assay Ref.3. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 438	438	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase		PRO_0000080566
Regions
	Transmembrane	41 – 61	21	Helical; Potential
	Transmembrane	95 – 115	21	Helical; Potential
	Transmembrane	123 – 143	21	Helical; Potential
	Transmembrane	149 – 169	21	Helical; Potential
	Transmembrane	172 – 192	21	Helical; Potential
	Transmembrane	203 – 223	21	Helical; Potential
	Transmembrane	231 – 251	21	Helical; Potential
	Transmembrane	289 – 309	21	Helical; Potential
	Transmembrane	332 – 352	21	Helical; Potential
	Transmembrane	356 – 376	21	Helical; Potential
	Transmembrane	407 – 427	21	Helical; Potential
Amino acid modifications
	Modified residue	13	1	Phosphoserine Ref.4 Ref.5
Natural variations
	Natural variant	107	1	I → V. Corresponds to variant rs2233463 [ dbSNP | Ensembl ].		VAR_037805
	Natural variant	118	1	G → D in CDG1D. Ref.3 Corresponds to variant rs28940588 [ dbSNP | Ensembl ].		VAR_010306
	Natural variant	171	1	R → Q in CDG1D. Ref.6		VAR_037806

Sequences

	Sequence		Length	Mass (Da)
	Q92685 [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, FUNCTION.
[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. Tissue: Cervix carcinoma.
[5]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-13, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[6]	"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.

Web resources

GeneReviews

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y09022 mRNA. Translation: CAA70220.1. BC002839 mRNA. Translation: AAH02839.1. BC004313 mRNA. Translation: AAH04313.1.
IPI	IPI00178700.
RefSeq	NP_005778.1. NM_005787.5.
UniGene	Hs.478481.
3D structure databases
ProteinModelPortal	Q92685.
ModBase	Search...
Protein-protein interaction databases
STRING	Q92685.
Protein family/group databases
CAZy	GT58. Glycosyltransferase Family 58.
PTM databases
PhosphoSite	Q92685.
Polymorphism databases
DMDM	3024226.
Proteomic databases
PRIDE	Q92685.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000397676; ENSP00000380793; ENSG00000214160.
GeneID	10195.
KEGG	hsa:10195.
UCSC	uc003fne.1. human.
Organism-specific databases
CTD	10195.
GeneCards	GC03M183960.
H-InvDB	HIX0003915.
HGNC	HGNC:23056. ALG3.
HPA	HPA045103.
MIM	601110. phenotype. 608750. gene.
neXtProt	NX_Q92685.
Orphanet	79321. CDG syndrome type Id.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000013904.
HOGENOM	HBG525447.
HOVERGEN	HBG002070.
InParanoid	Q92685.
OMA	IHRVAYT.
PhylomeDB	Q92685.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q92685.
Bgee	Q92685.
CleanEx	HS_ALG3.
Genevestigator	Q92685.
Family and domain databases
InterPro	IPR007873. Glycosyltransferase_ALG3. [Graphical view]
KO	K03845.
PANTHER	PTHR12646. ALG3. 1 hit.
Pfam	PF05208. ALG3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
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:	January 25, 2012
This is version 104 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.