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H-Invitational ID: HIT000031230 Accession number: BC002839 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; EC=2.4.1.258; 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;
 
 

Transcript original information
Accession number BC002839.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:3573 IMAGE:3636604
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ALG3) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ALG3);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1507[bp] (No. of exon:9)[A:326 T:350 G:357 C:474]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Placenta, choriocarcinoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1413(+) Signal: 1394-1398(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0003915
Genomic location  G-integra Help Chromosome 3
Location 3q27.1
Position 183960212- 183966734
Strand -
Possible duplicated location(s) NA
Gene structure 9 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:10195
KEGG GENES KEGG GENES(10195)
GeneCard GeneCardALG3*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000022317
Predicted CDS 7..1323;  438[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.815
Database links RefSeq NP_005778
UniProt Q92685
CCDS CCDS46968

Motif information
ORF

length(438),orf(7:1323)
MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLC
LAEVGITFWVIHRVAYTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVY
PAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVP
PFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCF
FSLAVSVKMNVLLFAPGLLFLLLTQFGFRGALPKLGICAGLQVVLGLPFL
LENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTL
LLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGI
CFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYP
STSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH*
a.a.
length
InterPro Name
length(438), motif(1:438) 438 IPR007873 Glycosyltransferase, ALG3 [Family]
length(362), motif(45:406) 362 IPR007873 Glycosyltransferase, ALG3 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000031230
H-Inv cluster ID Locus viewHIX0003915
Accession number BC002839.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; EC=2.4.1.258; 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;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q92685)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 105812551470203915489334158407421664199718669648186919762006823121406692ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol ALG3
HGNC aliases "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"
HGNC name ALG3, alpha-1,3- mannosyltransferase
DDBJ ALG3
UniProt ALG3
EC number EC 2.4.1.258Dol-P-Man:Man5GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000022317
No. of interaction 7
Interaction partner(s) HIP000022103HIP000050125HIP000060701HIP000062396HIP000070671HIP000082732HIP000097644
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:10195
KEGG GENES KEGG GENES(10195)
GeneCard GeneCardALG3*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function transferase activity, transferring hexosyl groups (GO:0016758); 
Cellular component integral to membrane (GO:0016021);  endoplasmic reticulum (GO:0005783); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P mitochondria
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA230821;  AGhsC100402; 
Affymetrix
GeneChip
HG-Focus 207396_s_at; 
HG-U133 207396_s_at; 
HG-U133A 207396_s_at; 
HG-U133A_2 207396_s_at; 
HG-U133B NA
HG-U133_Plus_2 207396_s_at; 
HG-U95 38161_at; 
HG-U95A 38161_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2708409;  2708410;  2708412;  2708413;  2708416;  2708417;  2708418;  2708421;  2708422;  2708423;  2708425;  2708426;  2847046;  2847048;  2847049; 
HuGeneFL Y09022_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P7005; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P7005;  A_24_P414269; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Congenital disorder of glycosylation, type Id (601110); 
Related information in OMIM OMIM ID:  608750;  Title: ALG3, S. CEREVISIAE, HOMOLOG OF
Co-localized orphan diseases NA
Disease related mutation MutationView:  608750
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(10195)
Disease Entrez Gene ID:(10195)
Substance Entrez Gene ID:(10195)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
22 .. 22 C/A rs199587005 - CDS Synonymous[Arg6Arg]
217 .. 217 T/C rs119103237 + CDS Nonsynonymous[Trp71Arg]
226 .. 226 T/C rs11550774 + CDS Nonsynonymous[Tyr74His]
228 .. 228 C/T rs200875721 - CDS Synonymous[Tyr74Tyr]
254 .. 254 A/G rs199565095 - CDS Nonsynonymous[Asn83Ser]
300 .. 300 T/A rs200538695 - CDS Synonymous[Leu98Leu]
325 .. 325 A/G rs2233463 + CDS Nonsynonymous[Ile107Val]
359 .. 359 G/A rs28940588 + CDS Nonsynonymous[Gly118Asp]
382 .. 382 A/T rs140738312 - CDS Nonsynonymous[Asn126Tyr]
396 .. 396 G/A rs11550775 + CDS Synonymous[Val130Val]
421 .. 421 G/A rs188264452 - CDS Nonsynonymous[Val139Ile]
463 .. 463 G/A rs200285629 - CDS Nonsynonymous[Val153Ile]
476 .. 476 T/A rs119103238 + CDS Nonsynonymous[Met157Lys]
483 .. 483 C/T rs201087932 - CDS Synonymous[Cys159Cys]
518 .. 518 G/A rs119103236 + CDS Nonsynonymous[Arg171Gln]
545 .. 545 T/G rs75446351 - CDS Nonsynonymous[Val180Gly]
566 .. 566 A/G rs201162134 - CDS Nonsynonymous[Asn187Ser]
597 .. 597 T/C rs2233464 + CDS Synonymous[Gly197Gly]
605 .. 605 T/C rs111918145 - CDS Nonsynonymous[Phe200Ser]
675 .. 675 C/T rs146607327 - CDS Synonymous[Leu223Leu]
783 .. 783 C/T rs142901178 - CDS Synonymous[Ser259Ser]
811 .. 811 C/T rs57468851 - CDS Synonymous[Leu269Leu]
840 .. 840 C/A rs199950746 - CDS Nonsynonymous[Phe278Leu]
851 .. 851 C/T rs2233466 + CDS Nonsynonymous[Ala282Val]
901 .. 901 A/C rs1687219 + CDS Nonsynonymous[Thr299Pro]
928 .. 928 A/G rs145745729 - CDS Nonsynonymous[Arg308Gly]
929 .. 929 G/T rs201049121 - CDS Nonsynonymous[Arg308Met]
951 .. 951 T/C rs2233468 + CDS Synonymous[Ser315Ser]
971 .. 971 A/T rs201776371 - CDS Nonsynonymous[Asp322Val]
977 .. 977 C/G rs2233469 + CDS Nonsynonymous[Ser324Cys]
1086 .. 1086 C/A rs80237396 - CDS Nonsynonymous[Phe360Leu]
1090 .. 1090 G/A rs186946267 - CDS Nonsynonymous[Val362Ile]
1143 .. 1143 G/T rs145300083 - CDS Nonsynonymous[Trp379Cys]
1221 .. 1221 C/T rs116621135 - CDS Synonymous[Ser405Ser]
1277 .. 1277 C/T rs79144888 - CDS Nonsynonymous[Pro424Leu]
1373 .. 1373 T/G rs706584 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer