Format

Send to:

Choose Destination

ALG3 ALG3 alpha-1,3- mannosyltransferase [ Homo sapiens (human) ]

Gene ID: 10195, updated on 17-Feb-2019

Summary

Official Symbol
ALG3provided by HGNC
Official Full Name
ALG3 alpha-1,3- mannosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:23056
See related
Ensembl:ENSG00000214160 MIM:608750
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e
Summary
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Expression
Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues See more
Orthologs

Genomic context

See ALG3 in Genome Data Viewer
Location:
3q27.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (184242329..184258301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183960117..183967313, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene microRNA 1224 Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene endothelin converting enzyme 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,3-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-1,3-mannosyltransferase activity TAS
Traceable Author Statement
more info
 
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
Names
Not56-like protein
asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)
asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)
asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog
asparagine-linked glycosylation protein 3 homolog
carbohydrate deficient glycoprotein syndrome type IV
dol-P-Man-dependent alpha(1-3)-mannosyltransferase
dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
NP_001006942.1
NP_005778.1
XP_011510624.1
XP_011510625.1
XP_024309064.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008924.2 RefSeqGene

    Range
    5542..12184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001006941.2NP_001006942.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d

    See identical proteins and their annotated locations for NP_001006942.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK289361, AW297350, BX339649, CX761434
    Consensus CDS
    CCDS46967.1
    UniProtKB/Swiss-Prot
    Q92685
    Related
    ENSP00000402744.2, ENST00000445626.6
    Conserved Domains (1) summary
    pfam05208
    Location:19358
    ALG3; ALG3 protein
  2. NM_005787.5NP_005778.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a

    See identical proteins and their annotated locations for NP_005778.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AW297350, BC002839, BC004313, BC021062, Y09022
    Consensus CDS
    CCDS46968.1
    UniProtKB/Swiss-Prot
    Q92685
    Related
    ENSP00000380793.3, ENST00000397676.7
    Conserved Domains (1) summary
    pfam05208
    Location:48406
    ALG3; ALG3 protein

RNA

  1. NR_024533.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AC061705, AK299575, AW297350, Y09022
    Related
    ENST00000411922.5
  2. NR_024534.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AW297350, BC004313, BM920198, Y09022

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    184242329..184258301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453296.1XP_024309064.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform X3

    Conserved Domains (1) summary
    pfam05208
    Location:1332
    ALG3; ALG3 protein
  2. XM_011512323.2XP_011510625.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform X2

    UniProtKB/TrEMBL
    C9J7S5
    Related
    ENSP00000397613.1, ENST00000455059.5
    Conserved Domains (1) summary
    pfam05208
    Location:27366
    ALG3; ALG3 protein
  3. XM_011512322.1XP_011510624.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform X1

    Conserved Domains (1) summary
    pfam05208
    Location:34373
    ALG3; ALG3 protein

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001006940.1: Suppressed sequence

    Description
    NM_001006940.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Support Center