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

    Gene ID: 10195, updated on 17-Jun-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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (184242301..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_005787.6NP_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)
      AC061705, 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.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      184242301..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.
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