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    ALG9 ALG9, alpha-1,2-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 79796, updated on 5-Jul-2015
    Official Symbol
    ALG9provided by HGNC
    Official Full Name
    ALG9, alpha-1,2-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:15672
    See related
    Ensembl:ENSG00000086848; HPRD:09504; MIM:606941; Vega:OTTHUMG00000166819
    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
    CDG1L; DIBD1; LOH11CR1J
    Summary
    This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Orthologs
    See ALG9 in Epigenomics, MapViewer
    Location:
    11q23
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (111782195..111871581, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111652919..111742305, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene salt-inducible kinase 2 Neighboring gene uncharacterized LOC105369493 Neighboring gene protein phosphatase 2, regulatory subunit A, beta Neighboring gene guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene chromosome 11 open reading frame 1 Neighboring gene ribosomal protein L37a pseudogene 8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21845, DKFZp586M2420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    alpha-1,2-mannosyltransferase ALG9
    Names
    asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)
    asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)
    asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog
    asparagine-linked glycosylation protein 9 homolog
    disrupted in bipolar affective disorder 1
    disrupted in bipolar disorder protein 1
    dol-P-Man dependent alpha-1,2-mannosyltransferase
    dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    loss of heterozygosity, 11, chromosomal region 1 gene J product
    NP_001071158.1
    NP_001071159.1
    NP_001071160.1
    NP_079016.2

    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_009210.1 RefSeqGene

      Range
      5001..94386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077690.1NP_001071158.1  alpha-1,2-mannosyltransferase ALG9 isoform b

      See identical proteins and their annotated locations for NP_001071158.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (b) lacks a 7-aa internal segment, compared to isoform a.
      Source sequence(s)
      AK025498, AL136927, AP001781
      Consensus CDS
      CCDS73379.1
      UniProtKB/Swiss-Prot
      Q9H6U8
      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    2. NM_001077691.1NP_001071159.1  alpha-1,2-mannosyltransferase ALG9 isoform c precursor

      See identical proteins and their annotated locations for NP_001071159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK025498, AP001781, BC009255, DA257621
      Consensus CDS
      CCDS41714.1
      UniProtKB/Swiss-Prot
      Q9H6U8
      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    3. NM_001077692.1NP_001071160.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      See identical proteins and their annotated locations for NP_001071160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and lacks a 7-aa internal segment, compared to isoform a.
      Source sequence(s)
      AK025498, AL136927, AP001781, DA257621
      Consensus CDS
      CCDS53709.1
      UniProtKB/Swiss-Prot
      Q9H6U8
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    4. NM_024740.2NP_079016.2  alpha-1,2-mannosyltransferase ALG9 isoform a

      See identical proteins and their annotated locations for NP_079016.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK025498, AP001781, BC009255
      Consensus CDS
      CCDS73380.1
      UniProtKB/Swiss-Prot
      Q9H6U8
      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      111782195..111871581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005277724.3XP_005277781.1  

      See identical proteins and their annotated locations for XP_005277781.1

      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    2. XM_005277723.3XP_005277780.1  

      See identical proteins and their annotated locations for XP_005277780.1

      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    3. XM_011542992.1XP_011541294.1  

      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    4. XM_006718913.2XP_006718976.1  

      Related
      ENSP00000482437, OTTHUMP00000276884, ENST00000616540, OTTHUMT00000391487
      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    5. XM_011542991.1XP_011541293.1  

      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    6. XM_011542990.1XP_011541292.1  

      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    7. XM_011542995.1XP_011541297.1  

      See identical proteins and their annotated locations for XP_011541297.1

      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    8. XM_011542993.1XP_011541295.1  

      See identical proteins and their annotated locations for XP_011541295.1

      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    9. XM_011542994.1XP_011541296.1  

      See identical proteins and their annotated locations for XP_011541296.1

      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    10. XM_011542996.1XP_011541298.1  

      See identical proteins and their annotated locations for XP_011541298.1

      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    11. XM_011542997.1XP_011541299.1  

      Conserved Domains (1) summary
      cl21590
      Location:1293
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    RNA

    1. XR_947864.1 RNA Sequence

    2. XR_947865.1 RNA Sequence

    3. XR_947863.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      111535968..111625360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)