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    GANAB glucosidase II alpha subunit [ Homo sapiens (human) ]

    Gene ID: 23193, updated on 8-Jul-2021

    Summary

    Official Symbol
    GANABprovided by HGNC
    Official Full Name
    glucosidase II alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4138
    See related
    Ensembl:ENSG00000089597 MIM:104160
    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
    G2AN; GIIA; PKD3; GLUII
    Summary
    This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 85.4), placenta (RPKM 75.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See GANAB in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62624829..62646613, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62392301..62414085, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene retinal outer segment membrane protein 1 Neighboring gene beta-1,3-glucuronyltransferase 3 Neighboring gene integrator complex subunit 5 Neighboring gene chromosome 11 open reading frame 98 Neighboring gene LBH domain containing 1

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of glucosidase, alpha; neutral AB (GANAB) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with glucosidase, alpha; neutral AB (GANAB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env The alpha-glucosidase inhibitor N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV-1 entry and this inhibition correlates with impaired HIV-1 gp120 shedding and gp41 exposure and with changes in antibody recognition of gp120 PubMed
    env Imino sugar N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV envelope glycoprotein gp120 processing mediated by alpha glucosidase I PubMed
    env Glucosidase inhibitors inhibit the syncytium formation between HIV-infected and CD4-expressing cells and interfere with HIV-1 infectivity, indicating processing of HIV-1 gp120 by glucosidase is important for virus replication PubMed
    env HIV-1 gp120 is extremely heavily glycosylated (31-36 N-linked glycans per molecule) by glucosidase PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with glucosidase, alpha; neutral AB (GANAB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    env Inhibitors of alpha-glucosidase inhibit syncytium formation induced by the envelope glycoprotein of HIV-1 and reduce processing of the HIV-1 envelope precursor protein gp160 by glucosidase PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0088

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables alpha-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables alpha-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glucan 1,3-alpha-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glucan 1,3-alpha-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in N-glycan processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    part_of glucosidase II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of glucosidase II complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    neutral alpha-glucosidase AB
    Names
    alpha-glucosidase 2
    NP_001265121.1
    NP_001265122.1
    NP_001265123.1
    NP_001316151.1
    NP_001316152.1
    NP_001316153.1
    NP_001316154.1
    NP_938148.1
    NP_938149.2
    XP_016872901.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053018.1 RefSeqGene

      Range
      5114..26898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278192.2NP_001265121.1  neutral alpha-glucosidase AB isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three consecutive exons in the 5' coding region but maintains the reading frame, compared to variant 3. The resulting isoform (4) lacks an internal segment, compared to isoform 3.
      Source sequence(s)
      AF144074, AK302752, AK314370, D42041
      Consensus CDS
      CCDS60818.1
      UniProtKB/Swiss-Prot
      Q14697
      UniProtKB/TrEMBL
      B4DZ53, E9PKU7
      Related
      ENSP00000435306.1, ENST00000534779.5
      Conserved Domains (3) summary
      cd06603
      Location:292759
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:152292
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:273718
      Glyco_hydro_31; Glycosyl hydrolases family 31
    2. NM_001278193.2NP_001265122.1  neutral alpha-glucosidase AB isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 3. The resulting isoform (5) lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AK295806, AK314370, D42041
      UniProtKB/Swiss-Prot
      Q14697
      UniProtKB/TrEMBL
      B4DIW2
      Conserved Domains (3) summary
      cd06603
      Location:270737
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:130270
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:251696
      Glyco_hydro_31; Glycosyl hydrolases family 31
    3. NM_001278194.2NP_001265123.1  neutral alpha-glucosidase AB isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region including translation initiation at a downstream start codon, but maintains the reading frame, compared to variant 3. The resulting isoform (6) has a shorter N-terminus, compared to isoform 6.
      Source sequence(s)
      AK299819, AK314370, D42041, DC400833
      Consensus CDS
      CCDS60817.1
      UniProtKB/Swiss-Prot
      Q14697
      UniProtKB/TrEMBL
      B4DSM6, F5H6X6
      Related
      ENSP00000442962.1, ENST00000540933.5
      Conserved Domains (3) summary
      cd06603
      Location:287754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:268713
      Glyco_hydro_31; Glycosyl hydrolases family 31
    4. NM_001329222.2NP_001316151.1  neutral alpha-glucosidase AB isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      Consensus CDS
      CCDS60817.1
      UniProtKB/TrEMBL
      F5H6X6, V9HWJ0
      Related
      ENSP00000497655.1, ENST00000648273.1
      Conserved Domains (3) summary
      cd06603
      Location:287754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:268713
      Glyco_hydro_31; Glycosyl hydrolases family 31
    5. NM_001329223.2NP_001316152.1  neutral alpha-glucosidase AB isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      Consensus CDS
      CCDS60817.1
      UniProtKB/TrEMBL
      F5H6X6, V9HWJ0
      Conserved Domains (3) summary
      cd06603
      Location:287754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:268713
      Glyco_hydro_31; Glycosyl hydrolases family 31
    6. NM_001329224.2NP_001316153.1  neutral alpha-glucosidase AB isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      UniProtKB/TrEMBL
      V9HWJ0
    7. NM_001329225.2NP_001316154.1  neutral alpha-glucosidase AB isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      UniProtKB/TrEMBL
      V9HWJ0
    8. NM_198334.3NP_938148.1  neutral alpha-glucosidase AB isoform 2 precursor

      See identical proteins and their annotated locations for NP_938148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 3. The resulting isoform (2, also known as the alpha1 isoform) lacks an internal segment, compared to isoform 3.
      Source sequence(s)
      AK026997, AK314370, D42041
      Consensus CDS
      CCDS8026.1
      UniProtKB/Swiss-Prot
      Q14697
      UniProtKB/TrEMBL
      V9HWJ0
      Related
      ENSP00000349053.3, ENST00000356638.8
      Conserved Domains (3) summary
      cd06603
      Location:384851
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:244384
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:365810
      Glyco_hydro_31; Glycosyl hydrolases family 31
    9. NM_198335.4NP_938149.2  neutral alpha-glucosidase AB isoform 3 precursor

      See identical proteins and their annotated locations for NP_938149.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3, also known as the alpha2 isoform).
      Source sequence(s)
      AA618561, AF144074, BC065266
      Consensus CDS
      CCDS41656.1
      UniProtKB/Swiss-Prot
      Q14697
      Related
      ENSP00000340466.4, ENST00000346178.8
      Conserved Domains (3) summary
      cd06603
      Location:406873
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:266406
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam17137
      Location:849918
      DUF5110; Domain of unknown function (DUF5110)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      62624829..62646613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017412.1XP_016872901.1  neutral alpha-glucosidase AB isoform X1

      UniProtKB/TrEMBL
      F5H6X6
      Conserved Domains (3) summary
      cd06603
      Location:287754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:268713
      Glyco_hydro_31; Glycosyl hydrolases family 31

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014610.3: Suppressed sequence

      Description
      NM_014610.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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