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

    Gene ID: 23193, updated on 7-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:4138
    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; GIIalpha
    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
    mouse all
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    Genomic context

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    See GANAB in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62624829..62646613, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62614283..62636065, complement)
    105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr11:62384118-62384618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62384619-62385119 Neighboring gene retinal outer segment membrane protein 1 Neighboring gene beta-1,3-glucuronyltransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62388711-62389304 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:62391987-62392312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62412284-62413091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3422 Neighboring gene integrator complex subunit 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62420185-62420944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3424 Neighboring gene chromosome 11 open reading frame 98 Neighboring gene LBH domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Glycoprotein α-Subunit of Glucosidase II (GIIα) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma. Lin Q, et al. BMC Cancer, 2022 Jul 25. PMID 35879690, Free PMC Article
    2. Novel GANAB variants associated with polycystic liver disease. van de Laarschot LFM, et al. Orphanet J Rare Dis, 2020 Oct 23. PMID 33097077, Free PMC Article
    3. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Besse W, et al. Hum Mutat, 2018 Mar. PMID 29243290, Free PMC Article
    4. A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease. Reddy BV, et al. Clin J Am Soc Nephrol, 2017 Oct 6. PMID 28784653, Free PMC Article
    5. Correlation between neutral alpha-glucosidase activity and sperm DNA fragmentation. Watanabe M, et al. Andrologia, 2009 Oct. PMID 19737279

    See all (203) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
      Title: ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
    2. Glycoprotein alpha-Subunit of Glucosidase II (GIIalpha) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma.
      Title: Glycoprotein α-Subunit of Glucosidase II (GIIα) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma.
    3. Novel GANAB variants associated with polycystic liver disease.
      Title: Novel GANAB variants associated with polycystic liver disease.
    4. a novel intronic nine base pair deletion in the vicinity of the GANAB exon 24 splice donor, is reported.
      Title: A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
    5. Case Report: GANAB mutation leading to autosomal dominant polycystic kidney disease.
      Title: A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease.
    6. used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
      Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    7. Mutations in GANAB gene is associated with Autosomal-Dominant Polycystic Kidney and Liver Disease.
      Title: Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
    8. The high frequency of glucosidase II overexpression, which to the best of our knowledge has not been previously described, indicates its crucial roles in lung tumorigenesis and is thus a valuable biomarker
      Title: Glucosidase II exhibits similarity to the p53 tumor suppressor in regards to structure and behavior in response to stress signals: a potential novel cancer biomarker.
    9. Loss of the tumor suppression function of Hsp60 or GANAB contribute to aggressive cancers.
      Title: Molecular chaperones as a common set of proteins that regulate the invasion phenotype of head and neck cancer.
    10. In males being treated for infertility, neutral alpha-glucosidase activity correlated with the percentage of sperm DNA fragmentation.
      Title: Correlation between neutral alpha-glucosidase activity and sperm DNA fragmentation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0088

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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
    		  
    enables glucan 1,3-alpha-glucosidase activity IDA
    Inferred from Direct Assay
    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
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    part_of glucosidase II complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of glucosidase II complex IPI
    Inferred from Physical Interaction
    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

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    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_047282605.1
    XP_054224164.1

    NCBI Reference Sequences (RefSeq)

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    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_001278192.2 → NP_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/TrEMBL
      B4DZ53, E9PKU7
      Related
      ENSP00000435306.1, ENST00000534779.5
      Conserved Domains (3) summary
      cd06603
      Location:292 → 759
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:152 → 292
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:273 → 718
      Glyco_hydro_31; Glycosyl hydrolases family 31

    2. NM_001278193.2 → NP_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/TrEMBL
      B4DIW2
      Conserved Domains (2) summary
      cd06603
      Location:270 → 737
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:130 → 270
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

    3. NM_001278194.2 → NP_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/TrEMBL
      B4DSM6, F5H6X6
      Related
      ENSP00000442962.1, ENST00000540933.5
      Conserved Domains (3) summary
      cd06603
      Location:287 → 754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147 → 287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam17137
      Location:730 → 799
      DUF5110; Domain of unknown function (DUF5110)

    4. NM_001329222.2 → NP_001316151.1  neutral alpha-glucosidase AB isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      Consensus CDS
      CCDS60817.1
      UniProtKB/TrEMBL
      B4DSM6, F5H6X6
      Related
      ENSP00000497655.1, ENST00000648273.1
      Conserved Domains (3) summary
      cd06603
      Location:287 → 754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147 → 287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam17137
      Location:730 → 799
      DUF5110; Domain of unknown function (DUF5110)

    5. NM_001329223.2 → NP_001316152.1  neutral alpha-glucosidase AB isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      Consensus CDS
      CCDS60817.1
      UniProtKB/TrEMBL
      B4DSM6, F5H6X6
      Conserved Domains (3) summary
      cd06603
      Location:287 → 754
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:147 → 287
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam17137
      Location:730 → 799
      DUF5110; Domain of unknown function (DUF5110)

    6. NM_001329224.2 → NP_001316153.1  neutral alpha-glucosidase AB isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      UniProtKB/TrEMBL
      B4DIW2

    7. NM_001329225.2 → NP_001316154.1  neutral alpha-glucosidase AB isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001458, EU794613
      UniProtKB/TrEMBL
      B4DIW2

    8. NM_198334.3 → NP_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
      A6NC20, Q14697, Q8WTS9, Q9P0X0
      UniProtKB/TrEMBL
      B4DJ30, V9HWJ0
      Related
      ENSP00000349053.3, ENST00000356638.8
      Conserved Domains (3) summary
      cd06603
      Location:384 → 851
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:244 → 384
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:365 → 810
      Glyco_hydro_31; Glycosyl hydrolases family 31

    9. NM_198335.4 → NP_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/TrEMBL
      B4DJ30
      Related
      ENSP00000340466.4, ENST00000346178.8
      Conserved Domains (3) summary
      cd06603
      Location:406 → 873
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:266 → 406
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam17137
      Location:849 → 918
      DUF5110; Domain of unknown function (DUF5110)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047426649.1 → XP_047282605.1  neutral alpha-glucosidase AB isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62614283..62636065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368189.1 → XP_054224164.1  neutral alpha-glucosidase AB isoform X1

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14697.3 GenPept UniProtKB/Swiss-Prot:Q14697

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