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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
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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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