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

Gene ID: 23193, updated on 5-Jul-2020

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

Genomic context

See GANAB in Genome Data Viewer
Location:
11q12.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62624826..62646726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62392298..62414198, 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
RNA binding HDA PubMed 
alpha-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
glucan 1,3-alpha-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
protein folding TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
glucosidase II complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
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)

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_001278194.1NP_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)
    AA618561, 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_001329222.1NP_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_001329224.1NP_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.

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
    62624826..62646726 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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