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GANC glucosidase alpha, neutral C [ Homo sapiens (human) ]

Gene ID: 2595, updated on 12-Oct-2019

Summary

Official Symbol
GANCprovided by HGNC
Official Full Name
glucosidase alpha, neutral Cprovided by HGNC
Primary source
HGNC:HGNC:4139
See related
Ensembl:ENSG00000214013 MIM:104180
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
Summary
Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]
Expression
Ubiquitous expression in lung (RPKM 6.2), testis (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See GANC in Genome Data Viewer
Location:
15q15.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (42273658..42353666)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42566366..42646599)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene VPS39 subunit of HOPS complex Neighboring gene uncharacterized LOC105370795 Neighboring gene microRNA 627 Neighboring gene transmembrane protein 87A Neighboring gene BCL2 interacting protein 3 pseudogene 5 Neighboring gene uncharacterized LOC105370794 Neighboring gene calpain 3 Neighboring gene zinc finger protein 106 Neighboring gene RNA, U6 small nuclear 188, pseudogene

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 C (GANC) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 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 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CAPN3

Homology

Clone Names

  • FLJ40082, MGC138256

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,4-glucosidase activity NAS
Non-traceable Author Statement
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
maltose alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
maltose metabolic process IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neutral alpha-glucosidase C
NP_001288338.1
NP_001288339.1
NP_937784.2

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.

mRNA and Protein(s)

  1. NM_001301409.1NP_001288338.1  neutral alpha-glucosidase C isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons in the 3' coding region, and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter, and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC022468, AK074330
    Consensus CDS
    CCDS76738.1
    UniProtKB/TrEMBL
    H3BN99
    Related
    ENSP00000454747.1, ENST00000566442.5
    Conserved Domains (1) summary
    cd14752
    Location:213352
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
  2. NM_001301410.1NP_001288339.1  neutral alpha-glucosidase C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons in the 3' coding region, and contains an alternate 3' structure, compared to variant 1. It encodes isoform 3 which is shorter, and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC022468, AK074330, AK301467, HY309614
    Consensus CDS
    CCDS76737.1
    UniProtKB/TrEMBL
    B4DWC5, E7EWB6
    Related
    ENSP00000399557.2, ENST00000440615.6
  3. NM_198141.2NP_937784.2  neutral alpha-glucosidase C isoform 1

    See identical proteins and their annotated locations for NP_937784.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC022468, BC059406, BE893238, BM999150, BQ000944
    Consensus CDS
    CCDS10084.1
    UniProtKB/Swiss-Prot
    Q8TET4
    Related
    ENSP00000326227.8, ENST00000318010.12
    Conserved Domains (3) summary
    cd06603
    Location:353820
    GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
    cd14752
    Location:213353
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:334779
    Glyco_hydro_31; Glycosyl hydrolases family 31

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    42273658..42353666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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