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

Gene ID: 2595, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:4139
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
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Genomic context

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See GANC in Genome Data Viewer
Location:
15q15.1
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42273201..42353666)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40079234..40159701)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42565399..42645864)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene VPS39 subunit of HOPS complex Neighboring gene microRNA 627 Neighboring gene VPS39 divergent transcript Neighboring gene transmembrane protein 87A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9298 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:42565593-42566792 Neighboring gene BCL2 interacting protein 3 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42652107-42652607 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:42655654-42656620 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42676684-42677239 Neighboring gene uncharacterized LOC105370794 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:42677734-42678933 Neighboring gene calpain 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9300 Neighboring gene zinc finger protein 106 Neighboring gene RNA, U6 small nuclear 188, pseudogene

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. Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese men. Qiu Z, et al. Andrologia, 2018 Apr. PMID 29282757
  2. Neutral alpha-1,4-glucosidase and fructose levels contribute to discriminating obstructive and nonobstructive azoospermia in Chinese men with azoospermia. Lei B, et al. Andrologia, 2016 Aug. PMID 26610429
  3. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. Oba-Shinjo SM, et al. J Neurol, 2009 Nov. PMID 19588081
  4. Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31. Hirschhorn R, et al. Proc Natl Acad Sci U S A, 2002 Oct 15. PMID 12370436, Free PMC Article
  5. Activity levels and properties of acid alpha-glucosidase from liver and neutral alpha-glucosidase from sera of cystic fibrosis patients and controls. Alhadeff JA, et al. Clin Chim Acta, 1981 Dec 9. PMID 7030525

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results showed that the level of NAG in normal men was significantly higher than that in subfertile and infertile men. Meanwhile, the level of NAG in subfertile men was significantly greater than that in infertile men
    Title: Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese men.
  2. our results indicated that neutral alpha glucosidase and fructose levels are contributed to discriminating obstructive and nonobstructive azoospermia in Chinese patients based on the histological types of testes.
    Title: Neutral alpha-1,4-glucosidase and fructose levels contribute to discriminating obstructive and nonobstructive azoospermia in Chinese men with azoospermia.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  4. Analysis of Brazilian Pompe patients showed that sometimes the nature of the mutation (alpha-Glucosidases )matched the phenotype within this group.
    Title: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
  5. in silico and physical cloning of two alleles of human neutral alpha-glucosidase (designated GANC on the human gene map)
    Title: Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
  6. Reports the mapping of a 2-Mb interval on human chromosome 15q15 that contains 15 genes linked to congenital dyserythropoietic anemia type 1 (CDAI).
    Title: Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Submit: New GeneRIF Correction

Phenotypes

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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 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CAPN3

Homology

Clone Names

  • FLJ40082, MGC138256

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-1,4-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-1,4-glucosidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables maltose alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maltose metabolic process IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neutral alpha-glucosidase C
NP_001288338.1
NP_001288339.1
NP_001380857.1
NP_001380858.1
NP_001380859.1
NP_001380860.1
NP_001380861.1
NP_001380862.1
NP_937784.2

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.

mRNA and Protein(s)

  1. NM_001301409.2 → NP_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:213 → 352
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

  2. NM_001301410.2 → NP_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

  3. NM_001393928.1 → NP_001380857.1  neutral alpha-glucosidase C isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC012651, AC022468
    Consensus CDS
    CCDS10084.1
    UniProtKB/Swiss-Prot
    Q52LQ4, Q8IWZ0, Q8IZM4, Q8IZM5, Q8TET4
    UniProtKB/TrEMBL
    Q2M2A3
    Conserved Domains (2) summary
    cd06603
    Location:353 → 820
    GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
    cd14752
    Location:213 → 353
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

  4. NM_001393929.1 → NP_001380858.1  neutral alpha-glucosidase C isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC012651, AC022468
    Consensus CDS
    CCDS10084.1
    UniProtKB/Swiss-Prot
    Q52LQ4, Q8IWZ0, Q8IZM4, Q8IZM5, Q8TET4
    UniProtKB/TrEMBL
    Q2M2A3
    Conserved Domains (2) summary
    cd06603
    Location:353 → 820
    GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
    cd14752
    Location:213 → 353
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

  5. NM_001393930.1 → NP_001380859.1  neutral alpha-glucosidase C isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC022468
    Consensus CDS
    CCDS76737.1
    UniProtKB/TrEMBL
    B4DWC5, E7EWB6

  6. NM_001393931.1 → NP_001380860.1  neutral alpha-glucosidase C isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC022468
    Consensus CDS
    CCDS76737.1
    UniProtKB/TrEMBL
    B4DWC5, E7EWB6
    Related
    ENSP00000399557.2, ENST00000440615.6

  7. NM_001393932.1 → NP_001380861.1  neutral alpha-glucosidase C isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022468

  8. NM_001393933.1 → NP_001380862.1  neutral alpha-glucosidase C isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022468

  9. NM_198141.3 → NP_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)
    AC012651, AC022468
    Consensus CDS
    CCDS10084.1
    UniProtKB/Swiss-Prot
    Q52LQ4, Q8IWZ0, Q8IZM4, Q8IZM5, Q8TET4
    UniProtKB/TrEMBL
    Q2M2A3
    Related
    ENSP00000326227.8, ENST00000318010.13
    Conserved Domains (2) summary
    cd06603
    Location:353 → 820
    GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
    cd14752
    Location:213 → 353
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

RNA

  1. NR_172055.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022468

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    42273201..42353666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    40079234..40159701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TET4.3 GenPept UniProtKB/Swiss-Prot:Q8TET4

Gene LinkOut

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