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

    Gene ID: 2595, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42273201..42353666)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40079234..40159701)
    RS_2024_09 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 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. Alpha-glucoside formation of xenobiotics by rat liver alpha-glucosidases. Kamimura H, et al. Drug Metab Dispos, 1992 Mar-Apr. PMID 1352226
    2. 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
    3. 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
    4. Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15. Martiniuk F, et al. Cytogenet Cell Genet, 1980. PMID 6995030
    5. Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele. Martiniuk F, et al. Am J Hum Genet, 1980 Jul. PMID 6994494, Free PMC Article

    See all (57) 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
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carbohydrate 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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