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    ALDOA aldolase, fructose-bisphosphate A [ Homo sapiens (human) ]

    Gene ID: 226, updated on 9-Jun-2024

    Summary

    Official Symbol
    ALDOAprovided by HGNC
    Official Full Name
    aldolase, fructose-bisphosphate Aprovided by HGNC
    Primary source
    HGNC:HGNC:414
    See related
    Ensembl:ENSG00000149925 MIM:103850; AllianceGenome:HGNC:414
    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
    ALDA; GSD12; HEL-S-87p
    Summary
    This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
    Expression
    Ubiquitous expression in heart (RPKM 290.3), esophagus (RPKM 221.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ALDOA in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30064279..30070420)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30346925..30353065)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30075600..30081741)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7347 Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30039801-30040645 Neighboring gene TLC domain containing 3B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7348 Neighboring gene MPRA-validated peak2562 silencer Neighboring gene uncharaterized LOC112694756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30064875-30065853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30065854-30066831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30076132-30076912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10689 Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30096821-30096985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30101709-30102582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7352 Neighboring gene T-box transcription factor 6

    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?

    Phenotypes

    Associated conditions

    Description Tests
    HNSHA due to aldolase A deficiency
    MedGen: C0272066 OMIM: 611881 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of aldolase A (ALDOA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human aldolase A, fructose-bisphosphate (ALDOA) at amino acid residues 32-33 by the HIV-1 protease 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

    Clone Names

    • MGC10942, MGC17716, MGC17767

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ATP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin filament organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in binding of sperm to zona pellucida IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fructose 1,6-bisphosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fructose 1,6-bisphosphate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fructose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycolytic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    fructose-bisphosphate aldolase A
    Names
    aldolase A, fructose-bisphosphate
    epididymis secretory sperm binding protein Li 87p
    fructose-1,6-bisphosphate triosephosphate-lyase
    lung cancer antigen NY-LU-1
    muscle-type aldolase
    NP_001121089.1
    NP_001230106.1
    NP_908930.1
    NP_908932.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008010.1 RefSeqGene

      Range
      17591..22245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1180

    mRNA and Protein(s)

    1. NM_001127617.2NP_001121089.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_001121089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 2, 3, 4, 7, 8, 9, and 10 encode the same isoform (1).
      Source sequence(s)
      BU855133, BX647566, DA899482
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
      UniProtKB/TrEMBL
      J3KPS3, V9HWN7
      Related
      ENSP00000400452.2, ENST00000412304.6
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    2. NM_001243177.4NP_001230106.1  fructose-bisphosphate aldolase A isoform 2

      See identical proteins and their annotated locations for NP_001230106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) is longer at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC093512, AK301993, DA138954
      Consensus CDS
      CCDS58450.1
      UniProtKB/TrEMBL
      J3KPS3
      Related
      ENSP00000496166.1, ENST00000642816.3
      Conserved Domains (1) summary
      pfam00274
      Location:69418
      Glycolytic; Fructose-bisphosphate aldolase class-I
    3. NM_184041.5NP_908930.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_908930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      BC010660, DA138954
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
      UniProtKB/TrEMBL
      J3KPS3, V9HWN7
      Related
      ENSP00000494188.2, ENST00000643777.4
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    4. NM_184043.2NP_908932.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_908932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 2, 3, 4, 7, 8, 9, and 10 encode the same isoform (1).
      Source sequence(s)
      BC013614, BU855133, CB151262, DA564075
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
      UniProtKB/TrEMBL
      J3KPS3, V9HWN7
      Related
      ENSP00000455800.2, ENST00000563060.6
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30064279..30070420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30346925..30353065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000034.3: Suppressed sequence

      Description
      NM_000034.3: This RefSeq was removed because the transcript represents a separate adjacent gene.
    2. NM_001243175.1: Suppressed sequence

      Description
      NM_001243175.1: This RefSeq was permanently suppressed because it contains an upstream ORF that renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    3. NM_001355562.1: Suppressed sequence

      Description
      NM_001355562.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
    4. NM_001355563.1: Suppressed sequence

      Description
      NM_001355563.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
    5. NM_001355564.1: Suppressed sequence

      Description
      NM_001355564.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
    6. NM_001355565.1: Suppressed sequence

      Description
      NM_001355565.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.