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    AKR7A2 aldo-keto reductase family 7 member A2 [ Homo sapiens (human) ]

    Gene ID: 8574, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AKR7A2provided by HGNC
    Official Full Name
    aldo-keto reductase family 7 member A2provided by HGNC
    Primary source
    HGNC:HGNC:389
    See related
    Ensembl:ENSG00000053371 MIM:603418; AllianceGenome:HGNC:389
    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
    AFAR; AKR7; AFAR1; AFB1-AR1
    Summary
    The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 26.6), duodenum (RPKM 20.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See AKR7A2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19302708..19312146, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19126242..19135681, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19629202..19638640, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19610121-19610996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19614497-19615319 Neighboring gene uncharacterized LOC124903867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19615320-19616141 Neighboring gene aldo-keto reductase family 7 member A3 Neighboring gene uncharacterized LOC100506730 Neighboring gene RNA, U6 small nuclear 1099, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19638229-19638728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19641943-19642442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19644916-19645106 Neighboring gene solute carrier family 66 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661163-19661664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661665-19662164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19663848-19664812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19665979-19666480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19667246-19668220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 299 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19679737-19680421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682496-19682996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682997-19683497 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19685462-19685962 Neighboring gene capping actin protein of muscle Z-line subunit beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19696541-19697233 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 301 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:19727675-19728354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19729033-19729710 Neighboring gene uncharacterized LOC124903868

    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. Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells. Praml C, et al. Cancer Lett, 2008 Dec 8. PMID 18752886
    2. Cloning of the human aflatoxin B1-aldehyde reductase gene at 1p35-1p36.1 in a region frequently altered in human tumor cells. Praml C, et al. Cancer Res, 1998 Nov 15. PMID 9823300
    3. Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: role of the aldo-keto reductase AKR7A2. Lyon RC, et al. J Biol Chem, 2007 Sep 7. PMID 17591773
    4. Insights into the transcriptional regulation of the anthracycline reductase AKR7A2 in human cardiomyocytes. Quiñones-Lombraña A, et al. Toxicol Lett, 2019 Jun 1. PMID 30817976, Free PMC Article
    5. GST-M1 is transcribed moreso than AKR7A2 in AFB₁-exposed human monocytes and lymphocytes. Bahari A, et al. J Immunotoxicol, 2015 Apr-Jun. PMID 25027672

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. expression in cardiomyocytes is mediated by NF-kappaB through conserved response elements in the proximal gene promoter region
      Title: Insights into the transcriptional regulation of the anthracycline reductase AKR7A2 in human cardiomyocytes.
    2. AKR7A2 physically interacts with CYGB.
      Title: The identification of human aldo-keto reductase AKR7A2 as a novel cytoglobin-binding partner.
    3. induced expression in human monocytes following exposure to Aflatoxin B1
      Title: GST-M1 is transcribed moreso than AKR7A2 in AFB₁-exposed human monocytes and lymphocytes.
    4. AKR7A2 contributes to protection against MG-induced toxicity.
      Title: Nrf2-mediated adaptive response to methyl glyoxal in HepG2 cells involves the induction of AKR7A2.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
    6. The human AFAR gene family maps to a genomic region in 1p36 of frequent hemizygous deletions in various human cancers.
      Title: Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells.
    7. Aflatoxin B(1) aldehyde reductase (AKR7A2) was confirmed to be only highly expressed in pancreatic cancer, not in normal adjacent pancreas and benign tumors.
      Title: Proteomic analysis of pancreatic ductal adenocarcinoma compared with normal adjacent pancreatic tissue and pancreatic benign cystadenoma.
    8. The human aldo-keto reductase AKR7A2 has been proposed previously to catalyze the NADPH-dependent reduction of succinic semialdehyde (SSA) to gamma-Hydroxybutyrate in human brain
      Title: Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: role of the aldo-keto reductase AKR7A2.
    9. structure and tissue-related expression of AFAR genes on chromosome 1
      Title: Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aldo-keto reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldose reductase (NADPH) activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables phenanthrene-9,10-epoxide hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular aldehyde metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in daunorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in doxorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    aflatoxin B1 aldehyde reductase member 2
    Names
    AFB1 aldehyde reductase 1
    AFB1-AR 1
    HEL-S-166mP
    SSA reductase
    aflatoxin aldehyde reductase
    aflatoxin beta1 aldehyde reductase
    aldoketoreductase 7
    epididymis secretory sperm binding protein Li 166mP
    succinic semialdehyde reductase
    NP_001307908.1
    NP_003680.2
    XP_047289051.1
    XP_054195323.1

    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_001320979.1 → NP_001307908.1  aflatoxin B1 aldehyde reductase member 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK303131, AL035413, BG386786, BX401279
      UniProtKB/TrEMBL
      H3BLU7
      Related
      ENSP00000339084.5, ENST00000330072.10
      Conserved Domains (2) summary
      cd06660
      Location:26 → 311
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
      COG0667
      Location:42 → 320
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    2. NM_003689.4 → NP_003680.2  aflatoxin B1 aldehyde reductase member 2 isoform 1

      See identical proteins and their annotated locations for NP_003680.2

      Status: REVIEWED

      Source sequence(s)
      AL035413
      Consensus CDS
      CCDS194.1
      UniProtKB/Swiss-Prot
      O43488, O75749, Q5TG63
      UniProtKB/TrEMBL
      H3BLU7, V9HWA2
      Related
      ENSP00000235835.3, ENST00000235835.8
      Conserved Domains (2) summary
      cd06660
      Location:26 → 346
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
      COG0667
      Location:42 → 355
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      19302708..19312146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433095.1 → XP_047289051.1  aflatoxin B1 aldehyde reductase member 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      19126242..19135681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339348.1 → XP_054195323.1  aflatoxin B1 aldehyde reductase member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43488.3 GenPept UniProtKB/Swiss-Prot:O43488

    Gene LinkOut

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

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