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    DERA deoxyribose-phosphate aldolase [ Homo sapiens (human) ]

    Gene ID: 51071, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DERAprovided by HGNC
    Official Full Name
    deoxyribose-phosphate aldolaseprovided by HGNC
    Primary source
    HGNC:HGNC:24269
    See related
    Ensembl:ENSG00000023697 MIM:619668; AllianceGenome:HGNC:24269
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEOC; CGI-26
    Summary
    Enables deoxyribose-phosphate aldolase activity. Involved in deoxyribonucleoside catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 26.2), kidney (RPKM 24.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DERA in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (15911332..16037381)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (15788590..15914666)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (16064266..16190315)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724146 Neighboring gene Sharpr-MPRA regulatory region 5867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:16063956-16064700 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:16064701-16065444 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:16069411-16069624 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:16089367-16090566 Neighboring gene MPRA-validated peak1581 silencer Neighboring gene serine/threonine kinase receptor associated protein Neighboring gene VISTA enhancer hs798 Neighboring gene egl-9 family hypoxia-inducible factor 3 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3277 Neighboring gene uncharacterized LOC101928362 Neighboring gene solute carrier family 15 member 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:16499669-16500598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:16501529-16502458 Neighboring gene Sharpr-MPRA regulatory region 9686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:16535292-16535885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:16535886-16536478 Neighboring gene microsomal glutathione S-transferase 1 Neighboring gene SPT16 homolog, facilitates chromatin remodeling subunit pseudogene 1

    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. DERA is the human deoxyribose phosphate aldolase and is involved in stress response. Salleron L, et al. Biochim Biophys Acta, 2014 Dec. PMID 25229427
    2. Channelling of deoxyribose moiety of exogenous DNA into carbohydrate metabolism: role of deoxyriboaldolase. Sgarrella F, et al. Comp Biochem Physiol B Biochem Mol Biol, 1997 Jun. PMID 9226884
    3. Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival. Gu N, et al. Eur J Cancer, 2020 Sep. PMID 32659474, Free PMC Article
    4. A case of pericytic neoplasm in the shoulder with a novel DERA-GLI1 gene fusion. Nitta Y, et al. Histopathology, 2021 Feb. PMID 33067875
    5. Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. Hoffmann TJ, et al. Hum Mol Genet, 2014 Dec 15. PMID 25027321, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A case of pericytic neoplasm in the shoulder with a novel DERA-GLI1 gene fusion.
      Title: A case of pericytic neoplasm in the shoulder with a novel DERA-GLI1 gene fusion.
    2. Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival.
      Title: Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
    EBI GWAS Catalog

    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 deoxyribose-phosphate aldolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables deoxyribose-phosphate aldolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deoxyribose-phosphate aldolase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in deoxyribonucleoside catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in deoxyribonucleotide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in deoxyribose phosphate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    deoxyribose-phosphate aldolase
    Names
    2-deoxy-D-ribose 5-phosphate aldolase
    2-deoxyribose-5-phosphate aldolase homolog
    deoxyriboaldolase
    deoxyribose-phosphate aldolase (putative)
    phosphodeoxyriboaldolase
    putative deoxyribose-phosphate aldolase
    NP_001287708.1
    NP_057038.2
    XP_024304769.1

    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_001300779.2 → NP_001287708.1  deoxyribose-phosphate aldolase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC022073, BC041328, BU928832, CB851336
      Consensus CDS
      CCDS73451.1
      UniProtKB/TrEMBL
      E9PPM8
      Related
      ENSP00000436999.1, ENST00000532964.5
      Conserved Domains (1) summary
      cl21457
      Location:50 → 234
      TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

    2. NM_015954.4 → NP_057038.2  deoxyribose-phosphate aldolase isoform 1

      See identical proteins and their annotated locations for NP_057038.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC041328, CB851336
      Consensus CDS
      CCDS44838.1
      UniProtKB/Swiss-Prot
      Q53HN9, Q6PHW2, Q9Y315
      Related
      ENSP00000416583.2, ENST00000428559.7
      Conserved Domains (1) summary
      cd00959
      Location:50 → 277
      DeoC; 2-deoxyribose-5-phosphate aldolase (DERA) of the DeoC family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      15911332..16037381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449001.2 → XP_024304769.1  deoxyribose-phosphate aldolase isoform X1

      UniProtKB/TrEMBL
      G3V158
      Related
      ENSP00000431757.1, ENST00000526530.1
      Conserved Domains (1) summary
      cd00959
      Location:8 → 189
      DeoC; 2-deoxyribose-5-phosphate aldolase (DERA) of the DeoC family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      15788590..15914666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y315.2 GenPept UniProtKB/Swiss-Prot:Q9Y315

    Gene LinkOut

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

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