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

Gene ID: 51071, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in small intestine (RPKM 26.2), kidney (RPKM 24.6) and 25 other tissues See more
Orthologs
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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

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