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    DRAM1 DNA damage regulated autophagy modulator 1 [ Homo sapiens (human) ]

    Gene ID: 55332, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DRAM1provided by HGNC
    Official Full Name
    DNA damage regulated autophagy modulator 1provided by HGNC
    Primary source
    HGNC:HGNC:25645
    See related
    Ensembl:ENSG00000136048 MIM:610776; AllianceGenome:HGNC:25645
    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
    DRAM
    Summary
    This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lung (RPKM 41.9), urinary bladder (RPKM 12.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101877580..101923612)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101838785..101884733)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102271358..102317390)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1183, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:102270762-102271544 and GRCh37_chr12:102271545-102272326 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22782 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:102317122-102318321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6874 Neighboring gene Sharpr-MPRA regulatory region 5561 Neighboring gene ribosomal protein L9 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6876 Neighboring gene uncharacterized LOC107984548 Neighboring gene neudesin neurotrophic factor pseudogene 2

    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
    • 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. DRAM1 plays a tumor suppressor role in clear cell renal cell carcinoma through modulating Akt signaling. Feng Q, et al. Acta Histochem, 2022 Apr. PMID 35299128
    2. DRAM1 deficiency affects the organization and function of the Golgi apparatus. Wei M, et al. Cell Signal, 2019 Nov. PMID 31356858
    3. DRAM1 regulates autophagy and cell proliferation via inhibition of the phosphoinositide 3-kinase-Akt-mTOR-ribosomal protein S6 pathway. Lu T, et al. Cell Commun Signal, 2019 Mar 22. PMID 30902093, Free PMC Article
    4. Increased expression of DRAM1 confers myocardial protection against ischemia via restoring autophagy flux. Wu X, et al. J Mol Cell Cardiol, 2018 Nov. PMID 30144448
    5. Phosphorylated AKT inhibits the apoptosis induced by DRAM-mediated mitophagy in hepatocellular carcinoma by preventing the translocation of DRAM to mitochondria. Liu K, et al. Cell Death Dis, 2014 Feb 20. PMID 24556693, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
      Title: ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
    2. DRAM1 plays a tumor suppressor role in clear cell renal cell carcinoma through modulating Akt signaling.
      Title: DRAM1 plays a tumor suppressor role in clear cell renal cell carcinoma through modulating Akt signaling.
    3. DNA Damage-Regulated Autophagy Modulator 1 (DRAM1) Mediates Autophagy and Apoptosis of Intestinal Epithelial Cells in Inflammatory Bowel Disease.
      Title: DNA Damage-Regulated Autophagy Modulator 1 (DRAM1) Mediates Autophagy and Apoptosis of Intestinal Epithelial Cells in Inflammatory Bowel Disease.
    4. DRAM1 plays a tumor suppressor role in NSCLC cells by promoting lysosomal degradation of EGFR.
      Title: DRAM1 plays a tumor suppressor role in NSCLC cells by promoting lysosomal degradation of EGFR.
    5. DRAM1 deficiency affects the organization and function of the Golgi apparatus.
      Title: DRAM1 deficiency affects the organization and function of the Golgi apparatus.
    6. The expression of serum DRAM1 messenger RNA (mRNA), ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 were positive in 78.3%, 90%, 85%, and 83.3% of MPM patients, respectively.
      Title: Clinical significance of serum DRAM1 mRNA, ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 axis expression in malignant pleural mesothelioma.
    7. DRAM-1 binds the membrane carrier protein SCAMP3 and the amino acid transporters SLC1A5 and LAT1, directing them to lysosomes and permitting efficient mTORC1 activation.
      Title: mTORC1 Activation Requires DRAM-1 by Facilitating Lysosomal Amino Acid Efflux.
    8. Our results indicated that DRAM1 protected cardiomyocytes from ischemia stress-induced autophagy flux obstacle and uncovered a novel DRAM1-Atg7-Atg12/Atg5 autophagy flux regulation pathway under conditions of myocardial ischemic stress.
      Title: Increased expression of DRAM1 confers myocardial protection against ischemia via restoring autophagy flux.
    9. these results identify that the class I PI3K-Akt-rpS6 pathway is regulated by DRAM1 and may provide new insight into the potential role of DRAM1 in human cancers.
      Title: DRAM1 regulates autophagy and cell proliferation via inhibition of the phosphoinositide 3-kinase-Akt-mTOR-ribosomal protein S6 pathway.
    10. Altogether, these findings suggest that in normal/high glucose condition a mutual unbalance between p53-dependent apoptosis (PUMA) and autophagy (DRAM) gene occurred, modifying the ADR-induced cancer cell death in HG both in vitro and in vivo.
      Title: p53-Dependent PUMA to DRAM antagonistic interplay as a key molecular switch in cell-fate decision in normal/high glucose conditions.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    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

    Clone Names

    • FLJ11259

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA damage-regulated autophagy modulator protein 1
    Names
    damage-regulated autophagy modulator

    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_018370.3 → NP_060840.2  DNA damage-regulated autophagy modulator protein 1

      See identical proteins and their annotated locations for NP_060840.2

      Status: REVIEWED

      Source sequence(s)
      AC084398, AI079438, BC018435
      Consensus CDS
      CCDS41823.1
      UniProtKB/Swiss-Prot
      B7Z4T0, Q7L3E3, Q8N682, Q9NUN1
      UniProtKB/TrEMBL
      B3KT44
      Related
      ENSP00000258534.8, ENST00000258534.13
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 224
      Frag1; Frag1/DRAM/Sfk1 family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      101877580..101923612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269004.3 → XP_005269061.1  DNA damage-regulated autophagy modulator protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KT44
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 188
      Frag1; Frag1/DRAM/Sfk1 family

    2. XM_005269005.3 → XP_005269062.1  DNA damage-regulated autophagy modulator protein 1 isoform X3

      Related
      ENSP00000445827.1, ENST00000544152.5
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 146
      Frag1; Frag1/DRAM/Sfk1 family

    3. XM_047429098.1 → XP_047285054.1  DNA damage-regulated autophagy modulator protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      101838785..101884733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372449.1 → XP_054228424.1  DNA damage-regulated autophagy modulator protein 1 isoform X1

    2. XM_054372451.1 → XP_054228426.1  DNA damage-regulated autophagy modulator protein 1 isoform X3

    3. XM_054372450.1 → XP_054228425.1  DNA damage-regulated autophagy modulator protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N682.1 GenPept UniProtKB/Swiss-Prot:Q8N682

    Gene LinkOut

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

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