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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See DRAM1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101877580..101923612)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101838785..101884733)
    RS_2024_09 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

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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.

    mRNA and Protein(s)

    1. NM_018370.3NP_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:7224
      Frag1; Frag1/DRAM/Sfk1 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
      101877580..101923612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      B3KT44
      Conserved Domains (1) summary
      pfam10277
      Location:7188
      Frag1; Frag1/DRAM/Sfk1 family
    2. XM_005269005.3XP_005269062.1  DNA damage-regulated autophagy modulator protein 1 isoform X3

      Related
      ENSP00000445827.1, ENST00000544152.5
      Conserved Domains (1) summary
      pfam10277
      Location:7146
      Frag1; Frag1/DRAM/Sfk1 family
    3. XM_047429098.1XP_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_054372449.1XP_054228424.1  DNA damage-regulated autophagy modulator protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KT44
    2. XM_054372451.1XP_054228426.1  DNA damage-regulated autophagy modulator protein 1 isoform X3

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