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    NDRG1 N-myc downstream regulated 1 [ Homo sapiens (human) ]

    Gene ID: 10397, updated on 22-Aug-2016
    Official Symbol
    NDRG1provided by HGNC
    Official Full Name
    N-myc downstream regulated 1provided by HGNC
    Primary source
    HGNC:HGNC:7679
    See related
    Ensembl:ENSG00000104419 HPRD:05586; MIM:605262; Vega:OTTHUMG00000164441
    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
    GC4; RTP; DRG1; NDR1; NMSL; TDD5; CAP43; CMT4D; DRG-1; HMSNL; RIT42; TARG1; PROXY1
    Summary
    This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
    Orthologs
    Location:
    8q24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (133237171..133297587, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (134249414..134309835, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375769 Neighboring gene uncharacterized LOC102723635 Neighboring gene WNT1 inducible signaling pathway protein 1 Neighboring gene ribosomal protein L32 pseudogene 20 Neighboring gene uncharacterized LOC105375771 Neighboring gene uncharacterized LOC105375772

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease, type 4D Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Two related serine-threonine kinases, nuclear Dbf2 related 1 (NDR1) and NDR2, are incorporated into HIV-1 particles and are cleaved by the HIV-1 protease (PR), both within virions and within producer cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    mast cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    peripheral nervous system myelin maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of spindle checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    response to metal ion TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein NDRG1
    Names
    N-myc downstream-regulated gene 1 protein
    differentiation-related gene 1 protein
    nickel-specific induction protein Cap43
    protein regulated by oxygen-1
    reducing agents and tunicamycin-responsive protein

    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.

    Genomic

    1. NG_007943.1 RefSeqGene

      Range
      4952..65085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_258

    mRNA and Protein(s)

    1. NM_001135242.1NP_001128714.1  protein NDRG1 isoform 1

      See identical proteins and their annotated locations for NP_001128714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF004162, AF192304, AK126924, D87953
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      Q92597
      Related
      ENSP00000404854, OTTHUMP00000226723, ENST00000414097, OTTHUMT00000378805
      Conserved Domains (2) summary
      pfam03096
      Location:34316
      Ndr; Ndr family
      TIGR01738
      Location:52309
      bioH; pimelyl-[acyl-carrier protein] methyl ester esterase
    2. NM_001258432.1NP_001245361.1  protein NDRG1 isoform 2

      See identical proteins and their annotated locations for NP_001245361.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two consecutive internal exons and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK095649, AK296794, D87953, DC353531
      Consensus CDS
      CCDS59113.1
      UniProtKB/Swiss-Prot
      Q92597
      UniProtKB/TrEMBL
      Q8N959
      Related
      ENSP00000427894, OTTHUMP00000226725, ENST00000522476, OTTHUMT00000378807
      Conserved Domains (2) summary
      pfam03096
      Location:1250
      Ndr; Ndr family
      TIGR01738
      Location:16243
      bioH; pimelyl-[acyl-carrier protein] methyl ester esterase
    3. NM_001258433.1NP_001245362.1  protein NDRG1 isoform 3

      See identical proteins and their annotated locations for NP_001245362.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091147, AK095649, D87953, DC343351
      Consensus CDS
      CCDS59112.1
      UniProtKB/Swiss-Prot
      Q92597
      UniProtKB/TrEMBL
      Q8N959
      Related
      ENSP00000437443, ENST00000537882
      Conserved Domains (1) summary
      pfam12697
      Location:1223
      Abhydrolase_6; Alpha/beta hydrolase family
    4. NM_006096.3NP_006087.2  protein NDRG1 isoform 1

      See identical proteins and their annotated locations for NP_006087.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF004162, BC003175, D87953, DC353531
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      Q92597
      Related
      ENSP00000319977, OTTHUMP00000226721, ENST00000323851, OTTHUMT00000378799
      Conserved Domains (2) summary
      pfam03096
      Location:34316
      Ndr; Ndr family
      TIGR01738
      Location:52309
      bioH; pimelyl-[acyl-carrier protein] methyl ester esterase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      133237171..133297587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516791.1XP_011515093.1  

      Conserved Domains (1) summary
      pfam03096
      Location:34333
      Ndr; Ndr family
    2. XM_011516792.1XP_011515094.1  

      See identical proteins and their annotated locations for XP_011515094.1

      UniProtKB/TrEMBL
      B3KWB2
      Conserved Domains (1) summary
      cl21494
      Location:1127
      Abhydrolase; alpha/beta hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      134290434..134350564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)