U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 10397, updated on 7-Apr-2024

    Summary

    Official Symbol
    NDRG1provided by HGNC
    Official Full Name
    N-myc downstream regulated 1provided by HGNC
    Primary source
    HGNC:HGNC:7679
    See related
    Ensembl:ENSG00000104419 MIM:605262; AllianceGenome:HGNC:7679
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 143.2), kidney (RPKM 118.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8q24.22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (133237175..133297252, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (134361278..134421339, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (134249418..134309495, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375769 Neighboring gene NANOG hESC enhancer GRCh37_chr8:134157066-134157567 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:134204154-134204401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134208271-134208770 Neighboring gene uncharacterized LOC102723635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19560 Neighboring gene cellular communication network factor 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134229946-134231145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134234981-134235482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27993 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134272289-134272788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134277906-134278406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134297442-134297942 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134305980-134307179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19562 Neighboring gene ribosomal protein L32 pseudogene 20 Neighboring gene uncharacterized LOC105375771 Neighboring gene uncharacterized LOC105375772

    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

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 4D
    MedGen: C1832334 OMIM: 601455 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mast cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system myelin maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to metal ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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.

    Genomic

    1. NG_007943.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001135242.2NP_001128714.1  protein NDRG1 isoform 1

      See identical proteins and their annotated locations for NP_001128714.1

      Status: REVIEWED

      Source sequence(s)
      AF004162, AF192304, AK126924, D87953
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      B3KR80, B7Z446, O15207, Q6IBG2, Q92597, Q9NYR6, Q9UK29
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Related
      ENSP00000404854.2, ENST00000414097.6
      Conserved Domains (1) summary
      pfam03096
      Location:34316
      Ndr; Ndr family
    2. NM_001258432.2NP_001245361.1  protein NDRG1 isoform 2

      See identical proteins and their annotated locations for NP_001245361.1

      Status: REVIEWED

      Source sequence(s)
      AK095649, AK296794
      Consensus CDS
      CCDS59113.1
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Related
      ENSP00000427894.1, ENST00000522476.5
      Conserved Domains (1) summary
      pfam03096
      Location:1250
      Ndr; Ndr family
    3. NM_001258433.2NP_001245362.1  protein NDRG1 isoform 3

      See identical proteins and their annotated locations for NP_001245362.1

      Status: REVIEWED

      Source sequence(s)
      AF192304, KC877358, KC877360
      Conserved Domains (2) summary
      pfam03096
      Location:1235
      Ndr; Ndr family
      TIGR01738
      Location:1228
      bioH; pimelyl-[acyl-carrier protein] methyl ester esterase
    4. NM_001374844.1NP_001361773.1  protein NDRG1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AF192304, KC877358, KC877360
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Conserved Domains (1) summary
      pfam03096
      Location:34333
      Ndr; Ndr family
    5. NM_001374845.1NP_001361774.1  protein NDRG1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AF192304, KC877358, KC877360
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      B3KR80, B7Z446, O15207, Q6IBG2, Q92597, Q9NYR6, Q9UK29
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Conserved Domains (1) summary
      pfam03096
      Location:34316
      Ndr; Ndr family
    6. NM_001374846.1NP_001361775.1  protein NDRG1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AF192304, KC877358, KC877360
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      B3KR80, B7Z446, O15207, Q6IBG2, Q92597, Q9NYR6, Q9UK29
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Related
      ENSP00000437443.2, ENST00000537882.3
      Conserved Domains (1) summary
      pfam03096
      Location:34316
      Ndr; Ndr family
    7. NM_001374847.1NP_001361776.1  protein NDRG1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AF192304, KC877358, KC877360
      Consensus CDS
      CCDS59113.1
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Conserved Domains (1) summary
      pfam03096
      Location:1250
      Ndr; Ndr family
    8. NM_006096.4NP_006087.2  protein NDRG1 isoform 1

      See identical proteins and their annotated locations for NP_006087.2

      Status: REVIEWED

      Source sequence(s)
      AF004162, BC003175, D87953, DC353531
      Consensus CDS
      CCDS34945.1
      UniProtKB/Swiss-Prot
      B3KR80, B7Z446, O15207, Q6IBG2, Q92597, Q9NYR6, Q9UK29
      UniProtKB/TrEMBL
      Q53EU7, Q597H1
      Related
      ENSP00000319977.8, ENST00000323851.13
      Conserved Domains (1) summary
      pfam03096
      Location:34316
      Ndr; Ndr 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      133237175..133297252 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      134361278..134421339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)