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

Gene ID: 10397, updated on 12-Aug-2018

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; 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]
Expression
Ubiquitous expression in prostate (RPKM 143.2), kidney (RPKM 118.0) and 24 other tissues See more
Orthologs

Genomic context

See NDRG1 in Genome Data Viewer
Location:
8q24.22
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
cadherin binding 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 
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
 
postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
response to metal ion TAS
Traceable Author Statement
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
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 

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)

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
    ENSP00000404854.2, OTTHUMP00000226723, ENST00000414097.6, OTTHUMT00000378805
    Conserved Domains (1) summary
    pfam03096
    Location:34316
    Ndr; Ndr family
  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
    ENSP00000427894.1, OTTHUMP00000226725, ENST00000522476.5, 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
    ENSP00000437443.1, ENST00000537882.2
    Conserved Domains (2) summary
    pfam03096
    Location:1235
    Ndr; Ndr family
    TIGR01738
    Location:1228
    bioH; pimelyl-[acyl-carrier protein] methyl ester esterase
  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
    ENSP00000319977.7, OTTHUMP00000226721, ENST00000323851.11, OTTHUMT00000378799
    Conserved Domains (1) summary
    pfam03096
    Location:34316
    Ndr; Ndr family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516791.1XP_011515093.1  protein NDRG1 isoform X1

    Conserved Domains (2) summary
    COG0596
    Location:88328
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam03096
    Location:34333
    Ndr; Ndr family
  2. XM_011516792.2XP_011515094.1  protein NDRG1 isoform X2

    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
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