InnateDB Protein
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IDBP-36422.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NDRG1
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Protein Name
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N-myc downstream regulated 1
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Synonyms
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CAP43; CMT4D; DRG-1; DRG1; GC4; HMSNL; NDR1; NMSL; PROXY1; RIT42; RTP; TARG1; TDD5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000319977
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InnateDB Gene
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IDBG-36420 (NDRG1)
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Protein Structure
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Function |
Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53- mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy. {ECO:0000269PubMed:15247272, ECO:0000269PubMed:15377670, ECO:0000269PubMed:17786215, ECO:0000269PubMed:9766676}.
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Subcellular Localization |
Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cell membrane. Note=Mainly cytoplasmic but differentially localized to other regions. Associates with the plasma membrane in intestinal epithelia and lactating mammary gland. Translocated to the nucleus in a p53/TP53-dependent manner. In prostate epithelium and placental chorion, located in both the cytoplasm and in the nucleus. No nuclear localization in colon epithelium cells. In intestinal mucosa, prostate and renal cortex, located predominantly adjacent to adherens junctions. Cytoplasmic with granular staining in proximal tubular cells of the kidney and salivary gland ducts. Recruits to the membrane of recycling/sorting and late endosomes via binding to phosphatidylinositol 4-phosphate. Associates with microtubules. Colocalizes with TUBG1 in the centrosome. Cytoplasmic location increased with hypoxia. Phosphorylated form found associated with centromeres during S-phase of mitosis and with the plasma membrane.
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Disease Associations |
Charcot-Marie-Tooth disease 4D (CMT4D) [MIM:601455]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269PubMed:10831399}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous; expressed most prominently in placental membranes and prostate, kidney, small intestine, and ovary tissues. Also expressed in heart, brain, skeletal muscle, lung, liver and pancreas. Low levels in peripheral blood leukocytes and in tissues of the immune system. Expressed mainly in epithelial cells. Also found in Schwann cells of peripheral neurons. Reduced expression in adenocarcinomas compared to normal tissues. In colon, prostate and placental membranes, the cells that border the lumen show the highest expression. {ECO:0000269PubMed:12432451, ECO:0000269PubMed:8939898, ECO:0000269PubMed:9251681, ECO:0000269PubMed:9605764}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 92 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
92
[view]
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Protein-Protein |
87
[view]
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Protein-DNA |
5
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004142
NDRG
IPR029058
Alpha/Beta hydrolase fold
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PFAM |
PF03096
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92597
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PhosphoSite |
PhosphoSite-Q92597
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TrEMBL |
E5RIR1
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UniProt Splice Variant |
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Entrez Gene |
10397
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UniGene |
Hs.613170
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RefSeq |
NP_006087
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HUGO |
HGNC:7679
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OMIM |
605262
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CCDS |
CCDS34945
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HPRD |
05586
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IMGT |
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EMBL |
AF004162
AF186190
AF192304
AF230380
AK091147
AK124709
AK126924
AK296794
AK298236
BC003175
CH471060
CR456842
D87953
X92845
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GenPept |
AAC13419
AAF71305
AAH03175
BAA13505
BAG52292
BAG54074
BAG54400
BAH12432
BAH12741
CAA63430
CAG33123
EAW92164
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