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Details of NDRG1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| NDRG1 | CAP43,DRG1,RTP | Q92597 | NDRG1_HUMAN | 10397 | ENSG00000104419 | Protein NDRG1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 601455 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal auditory evoked potentials, Abnormality of cell physiology, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of skeletal morphology, Abnormality of the foot, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormal peripheral myelination, Age of onset, All, Amyotrophy, Areflexia, Autosomal recessive inheritance, Axonal loss, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Distal amyotrophy, Distal sensory impairment, Gait disturbance, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Intracellular accumulation of autofluorescent lipopigment storage material, Juvenile onset, Mode of inheritance, Neurophysiological abnormality, Onion bulb formation, Onset, Onset and clinical course, Peripheral axonal degeneration, Peripheral demyelination, Peripheral neuropathy, Phenotypic abnormality, Positional foot deformities, Reduced tendon reflexes, Segmental peripheral demyelination, Sensory impairment, Talipes, Talipes cavus equinovarus, Talipes equinovarus.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ndrg1 | MESK2 | Y48G10A.3 | Sp-Ndrg1L... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| NDRG1 | DHX15 | 0.126499234 | NDRG1 | DHX15 | cpx67 | no | no | no | Novel |
| NDRG1 | G6PD | 0.426121573 | NDRG1 | G6PD | cpx229 | no | no | no | Novel |
| DDX17 | NDRG1 | 0.041462352 | DDX17 | NDRG1 | cpx67 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| TSG101 | NDRG1 | 0.101461396 | TSG101 | NDRG1 |
| USP14 | NDRG1 | 0.088046827 | USP14 | NDRG1 |
| XPO1 | NDRG1 | 0.102749534 | XPO1 | NDRG1 |
| NDRG1 | HIP1R | 0.091481445 | NDRG1 | HIP1R |
| THUMPD1 | NDRG1 | 0.09099682 | THUMPD1 | NDRG1 |
| NDRG1 | GART | 0.086814118 | NDRG1 | GART |
| CLIC4 | NDRG1 | 0.129926994 | CLIC4 | NDRG1 |
| NDRG1 | TARDBP | 0.0899081 | NDRG1 | TARDBP |
| NDRG1 | NTMT1 | 0.07878739 | NDRG1 | NTMT1 |
| CCDC22 | NDRG1 | 0.095419661 | CCDC22 | NDRG1 |
| SH2D4A | NDRG1 | 0.111816318 | SH2D4A | NDRG1 |
| NDRG1 | UFM1 | 0.073846625 | NDRG1 | UFM1 |
| TIMM13 | NDRG1 | 0.071764461 | TIMM13 | NDRG1 |
| NAA50 | NDRG1 | 0.100288511 | NAA50 | NDRG1 |
| C22orf28 | NDRG1 | 0.143912925 | C22orf28 | NDRG1 |
| NDRG1 | NIF3L1 | 0.085401811 | NDRG1 | NIF3L1 |