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H.sapiens
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Details of DYNC1H1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| DYNC1H1 | DHC1,DNCH1,DNCL,DNECL,DYHC,KIAA0325 | Q14204 | DYHC1_HUMAN | 1778 | ENSG00000197102 | Cytoplasmic dynein 1 heavy chain 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED is characterized by muscle weakness predominantly affecting the proximal lower extremities. Note=The disease is caused by mutations affecting the gene represented in this entry. | 158600 | Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]: An axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614228 | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614563 | ||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Dync1h1 | Dhc64C | dhc-1 | Sp-Cytpd1hc | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| DYNC1LI2 | DYNC1H1 | 1 | DYNC1LI2 | DYNC1H1 | cpx128 | no | yes | no | Known |
| DYNC1I2 | DYNC1H1 | 1 | DYNC1I2 | DYNC1H1 | cpx128 | no | yes | no | Known |
| DYNLT1 | DYNC1H1 | 1 | DYNLT1 | DYNC1H1 | cpx128 | no | yes | no | Known |
| DYNC1LI1 | DYNC1H1 | 1 | DYNC1LI1 | DYNC1H1 | cpx128 | no | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| RUVBL2 | DYNC1H1 | 0.073616027 | RUVBL2 | DYNC1H1 |
| NCBP1 | DYNC1H1 | 0.120216924 | NCBP1 | DYNC1H1 |
| PRMT5 | DYNC1H1 | 0.081617348 | PRMT5 | DYNC1H1 |
| DCTN2 | DYNC1H1 | 0.192394035 | DCTN2 | DYNC1H1 |
| DYNC1H1 | DCTN1 | 0.670961921 | DYNC1H1 | DCTN1 |
| PIN4 | DYNC1H1 | 0.08155229 | PIN4 | DYNC1H1 |
| PAFAH1B1 | DYNC1H1 | 0.119203418 | PAFAH1B1 | DYNC1H1 |