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Details of HSPD1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HSPD1 | HSP60 | P10809 | CH60_HUMAN | 3329 | ENSG00000144381 | 60 kDa heat shock protein, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in this entry. | 605280 | Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612233 | ||||||
Phenotypes
Abnormal CNS myelination, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of eye movement, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of temperature regulation, Abnormality of the bladder, Abnormality of the central nervous system, Abnormality of the eye, Abnormality of the genitourinary system, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormal joint morphology, Abnormal muscle tone, Age of onset, All, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Chorea, Choreoathetosis, Cognitive impairment, Congenital onset, Fever, Flexion contracture, Functional abnormality of the bladder, Hyperreflexia, Hypertonia, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Intellectual disability, Intellectual disability, profound, Involuntary movements, Leukodystrophy, Limb muscle weakness, Lower limb muscle weakness, Lower limb spasticity, Mode of inheritance, Muscle weakness, Muscular hypotonia, Nystagmus, Onset, Onset and clinical course, Pace of progression, Paralysis due to lesions of the principle motor tracts, Paraplegia, Paraplegia/paraparesis, Peripheral neuropathy, Phenotypic abnormality, Progressive disorder, Progressive spasticity, Seizures, Sensory impairment, Spastic gait, Spasticity, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hspd1 | Hsp60... | hsp-60 | Sp-HspD1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HSPD1 | HSPE1 | 0.993908675 | HSPD1 | HSPE1 | cpx146; cpx230 | no | yes | yes | Known |
| HSP90AB1 | HSPD1 | 0.077230627 | HSP90AB1 | HSPD1 | cpx975 | no | yes | yes | Known |
| HSPD1 | KIAA1967 | 1 | HSPD1 | KIAA1967 | cpx437 | no | no | no | Novel |
| HSPD1 | SLC25A33 | 0.464256277 | HSPD1 | SLC25A33 | cpx437 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| REXO2 | HSPD1 | 0.107028604 | REXO2 | HSPD1 |
| HSPD1 | TANGO2 | 0.308411137 | HSPD1 | TANGO2 |
| HSPD1 | GLOD4 | 0.106142032 | HSPD1 | GLOD4 |
| PACSIN2 | HSPD1 | 0.112293117 | PACSIN2 | HSPD1 |
| HSPD1 | TUBB4B | 0.131833827 | HSPD1 | TUBB4B |
| P4HB | HSPD1 | 0.107204851 | P4HB | HSPD1 |
| HSPD1 | GMPPB | 0.0738884 | HSPD1 | GMPPB |
| PREP | HSPD1 | 0.093490365 | PREP | HSPD1 |
| HSPD1 | HSPA4 | 0.090967091 | HSPD1 | HSPA4 |
| HSPD1 | PACSIN3 | 0.079999217 | HSPD1 | PACSIN3 |