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Details of HSPB1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HSPB1 | HSP27,HSP28 | P04792 | HSPB1_HUMAN | 3315 | ENSG00000106211 | Heat shock protein beta-1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]: A dominant 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 regeneration 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. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. Note=The disease is caused by mutations affecting the gene represented in this entry. | 606595 | Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this entry. | 608634 | ||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the foot, Abnormality of the foot musculature, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the lower limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the upper limb, Adult onset, Age of onset, All, Amyotrophy, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Difficulty walking, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG abnormality, EMG: neuropathic changes, Fasciculations, Functional motor problems., Gait disturbance, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Involuntary movements, Mode of inheritance, Muscle cramps, Muscle weakness, Onset, Onset and clinical course, Pace of progression, Paralysis, Paresis of extensor muscles of the big toe, Peripheral neuropathy, Pes cavus, Phenotypic abnormality, Reduced tendon reflexes, Sensory impairment, Slow progression, Steppage gait, Ulnar claw.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hspb1 | --- | hsp-25 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HSPB1 | HSPA9 | 0.070453407 | HSPB1 | HSPA9 | cpx959 | no | yes | no | Known |
| HSPB1 | HSPA8 | 0.098799399 | HSPB1 | HSPA8 | cpx959 | no | yes | no | Known |
| GDI2 | HSPB1 | 0.362074542 | GDI2 | HSPB1 | cpx347 | no | yes | no | Known |
| HSPB1 | LGALS1 | 0.062986416 | HSPB1 | LGALS1 | cpx959 | no | no | no | Novel |
| HSPB1 | PDLIM1 | 0.406229452 | HSPB1 | PDLIM1 | cpx347 | no | no | no | Novel |