Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2N3J | Solution Structure of the alpha-crystallin domain from the redox-sensitive chaperone, HSPB1 | |
| 3Q9P | 2.0 | HspB1 fragment |
| 3Q9Q | 2.2 | HspB1 fragment second crystal form |
| 4MJH | 2.599 | Human Hsp27 core domain in complex with C-terminal peptide |
| 6DV5 | 3.58 | Oligomeric complex of a Hsp27 24-mer at 3.6 A resolution |
| 6GJH | 2.1 | Human Hsp27 (HspB1) alpha-crystallin domain in complex with a peptide mimic of its phosphorylatable N-terminal region |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0099641 | anterograde axonal protein transport |
| Biological Process | GO:0035924 | cellular response to vascular endothelial growth factor stimulus |
| Biological Process | GO:0061077 | chaperone-mediated protein folding |
| Biological Process | GO:0035556 | intracellular signal transduction |
| Biological Process | GO:0043066 | negative regulation of apoptotic process |
| Biological Process | GO:1902176 | negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway |
| Biological Process | GO:0006469 | negative regulation of protein kinase activity |
| Biological Process | GO:0070527 | platelet aggregation |
| Biological Process | GO:0045766 | positive regulation of angiogenesis |
| Biological Process | GO:0043536 | positive regulation of blood vessel endothelial cell migration |
| Biological Process | GO:2001028 | positive regulation of endothelial cell chemotaxis |
| Biological Process | GO:0038033 | positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway |
| Biological Process | GO:0032731 | positive regulation of interleukin-1 beta production |
| Biological Process | GO:0032760 | positive regulation of tumor necrosis factor production |
| Biological Process | GO:0043122 | regulation of I-kappaB kinase/NF-kappaB signaling |
| Biological Process | GO:0010506 | regulation of autophagy |
| Biological Process | GO:0001932 | regulation of protein phosphorylation |
| Biological Process | GO:0006446 | regulation of translational initiation |
| Biological Process | GO:0006986 | response to unfolded protein |
| Biological Process | GO:0009615 | response to virus |
| Biological Process | GO:0001895 | retina homeostasis |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0061629 | RNA polymerase II-specific DNA-binding transcription factor binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0044183 | protein folding chaperone |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0005080 | protein kinase C binding |
| Molecular Function | GO:0008426 | protein kinase C inhibitor activity |
| Molecular Function | GO:0019901 | protein kinase binding |
| Molecular Function | GO:0043130 | ubiquitin binding |
| Cellular Component | GO:0030018 | Z disc |
| Cellular Component | GO:1904115 | axon cytoplasm |
| Cellular Component | GO:0001533 | cornified envelope |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005856 | cytoskeleton |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0005925 | focal adhesion |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0000502 | proteasome complex |
| Cellular Component | GO:0005819 | spindle |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-4420097 | VEGFA-VEGFR2 Pathway | Internal node | R-HSA-162582 | Signal Transduction |
| R-HSA-450408 | AUF1 (hnRNP D0) binds and destabilizes mRNA | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-5687128 | MAPK6/MAPK4 signaling | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9009391 | Extra-nuclear estrogen signaling | Internal node | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:10777697 |
| Cytoplasm | ECO:0000269 | PubMed:28144995 |
| Cytoplasm, cytoskeleton, spindle | ECO:0000269 | PubMed:10777697 |
| Nucleus | ECO:0000269 | PubMed:19464326 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001178 | Ulnar claw |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0002355 | Difficulty walking |
| HP:0002380 | Fasciculations |
| HP:0002460 | Distal muscle weakness |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002600 | Hyporeflexia of lower limbs |
| HP:0002601 | Paresis of extensor muscles of the big toe |
| HP:0002936 | Distal sensory impairment |
| HP:0003376 | Steppage gait |
| HP:0003394 | Muscle spasm |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003470 | Paralysis |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003581 | Adult onset |
| HP:0003584 | Late onset |
| HP:0003596 | Middle age onset |
| HP:0003677 | Slowly progressive |
| HP:0007267 | Chronic axonal neuropathy |
| HP:0007289 | Limb fasciculations |
| HP:0007328 | Impaired pain sensation |
| HP:0007340 | Lower limb muscle weakness |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009129 | Upper limb amyotrophy |
| HP:0009830 | Peripheral neuropathy |
| HP:0010829 | Impaired temperature sensation |
| HP:0012391 | Hyporeflexia of upper limbs |
| HP:0025710 | Late young adult onset |
| HP:0034337 | Claw hand deformity |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| bone marrow | hematopoietic cells | Low | Enhanced |
| breast | glandular cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | High | Enhanced |
| cerebellum | Purkinje cells - cytoplasm/membrane | Medium | Enhanced |
| cerebellum | Purkinje cells - dendrites | Medium | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | endothelial cells | High | Enhanced |
| colon | enterocytes | Low | Enhanced |
| duodenum | paneth cells | Medium | Enhanced |
| endometrium 1 | glandular cells | High | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| esophagus | squamous epithelial cells | High | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| kidney | cells in glomeruli | Medium | Enhanced |
| kidney | distal tubules | Medium | Enhanced |
| kidney | proximal tubules (cell body) | Medium | Enhanced |
| liver | cholangiocytes | Low | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| lung | alveolar cells | Low | Enhanced |
| lung | macrophages | Medium | Enhanced |
| nasopharynx | respiratory epithelial cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | High | Enhanced |
| ovary | follicle cells | High | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | decidual cells | High | Enhanced |
| placenta | trophoblastic cells | High | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | enterocytes | Low | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | cells in basal layer | Medium | Enhanced |
| skin 1 | cells in granular layer | Medium | Enhanced |
| skin 1 | cells in spinous layer | Medium | Enhanced |
| skin 1 | eccrine glands | Medium | Enhanced |
| skin 1 | endothelial cells | Low | Enhanced |
| skin 1 | fibrohistiocytic cells | Low | Enhanced |
| skin 1 | langerhans cells | Medium | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| skin 2 | cells in basal layer | Medium | Enhanced |
| skin 2 | cells in granular layer | High | Enhanced |
| skin 2 | cells in spinous layer | High | Enhanced |
| skin 2 | endothelial cells | Medium | Enhanced |
| skin 2 | langerhans cells | High | Enhanced |
| skin 2 | melanocytes | Medium | Enhanced |
| small intestine | enterocytes | Low | Enhanced |
| small intestine | paneth cells | Medium | Enhanced |
| smooth muscle | smooth muscle cells | Medium | Enhanced |
| soft tissue 1 | chondrocytes | Medium | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 2 | fibroblasts | Low | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Low | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | squamous epithelial cells | High | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| charcot-marie-tooth disease axonal type 2f | MONDO:0011687 | G60 | chapter6, Diseases of the nervous system | OMIM:606595 | Orphanet:99940 |
| neuronopathy, distal hereditary motor, type 2b | MONDO:0012080 | G12 | chapter6, Diseases of the nervous system | OMIM:608634 |