Human Gene HSPB8 (ENST00000281938.7) from GENCODE V44
Description: Homo sapiens heat shock protein family B (small) member 8 (HSPB8), mRNA. (from RefSeq NM_014365) RefSeq Summary (NM_014365): The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000281938.7 Gencode Gene: ENSG00000152137.8 Transcript (Including UTRs) Position: hg38 chr12:119,178,931-119,194,746 Size: 15,816 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr12:119,179,313-119,193,858 Size: 14,546 Coding Exon Count: 3
ID:HSPB8_HUMAN DESCRIPTION: RecName: Full=Heat shock protein beta-8; Short=HspB8; AltName: Full=Alpha-crystallin C chain; AltName: Full=E2-induced gene 1 protein; AltName: Full=Protein kinase H11; AltName: Full=Small stress protein-like protein HSP22; FUNCTION: Displays temperature-dependent chaperone activity. SUBUNIT: Monomer. Interacts with HSPB1. Interacts with DNAJB6. INTERACTION: Self; NbExp=6; IntAct=EBI-739074, EBI-739074; P02511:CRYAB; NbExp=2; IntAct=EBI-739074, EBI-739060; P04792:HSPB1; NbExp=3; IntAct=EBI-739074, EBI-352682; Q16082:HSPB2; NbExp=3; IntAct=EBI-739074, EBI-739395; O14558:HSPB6; NbExp=2; IntAct=EBI-739074, EBI-739095; Q9UBY9:HSPB7; NbExp=5; IntAct=EBI-739074, EBI-739361; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock. TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart. INDUCTION: By 17-beta-estradiol. DISEASE: Defects in HSPB8 are the cause of distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]; also known as distal hereditary motor neuropathy type IIA or spinal Charcot-Marie-Tooth disease IIA. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective impairment 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. DISEASE: Defects in HSPB8 are the cause of Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]. CMT2L is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies 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. SIMILARITY: Belongs to the small heat shock protein (HSP20) family. CAUTION: Was reported (PubMed:10833516) to have a protein kinase activity and to act as a Mn(2+)-dependent serine-threonine- specific protein kinase. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB8";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00011 - Hsp20/alpha crystallin family
ModBase Predicted Comparative 3D Structure on Q9UJY1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
