Q8C6A8 · BHE22_MOUSE
- ProteinClass E basic helix-loop-helix protein 22
- GeneBhlhe22
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids355 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity).
In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal cord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (PubMed:22284184).
In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal cord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (PubMed:22284184).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Names & Taxonomy
Protein names
- Recommended nameClass E basic helix-loop-helix protein 22
- Short namesbHLHe22
- Alternative names
Gene names
Organism names
- Organism
- Strain
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ8C6A8
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Phenotypes & Variants
Disruption phenotype
Null mice exhibits aberrant expression of brain area-specific genes and structural organization in the somatosensory and caudal motor cortices. In somatosensory cortex, vibrissal barrels display postsynaptic disorganization. In caudal motor cortex, anomalous differentiation of corticospinal motor neurons is observed, accompanied by failure of corticospinal tract formation. Mice also develop self-inflicted skin lesions and show significantly enhanced scratching responses to pruritic agents, due to the selective loss of a subset of spinal cord inhibitory interneurons.
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000274286 | 1-355 | Class E basic helix-loop-helix protein 22 | |||
Sequence: MERGLHLGAAAASEDDLFLHKSLGTSAAKRLEAAFRSTPPGMDLSLAPPTRERPASSSSPLGCFEPADPEGAGLRLPPPGGGGGASGGGGGVSVPGLLVGSAGVGGEPSLSSLPAGAALCLKYGESAGRGSVAESSGGEQSPDDDSDGLCELVLRAGGPDPRASPRAGGGSAKVAEGCSNAHLHGGSGLPPGGPTSGGGSGGGGGGSSKKSKEQKALRLNINARERRRMHDLNDALDELRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQALEEMRRLVAYLNQGQAISAASLPSSAAAAAAAAALHPALGAYEQAAGYPFSAGLPPAASCPEKCALFNSVSSSLCKQCTEKP |
Proteomic databases
PTM databases
Expression
Tissue specificity
Brain-specific, with the highest expression in the cerebellum.
Developmental stage
Expressed at 11.5 dpc within the neuroblast layer (NBL) of the central retina. As retinogenesis progressed from central to peripheral retina from 12 dpc to 15.5 dpc, expression expanded to the entire retina with the majority of Bhlhb5+ cells being detected in the proliferating NBL. From 17.5 dpc to birth (P0), expression became restricted to the ganglion cell layer (GCL) and to the inner boundary of the NBL (INL; inner nuclear layer), presumably the newly formed ACL (amacrine cells). Predominantly expressed in post-mitotic cells in the developing retina. Expressed from 9.5 dpc in the neural tube, restricted to longitudinal ventral columns of neurons, extending from the hindbrain to the caudal spinal cord. In the developing cortex, at 12.5 dpc, expressed in the nascent cortical plate of the dorsal telencephalon (at protein level). During peak production of deep layer neurons between 12.5 and 13.5 dpc, restricted to postmigrational neurons, with no expression in the proliferative ventricular zone (VZ) or in migrating neurons. Between 15.5 and 17.5 dpc, when superficial layer neurons are generated, strongly expressed in the cortical plate and weakly in presumptive migrating neurons and in the subventricular zone (SVZ). Does not colocalize with proliferating progenitors in S or M phase in either the VZ or the SVZ; restricted to postmitotic glutamatergic projection neurons during neurogenesis. Not detected in cortical GABAergic interneurons or their extracortical sites of genesis, the medial and caudal ganglionic eminences (at protein level). Postnatally, down-regulation begins at the junction of the cingulate cortex and neocortex; by postnatal day 4 (P4), down-regulation well into the neocortex is observed anteriorly, with the exception of the most superficial layer. At P4, expressed in neocortical layers II, III, IV, and V. Within layer VI, expressed in only very rare scattered TBR1 negative neurons. Down-regulation continues from medial to lateral, exhibiting a markedly reduced expression by P14. Expression varies strikingly along the A-P axis with a precipitous decrease in the rostral cortical plate. At 12.5 dpc, highly expressed medially in the cingulate cortex with weak expression in the rest of the cortex. At 15.5 dpc, expressed in a high caudomedial to a low rostrolateral gradient. Between 15.5dpc and P0, expression increases laterally and the gradient gradually transforms into a sharp border between the presumptive rostral motor and sensory domains. During the first postnatal week, there is a further transformation from homogeneous expression across sensory cortex into discrete areas of high expression coincident with the primary sensory areas. At P4 and P7, expressed in primary visual cortex, primary auditory cortex and distinct primary somatosensory representations, including the vibrissal barrel field. In the spinal chord, transiently expressed in V1, V2, and dI6 interneurons at 10.5 dpc. Also observed in a subpopulation of late-born neurons that migrate to the superficial layers of the dorsal horn. Expression starts shortly after the neurons exit mitosis at 13.5 dpc and persisting for up to 2 weeks postnatally. At birth, about one-third of dorsal horn neurons expressing the protein are excitatory and two-thirds inhibitory. Also expressed in the developing eye and hair follicles, in the epithelial layer of the cochlea in the developing inner, and in the nasal epithelium. At 16.5 dpc, expressed outside the CNS, in particular in all sensory organs; in the nasal pits, transcripts can be detected in the olfactory epithelium. In the developing eye it can be found in the inner and outer retinal layer, and it is also detectable in the sensory layer of the cochlea in the developing inner ear. In addition, expression is found in the developing hair follicles, both in the epithelial component and in the dermal papilla, and in the skin.
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 34-90 | Disordered | ||||
Sequence: AFRSTPPGMDLSLAPPTRERPASSSSPLGCFEPADPEGAGLRLPPPGGGGGASGGGG | ||||||
Region | 128-215 | Disordered | ||||
Sequence: GRGSVAESSGGEQSPDDDSDGLCELVLRAGGPDPRASPRAGGGSAKVAEGCSNAHLHGGSGLPPGGPTSGGGSGGGGGGSSKKSKEQK | ||||||
Domain | 216-270 | bHLH | ||||
Sequence: ALRLNINARERRRMHDLNDALDELRAVIPYAHSPSVRKLSKIATLLLAKNYILMQ |
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length355
- Mass (Da)35,217
- Last updated2003-03-01 v1
- ChecksumCA221A9169FCB897
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0R4J056 | A0A0R4J056_MOUSE | Bhlhe22 | 355 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 75 | in Ref. 1; AAF32324 | ||||
Sequence: R → L | ||||||
Sequence conflict | 149 | in Ref. 1; AAF32324 | ||||
Sequence: L → R | ||||||
Sequence conflict | 166 | in Ref. 1; AAF32324 | ||||
Sequence: R → G |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF218865 EMBL· GenBank· DDBJ | AAF32324.1 EMBL· GenBank· DDBJ | mRNA | ||
AK076228 EMBL· GenBank· DDBJ | BAC36262.1 EMBL· GenBank· DDBJ | mRNA | ||
BC053007 EMBL· GenBank· DDBJ | AAH53007.1 EMBL· GenBank· DDBJ | mRNA |