| Gene Information | |
|---|---|
| Gene Name | SMDF |
| Organism | Homo sapiens (Human) |
| Gene Length | 640 |
| Protein Names | Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory and motor neuron-derived factor)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q02297 |
| Gene Card | NRG1 |
| Uniprot ID | Q02297 |
| Pfam | PF00008; PF07679; PF02158 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Type I isoforms are the predominant forms expressed in the endocardium. Isoform alpha is expressed in breast, ovary, testis, prostate, heart, skeletal muscle, lung, placenta liver, kidney, salivary gland, small intestine and brain, but not in uterus, stomach, pancreas, and spleen. Isoform 3 is the predominant form in mesenchymal cells and in non-neuronal organs, whereas isoform 6 is the major neuronal form. Isoform 8 is expressed in spinal cord and brain. Isoform 9 is the major form in skeletal muscle cells; in the nervous system it is expressed in spinal cord and brain. Also detected in adult heart, placenta, lung, liver, kidney, and pancreas. Isoform 10 is expressed in nervous system: spinal cord motor neurons, dorsal root ganglion neurons, and brain. Predominant isoform expressed in sensory and motor neurons. Not detected in adult heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas. Not expressed in fetal lung, liver and kidney. Type IV isoforms are brain-specific. {ECO:0000269|PubMed:17565985}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1HAE (NMR - ) 1HAF (NMR - ) 1HRE (NMR - ) 1HRF (NMR - ) 3U7U (X-ray 3.03A ) 7MN5 (EM 2.93A ) 7MN6 (EM 3.09A ) 7MN8 (EM 3.45A ) 7SJL (NMR - ) |
| DBSNP | rs3924999 rs10503929 rs3735774 rs34822181 |
| Subcellular location [CC] | [Pro-neuregulin-1, membrane-bound isoform]: Cell membrane; Single-pass type I membrane protein. Note=Does not seem to be active.; [Neuregulin-1]: Secreted.; [Isoform 8]: Nucleus. Note=May be nuclear.; [Isoform 9]: Secreted. Note=Has a signal peptide.; [Isoform 10]: Membrane; Single-pass type I membrane protein. Note=May possess an internal uncleaved signal sequence. |
| Mouse PG classification | NA |
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