Gene Information | |
---|---|
Gene Name | BHLHD1 |
Organism | Homo sapiens (Human) |
Gene Length | 1147 |
Protein Names | Sterol regulatory element-binding protein 1 (SREBP-1) (Class D basic helix-loop-helix protein 1) (bHLHd1) (Sterol regulatory element-binding transcription factor 1) [Cleaved into: Processed sterol regulatory element-binding protein 1 (Transcription factor SREBF1)] |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | P36956 |
Gene Card | SREBF1 |
Uniprot ID | P36956 |
Pfam | PF00010 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Expressed in a wide variety of tissues, most abundant in liver and adrenal gland (PubMed:8402897). In fetal tissues lung and liver shows highest expression (PubMed:8402897). {ECO:0000269|PubMed:8402897}.; [Isoform SREBP-1A]: Predominates in hepatoma cell lines (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897). {ECO:0000269|PubMed:8402897}.; [Isoform SREBP-1C]: Predominantly expressed in liver and adipose tissues (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897). {ECO:0000269|PubMed:8402897}. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002190(Rat);NULL(Rabbit) |
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 | 1AM9 (X-ray 2.30A ) |
DBSNP | rs17855793 rs35188700 rs2229590 rs2033690347 rs1428621525 rs2033688284 rs36215896 rs2228461 rs17855792 rs1042017 rs35014224 |
Subcellular location [CC] | [Sterol regulatory element-binding protein 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12202038}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9WTN3}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000250|UniProtKB:Q9WTN3}; Multi-pass membrane protein {ECO:0000255}. Note=At high sterol concentrations, the SCAP-SREBP is retained in the endoplasmic reticulum. Low sterol concentrations promote recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi, where it is processed. {ECO:0000250|UniProtKB:Q9WTN3}.; [Processed sterol regulatory element-binding protein 1]: Nucleus {ECO:0000269|PubMed:11477106, ECO:0000269|PubMed:32322062}.; [Isoform SREBP-1aDelta]: Nucleus {ECO:0000269|PubMed:18267114, ECO:0000269|PubMed:32497488}.; [Isoform SREBP-1cDelta]: Nucleus {ECO:0000269|PubMed:18267114, ECO:0000269|PubMed:32497488}. |
Mouse PG classification | NA |
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