SREBF1 Chromosome 17
Sterol regulatory element binding transcription factor 1
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What This Gene Does
This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000072310
Associated Conditions (6)
Inborn genetic diseases
Obesity
Hereditary mucoepithelial dysplasia
IFAP syndrome 2
IFAP syndrome 1
with or without BRESHECK syndrome
Key Variants
RS115855236
Conflicting classifications of pathogenicity
Health Risk
RS199775670
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201090006
Conflicting classifications of pathogenicity
Obesity, Inborn genetic diseases, Obesity
Health Risk
RS529543534
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary mucoepithelial dysplasia, IFAP syndrome 2
Health Risk
RS1045239575
Likely pathogenic
Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia
Health Risk
RS1428621525
Likely pathogenic
Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia
Health Risk
RS2033688284
Pathogenic
IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 2
Health Risk
RS2033689385
Pathogenic
IFAP syndrome 2, IFAP syndrome 1, with or without BRESHECK syndrome
Health Risk
RS2033690347
Pathogenic
IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 2
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115855236 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199775670 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201090006 | Health Risk | Conflicting classifications of pathogenicity | Obesity, Inborn genetic diseases, Obesity |
| RS529543534 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary mucoepithelial dysplasia, IFAP syndrome 2 |
| RS1045239575 | Health Risk | Likely pathogenic | Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia |
| RS1428621525 | Health Risk | Likely pathogenic | Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia |
| RS2033688284 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 2 |
| RS2033689385 | Health Risk | Pathogenic | IFAP syndrome 2, IFAP syndrome 1, with or without BRESHECK syndrome |
| RS2033690347 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 2 |