SREBF1

Chr 17p11.2

sterol regulatory element binding transcription factor 1

Aliases:: SREBP1, bHLHd1, SREBP-1c, SREBP1a
MANE:: ENST00000261646.11

OMIM: 184756 ↗NCBI: 6720 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SREBF1 · P36956

v62025-08-01

Predicted Aligned Error matrix for SREBF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.5/ 100

Low

1,147 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)35%
Low(50–70)9%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hereditary mucoepithelial dysplasia
0.71
IFAP syndrome 2
0.71
neurodegenerative disease
0.48
IFAP syndrome 1, with or without BRESHECK syndrome
0.45
Alzheimer disease
0.38
Parkinson disease
0.38
multiple sclerosis
0.37
Hirschsprung disease
0.37
lysosomal storage disease
0.37
type 2 diabetes mellitus
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sterol regulatory element-binding protein 1

Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity)