SF1

Chr 11q13.1

splicing factor 1

Aliases:: ZFM1, ZCCHC25, BBP
MANE:: ENST00000377390.8

OMIM: 601516 ↗NCBI: 7536 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SF1 · Q15637

v62025-08-01

Predicted Aligned Error matrix for SF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.2/ 100

Low

639 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)27%
Low(50–70)28%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder
0.55
Intellectual disability
0.37
neurodegenerative disease
0.31
disorder of sexual differentiation
0.10
head and neck cancer
0.09
adenoma
0.09
Hypoglycemia
0.08
breast carcinoma
0.07
breast cancer
0.07
fetal growth restriction
0.06

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

Protein function (UniProt)

Steroidogenic factor 1

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation