SBF1

Chr 22q13.33

SET binding factor 1

Aliases:: MTMR5, DENND7A
MANE:: ENST00000380817.8

OMIM: 603560 ↗NCBI: 6305 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SBF1 · O95248

v62025-08-01

Predicted Aligned Error matrix for SBF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

1,868 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)37%
Low(50–70)11%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 4B3
0.73
neurodegenerative disease
0.53
Alzheimer disease
0.45
multiple sclerosis
0.45
Parkinson disease
0.45
lysosomal storage disease
0.45
hypothyroidism
0.42
Tip-toe gait
0.36
vertebral column disorder
0.28
Charcot-Marie-Tooth disease
0.27

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

Protein function (UniProt)

Myotubularin-related protein 5

Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Acts as a suppressor of autophagy in neurons (PubMed:35580604). Together with its binding partner, the phosphatase MTMR2, plays a role in dephosphorylation of phosphoinositides critical for autophagy initiation and autophagosome maturation (PubMed:35580604). Plays a role in positively regulating late-stage radial sorting of large caliber axons, a process leading to myelination by Schwann cells, possibly via regulating endosomal trafficking (By similarity). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414)