FBXO38

Chr 5q32

F-box protein 38

Aliases:: MOKA, SP329, FLJ13962, Fbx38
MANE:: ENST00000340253.10

OMIM: 608533 ↗NCBI: 81545 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FBXO38 · Q6PIJ6

v62025-08-01

Predicted Aligned Error matrix for FBXO38 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.0/ 100

Low

1,188 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)12%
Low(50–70)5%
Very low(< 50)38%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

distal hereditary motor neuropathy type 2
0.60
asthma
0.42
chronic obstructive pulmonary disease
0.31
Charcot-Marie-Tooth disease
0.26
small intestine adenocarcinoma
0.25
pancreatitis
0.23
distal hereditary motor neuropathy
0.21
lower respiratory tract disorder
0.19
chronic lung disease
0.15
Chronic Obstructive Asthma
0.11

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

Protein function (UniProt)

F-box only protein 38

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity)