MAPKBP1

Chr 15q15.1

mitogen-activated protein kinase binding protein 1

Aliases:: KIAA0596, NPHP20
MANE:: ENST00000457542.7

OMIM: 616786 ↗NCBI: 23005 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAPKBP1 · O60336

v62025-08-01

Predicted Aligned Error matrix for MAPKBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.0/ 100

Low

1,514 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)14%
Low(50–70)4%
Very low(< 50)47%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nephronophthisis 20
0.72
nephronophthisis
0.70
late-onset nephronophthisis
0.37
Juvenile nephronophthisis
0.37
neurodegenerative disease
0.33
nervous system benign neoplasm
0.30
atrial fibrillation
0.29
Abnormality of the skeletal system
0.21
hereditary disease
0.19
type 2 diabetes mellitus
0.15

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

Protein function (UniProt)

Mitogen-activated protein kinase-binding protein 1

Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity)