IGBP1

Chr Xq13.1

immunoglobulin binding protein 1

Aliases:: α4
MANE:: ENST00000356413.5

OMIM: 300139 ↗NCBI: 3476 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IGBP1 · P78318

v62025-08-01

Predicted Aligned Error matrix for IGBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.8/ 100

Confident

339 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)27%
Low(50–70)15%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ocular coloboma
Structural eye disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
0.54
Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
0.49
neurodegenerative disease
0.25
nasopharyngeal carcinoma
0.07
breast cancer
0.07
lobular neoplasia
0.06
esophageal squamous cell carcinoma
0.06
systemic lupus erythematosus
0.05
lung adenocarcinoma
0.04
nephritis
0.04

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

Protein function (UniProt)

Immunoglobulin-binding protein 1

Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits