CREB3L1

Chr 11p11.2

cAMP responsive element binding protein 3 like 1

Aliases:: OASIS
MANE:: ENST00000621158.5

OMIM: 616215 ↗NCBI: 90993 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CREB3L1 · Q96BA8

v62025-08-01

Predicted Aligned Error matrix for CREB3L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.1/ 100

Low

519 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)8%
Low(50–70)23%
Very low(< 50)57%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta
0.55
hypertensive disorder
0.38
lung carcinoma
0.37
synovial sarcoma
0.37
undifferentiated pleomorphic sarcoma
0.37
osteogenesis imperfecta type 3
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
lipoma
0.37
breast ductal adenocarcinoma
0.37
congenital fibrosarcoma
0.37

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

Protein function (UniProt)

Cyclic AMP-responsive element-binding protein 3-like protein 1

Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane (PubMed:12054625, PubMed:16417584, PubMed:25310401). In response to ER stress or DNA damage, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus where it activates transcription of specific target genes involved in the cell-cycle progression inhibition (PubMed:12054625, PubMed:21767813, PubMed:25310401)