CCDC47

Chr 17q23.3

coiled-coil domain containing 47

Aliases:: GK001
MANE:: ENST00000225726.10

OMIM: 618260 ↗NCBI: 57003 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCDC47 · Q96A33

v62025-08-01

Predicted Aligned Error matrix for CCDC47 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

483 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)23%
Low(50–70)14%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis

Disease associations (Open Targets)

trichohepatoneurodevelopmental syndrome
0.68
preeclampsia
0.17
response to xenobiotic stimulus
0.11
hypertensive disorder
0.11
benign neoplasm of adrenal gland
0.09
myotonic syndrome
0.05
neuromuscular disease
0.05
diabetes mellitus
0.04
cardiomyopathy
0.04
obesity disorder
0.03

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

Protein function (UniProt)

PAT complex subunit CCDC47

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, CCDC47 occludes the lateral gate of the SEC61 complex (By similarity). Involved in the regulation of calcium ion homeostasis in the ER (PubMed:30401460). Required for proper protein degradation via the ERAD (ER-associated degradation) pathway (PubMed:25009997). Has an essential role in the maintenance of ER organization during embryogenesis (By similarity)