CCDC47 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0009791Biological processpost-embryonic development
GO_0001649Biological processosteoblast differentiation
GO_0006983Biological processER overload response
GO_0006457Biological processprotein folding
GO_0160063Biological processmulti-pass transmembrane protein insertion into ER membrane
GO_0036503Biological processERAD pathway
GO_0032469Biological processendoplasmic reticulum calcium ion homeostasis
GO_0045048Biological processprotein insertion into ER membrane
GO_0160064Cellular componentmulti-pass translocon complex
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0101031Cellular componentprotein folding chaperone complex
GO_0005783Cellular componentendoplasmic reticulum
GO_0030867Cellular componentrough endoplasmic reticulum membrane
GO_0044183Molecular functionprotein folding chaperone
GO_0043022Molecular functionribosome binding
GO_0003723Molecular functionRNA binding
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCCDC47
Protein nameCoiled-coil domain containing 47
PAT complex subunit CCDC47 (Calumin) (Coiled-coil domain-containing protein 47)
SynonymsGK001
MSTP041
PSEC0077
DescriptionFUNCTION: Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes . 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 . 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 . Required for proper protein degradation via the ERAD (ER-associated degradation) pathway . Has an essential role in the maintenance of ER organization during embryogenesis (By similarity). .

AccessionsQ96A33
ENST00000580986.1
J3KRX4
ENST00000225726.10 [Q96A33-1]
ENST00000403162.7 [Q96A33-1]
ENST00000582252.1 [Q96A33-2]