Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
Differential expression profiling of membrane proteins by quantitative proteomics in a human mesenchymal stem cell line undergoing osteoblast differentiation.
Defining the membrane proteome of NK cells.
Mapping a dynamic innate immunity protein interaction network regulating type I interferon production.
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.
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Calumin co-IPs with ERAD machinery and its knockdown reduces ERAD efficiency.
"calumin knockdown in HEK 293 cells resulted in ERAD being less efficient, as demonstrated by attenuation in both degradations of a misfolded α1-antitrypsin variant and the ER-to-cytosol dislocation of cholera toxin A1 subunit."
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
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CCDC47/calumin binds Ca2+ with low affinity and high capacity; biallelic loss causes a multisystem disorder with impaired ER calcium homeostasis.
"In vitro cellular experiments showed decreased total ER Ca2+ storage, impaired Ca2+ signaling mediated by the IP3R Ca2+ release channel, and reduced ER Ca2+ refilling via store-operated Ca2+ entry."
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
An intramembrane chaperone complex facilitates membrane protein biogenesis.
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CCDC47 and Asterix (WDR83OS) form the obligate PAT intramembrane chaperone complex that protects nascent TMDs during multi-pass membrane protein biogenesis.
"Here we identify the PAT complex, an abundant obligate heterodimer of the widely conserved ER-resident membrane proteins CCDC47 and Asterix."
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Asterix is the substrate-contacting subunit; CCDC47 is the scaffold required for Asterix stability.
"Asterix is the substrate- interacting subunit of the PAT complex, while CCDC47 is needed for Asterix stability."
An ER translocon for multi-pass membrane protein biogenesis.
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CCDC47 is a component of a ribosome-associated Sec61 multi-pass translocon assembly.
"Here we describe a ~ 360 kDa ribosome-associated complex comprising the core Sec61 channel and five accessory factors: TMCO1, CCDC47 and the Nicalin-TMEM147-NOMO complex."
OpenCell: Endogenous tagging for the cartography of human cellular organization.
Substrate-driven assembly of a translocon for multipass membrane proteins.
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The PAT complex (CCDC47/Asterix) is one of three accessory subcomplexes of the substrate-recruited multi-pass translocon required for multi-pass protein topogenesis.
"Reconstitution studies demonstrate a role for multipass translocon components in protein topogenesis, and cells lacking these components show reduced multipass protein stability."
CCDC47 UniProtKB record (Q96A33)
Manual CCDC47 curation notes