CCDC47
entrez
57003
canonical
uniprot
Q96A33
canonical
ensembl
ENSG00000108588
resolver
ensp
ENSP00000225726
resolver
ensp
ENSP00000630737
resolver
genesymbol
CCDC47
resolver
hgnc
HGNC:24856
resolver
uniprot
B2RAS8
resolver
uniprot
D3DU20
resolver
uniprot
Q96D00
resolver
uniprot
Q96JZ7
resolver
uniprot
Q9H3E4
resolver
uniprot
Q9NRG3
resolver
uniprot_entry
CCD47_HUMAN
resolver
uniprot_sec
B2RAS8
resolver
uniprot_sec
D3DU20
resolver
uniprot_sec
Q96D00
resolver
uniprot_sec
Q96JZ7
resolver
uniprot_sec
Q9H3E4
resolver
uniprot_sec
Q9NRG3
resolver
amino_acid_sequence
MKAFHTFCVVLLVFGSVSEAKFDDFEDEEDIVEYDDNDFAEFEDVMEDSVTESPQRVIITEDDEDETTVELEGQDENQEGDFEDADTQEGDTESEPYDDEEFEGYEDKPDTSSSKNKDPITIVDVPAHLQNSWESYYLEILMVTGLLAYIMNYIIGKNKNSRLAQAWFNTHRELLESNFTLVGDDGTNKEATSTGKLNQENEHIYNLWCSGRVCCEGMLIQLRFLKRQDLLNVLARMMRPVSDQVQIKVTMNDEDMDTYVFAVGTRKALVRLQKEMQDLSEFCSDKPKSGAKYGLPDSLAILSEMGEVTDGMMDTKMVHFLTHYADKIESVHFSDQFSGPKIMQEEGQPLKLPDTKRTLLFTFNVPGSGNTYPKDMEALLPLMNMVIYSIDKAKKFRLNREGKQKADKNRARVEENFLKLTHVQRQEAAQSRREEKKRAEKERIMNEEDPEKQRRLEEAALRREQKKLEKKQMKMKQIKVKAM
uniprot
proteins
disease_involvement
DISEASE: Trichohepatoneurodevelopmental syndrome (THNS) [MIM:618268]: An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay. {ECO:0000269|PubMed:30401460}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:A0A8I3P7X4, ECO:0000250|UniProtKB:Q9D024, ECO:0000269|PubMed:25009997, ECO:0000269|PubMed:30401460, ECO:0000269|PubMed:32814900, ECO:0000269|PubMed:32820719, ECO:0000269|PubMed:36261522}.
uniprot
proteins
mass_dalton
55874
uniprot
proteins
protein_family
CCDC47 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25009997
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30401460
uniprot
proteins
pubmed
32814900
uniprot
proteins
pubmed
32820719
uniprot
proteins
pubmed
36261522
uniprot
proteins
sequence_length
483
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25009997, ECO:0000269|PubMed:30401460, ECO:0000269|PubMed:32814900}; Single-pass type I membrane protein {ECO:0000255}. Rough endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9D024}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 136..155; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins