CCDC47 (coiled-coil domain containing 47)
| Gene | |
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57003 |
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Coiled-coil domain containing 47 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CCDC47 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GK001, MSTP041, THNS |
|
Chromosome
Chromosome number
|
17 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q23.3 |
|
SNPs
SNP information provided by dbSNP.
|
|||||||||||||||||||||
|
|||||||||||||||||||||
|
miRNA
miRNA information provided by mirtarbase database.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
|||||||
| Protein | |||||||||||
| UniProt ID | Q96A33 | ||||||||||
| Protein name | PAT complex subunit CCDC47 (Calumin) (Coiled-coil domain-containing protein 47) | ||||||||||
| Protein 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 comp | ||||||||||
| PDB | 6W6L | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Sequence |
|
||||||||||
| Sequence length | 483 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
|
|||||||||||||
|
|||||||||||||
|
|||||||||||||