CCDC47 - coiled-coil domain containing 47 Gene

Also Known as THNS; GK001; MSTP041

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57003

About CCDC47

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,745,255-63,773,597 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 44.7), duodenum (RPKM 34.8) and 25 other tissues.

Summary

Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and protein insertion into ER membrane. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

CCDC47 Products (1)

mRNA	Protein	Name
NM_020198.3	NP_064583.2	PAT complex subunit CCDC47 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA
enables protein folding chaperone	IDA IDA: Inferred from direct assay	32814900	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	32820719	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	25009997	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	30401460	GOA
involved in multi-pass transmembrane protein insertion into ER membrane	IDA IDA: Inferred from direct assay	36261522	GOA
involved in protein insertion into ER membrane	IDA IDA: Inferred from direct assay	32814900	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	32814900	GOA
part of multi-pass translocon complex	IDA IDA: Inferred from direct assay	36261522	GOA
part of multi-pass translocon complex	IPI IPI: Inferred from physical interaction	36261522	GOA
part of protein folding chaperone complex	IPI IPI: Inferred from physical interaction	32814900	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC47 Protein Structure

DUF1682

0
100
200
300
400
483 a.a.

Protein Preferred Names	Protein Names
PAT complex subunit CCDC47	Calumin

CCDC47 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC47	Q96A33	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	CCDC47	Q96A33	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	CCDC47	Q96A33	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	CCDC47	Q96A33	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	CCDC47	Q96A33	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	CCDC47	Q96A33	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Cross	CCDC47	Q96A33	Sarm1	Mus musculus	Q6PDS3	Anti Tag CoIP	21903422
Intra	CCDC47	Q96A33	WDR83OS	Homo sapiens	Q9Y284	Anti Bait CoIP	32814900
Intra	CCDC47	Q96A33	WDR83OS	Homo sapiens	Q9Y284	Anti Tag CoIP	35271311
Intra	CCDC47	Q96A33	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	CCDC47	Q96A33	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	CCDC47	Q96A33	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CCDC47 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76768	CCDC47 Protein, Human (HEK293, His)	Q96A33 (K21-S135)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Trichohepatoneurodevelopmental Syndrome	THNS
Atypical Choroid Plexus Papilloma	Atypical Papilloma Of Choroid Plexus Atypical Cpp
Choroid Plexus Cancer	Choroid Plexus Carcinoma Choroid Plexus Neoplasms Choroid Plexus Neoplasm Tumor Of Choroid Plexus Tumor Of The Choroid Plexus Choroid Plexus Tumor Choroid Plexus Tumors Anaplastic Choroid Plexus Papilloma Choroid Plexus Papilloma Nos Papilloma Of Choroid Plexus Plexus Choroideus Papilloma Choroid Plexus Papilloma In Fourth Ventricle Plexus Choroideus Papilloma In Fourth Ventricle
Cerebrovascular Benign Neoplasm
Papilloma Of Choroid Plexus	Choroid Plexus Papilloma CPP Childhood Choroid Plexus Papilloma Papilloma Choroid Plexus Papilloma, Choroid Plexus Choroid Plexus Carcinoma
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02047	CCDC47 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20534	Ccdc47 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27043	Ccdc47 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CCDC47	VGNC	VGNC:97373
Canis familiaris	CCDC47	VGNC	VGNC:51936
Rattus norvegicus	CCDC47	RGD	RGD:1308813
Bos taurus	CCDC47	VGNC	VGNC:97247
Mus musculus	CCDC47	MGD	MGI:1914413
Macaca mulatta	CCDC47	VGNC	VGNC:97745
Others	CCDC47	NCBI