2. Gene
  3. CCDC47 - coiled-coil domain containing 47 Gene

CCDC47 - coiled-coil domain containing 47 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as THNS; GK001; MSTP041

Gene ID: 57003 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

DUF1682: Protein of unknown function (DUF1682) (133 - 467)

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  • 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 Reference
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%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02047 CCDC47 Human Pre-designed siRNA Set A Pre-designed Sets / 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