CCDC47 information

CCDC47
Identifiers
Aliases	CCDC47, MSTP041, GK001, coiled-coil domain containing 47, THNS
External IDs	OMIM: 618260; MGI: 1914413; HomoloGene: 41351; GeneCards: CCDC47; OMA:CCDC47 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	63,776,351 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	106,107,170 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; islet of Langerhans; ; rectum; ; right ventricle; ; parotid gland; ; mucosa of sigmoid colon; ; Skeletal muscle tissue of biceps brachii; ; gastrocnemius muscle; ; cartilage tissue; ; Skeletal muscle tissue of rectus abdominis;
	Top expressed in
	ciliary body; ; retinal pigment epithelium; ; iris; ; Paneth cell; ; vestibular sensory epithelium; ; skin of external ear; ; seminal vesicula; ; pineal gland; ; conjunctival fornix; ; vestibular membrane of cochlear duct;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding; protein binding; RNA binding;
Cellular component	integral component of membrane; rough endoplasmic reticulum; membrane; endoplasmic reticulum;
Biological process	post-embryonic development; calcium ion homeostasis; osteoblast differentiation; endoplasmic reticulum organization; ubiquitin-dependent ERAD pathway; ER overload response;
	Sources:Amigo / QuickGO
Orthologs
	57003
	67163
	ENSG00000108588
	ENSMUSG00000078622
	Q96A33
	Q9D024
	NM_020198
	NM_026009
	NP_064583
	NP_080285
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the protein CCDC47. The gene has several aliases including GK001 and MSTP041. The protein itself contains coiled-coil domains, the SEEEED superfamily, a domain of unknown function (DUF1682) and a transmembrane domain. The function of the protein is unknown, but it has been proposed that CCDC47 is involved in calcium ion homeostasis and the endoplasmic reticulum overload response.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108588 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000078622 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "AceView". NCBI. Retrieved 1 March 2014.^{[permanent dead link]}

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108588 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000078622 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "AceView". NCBI. Retrieved 1 March 2014.^{[permanent dead link]}