• Gene id: 57003

Gene Summary

• Gene Symbol: CCDC47   Gene   UCSC   Ensembl
• Aliases: GK001, MSTP041, THNS
• Gene name: coiled-coil domain containing 47
• Alternate names: coiled-coil domain-containing protein 47, Calumin,
• Gene location: 17q23.3 (63773596: 63745254)     Exons: 14     NC_000017.11
• OMIM: 618260

Protein Summary

• Protein general information: Q96A33  
  • Name: Coiled coil domain containing protein 47 (Calumin)
  • Length: 483  
  • Mass: 55874
• Sequence:

  MKAFHTFCVVLLVFGSVSEAKFDDFEDEEDIVEYDDNDFAEFEDVMEDSVTESPQRVIITEDDEDETTVELEGQD
  ENQEGDFEDADTQEGDTESEPYDDEEFEGYEDKPDTSSSKNKDPITIVDVPAHLQNSWESYYLEILMVTGLLAYI
  MNYIIGKNKNSRLAQAWFNTHRELLESNFTLVGDDGTNKEATSTGKLNQENEHIYNLWCSGRVCCEGMLIQLRFL
  KRQDLLNVLARMMRPVSDQVQIKVTMNDEDMDTYVFAVGTRKALVRLQKEMQDLSEFCSDKPKSGAKYGLPDSLA
  ILSEMGEVTDGMMDTKMVHFLTHYADKIESVHFSDQFSGPKIMQEEGQPLKLPDTKRTLLFTFNVPGSGNTYPKD
  MEALLPLMNMVIYSIDKAKKFRLNREGKQKADKNRARVEENFLKLTHVQRQEAAQSRREEKKRAEKERIMNEEDP
  EKQRRLEEAALRREQKKLEKKQMKMKQIKVKAM

• Structural information:
  • Interpro: IPR012879  
  • STRING: ENSP00000225726
• Other Databases: GeneCards:  CCDC47  Malacards:  CCDC47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0036503	ERAD pathway	IMP	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0006983	ER overload response	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881