• Gene id: 56851

Gene Summary

• Gene Symbol: EMC7   Gene   UCSC   Ensembl
• Aliases: C11orf3, C15orf24, HT022, ORF1-FL1
• Gene name: ER membrane protein complex subunit 7
• Alternate names: ER membrane protein complex subunit 7, UPF0480 protein C15orf24, chromosome 15 hypothetical ATG/GTP binding protein,
• Gene location: 15q14 (99088787: 99070977)     Exons: 9     NC_000004.12

Protein Summary

• Protein general information: Q9NPA0  
  • Name: ER membrane protein complex subunit 7
  • Length: 242  
  • Mass: 26471
• Sequence:

  MAAALWGFFPVLLLLLLSGDVQSSEVPGAAAEGSGGSGVGIGDRFKIEGRAVVPGVKPQDWISAARVLVDGEEHV
  GFLKTDGSFVVHDIPSGSYVVEVVSPAYRFDPVRVDITSKGKMRARYVNYIKTSEVVRLPYPLQMKSSGPPSYFI
  KRESWGWTDFLMNPMVMMMVLPLLIFVLLPKVVNTSDPDMRREMEQSMNMLNSNHELPDVSEFMTRLFSSKSSGK
  SSSGSSKTGKSGAGKRR

• Structural information:
  • Interpro: IPR013784  IPR019008  IPR039163  
  • PDB: 1B0G 1LP9 2J8U 2JCC 2UWE
  • PDBsum: 1B0G 1LP9 2J8U 2JCC 2UWE
  • STRING: ENSP00000256545
• Other Databases: GeneCards:  EMC7  Malacards:  EMC7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072546	ER membrane protein complex	IBA	cellular component
GO:0072546	ER membrane protein complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0008150	biological_process	ND	biological process

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