• Gene id: 284361

Gene Summary

• Gene Symbol: EMC10   Gene   UCSC   Ensembl
• Aliases: C19orf63, HSM1, HSS1
• Gene name: ER membrane protein complex subunit 10
• Alternate names: ER membrane protein complex subunit 10, UPF0510 protein INM02, hematopoietic signal peptide-containing membrane domain-containing 1, hematopoietic signal peptide-containing secreted 1,
• Gene location: 19q13.33 (50476482: 50505904)     Exons: 10     NC_000019.10
• OMIM: 614545

Protein Summary

• Protein general information: Q5UCC4  
  • Name: ER membrane protein complex subunit 10 (Hematopoietic signal peptide containing membrane domain containing protein 1)
  • Length: 262  
  • Mass: 27347
  • Tissue specificity: Present in serum (at protein level). Increased expression seen in the left ventrice after myocardial infarction (at protein level). Expressed in the pituitary gland; very low levels in other brain regions. {ECO
• Sequence:

  MAAASAGATRLLLLLLMAVAAPSRARGSGCRAGTGARGAGAEGREGEACGTVGLLLEHSFEIDDSANFRKRGSLL
  WNQQDGTLSLSQRQLSEEERGRLRDVAALNGLYRVRIPRRPGALDGLEAGGYVSSFVPACSLVESHLSDQLTLHV
  DVAGNVVGVSVVTHPGGCRGHEVEDVDLELFNTSVQLQPPTTAPGPETAAFIERLEMEQAQKAKNPQEQKSFFAK
  YWMYIIPVVLFLMMSGAPDTGGQGGGGGGGGGGGSGR

• Structural information:
  • Interpro: IPR029615  
  • STRING: ENSP00000334037
• Other Databases: GeneCards:  EMC10  Malacards:  EMC10

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:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	ISS	biological process
GO:0010595	positive regulation of endothelial cell migration	ISS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with male fertility via maintaining sperm ion balance	MIK: 29659949
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29659949	Associated with male fertility via maintaining sperm ion balance				Male infertility