• Gene id: 28972

Gene Summary

• Gene Symbol: SPCS1   Gene   UCSC   Ensembl
• Aliases: HSPC033, SPC1, SPC12, YJR010C-A
• Gene name: signal peptidase complex subunit 1
• Alternate names: signal peptidase complex subunit 1, SPase 12 kDa subunit, microsomal signal peptidase 12 kDa subunit, signal peptidase 12kDa, signal peptidase complex 12 kDa subunit, signal peptidase complex subunit 1 homolog,
• Gene location: 3p21.1 (52706105: 52711147)     Exons: 4     NC_000003.12
• OMIM: 610358

Protein Summary

• Protein general information: Q9Y6A9  
  • Name: Signal peptidase complex subunit 1 (EC 3.4. . ) (Microsomal signal peptidase 12 kDa subunit) (SPase 12 kDa subunit)
  • Length: 169  
  • Mass: 18298
• Sequence:

  MARGGDTGCTGPSETSASGAAAIALPGLEGPATDAQCQTLPLTVLKSRSPSPRSLPPALSCPPPQPAMLEHLSSL
  PTQMDYKGQKLAEQMFQGIILFSAIVGFIYGYVAEQFGWTVYIVMAGFAFSCLLTLPPWPIYRRHPLKWLPVQES
  STDDKKPGERKIKRHAKNN

• Structural information:
  • Interpro: IPR037713  IPR009542  
  • STRING: ENSP00000478310
• Other Databases: GeneCards:  SPCS1  Malacards:  SPCS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045047	protein targeting to ER	IBA	biological process
GO:0005787	signal peptidase complex	IBA	cellular component
GO:0006465	signal peptide processing	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0005787	signal peptidase complex	IEA	cellular component
GO:0006465	signal peptide processing	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005787	signal peptidase complex	TAS	cellular component
GO:0019082	viral protein processing	IMP	biological process
GO:0019068	virion assembly	IMP	biological process
GO:0019068	virion assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03060	Protein export

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray