• Gene id: 64374

Gene Summary

• Gene Symbol: SIL1   Gene   UCSC   Ensembl
• Aliases: BAP, MSS, ULG5
• Gene name: SIL1 nucleotide exchange factor
• Alternate names: nucleotide exchange factor SIL1, BiP-associated protein, SIL1 homolog, endoplasmic reticulum chaperone, SIL1-like protein endoplasmic reticulum chaperone,
• Gene location: 5q31.2 (139198367: 138946723)     Exons: 13     NC_000005.10
• Gene summary(Entrez): This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for ano
• OMIM: 608005

Protein Summary

• Protein general information: Q9H173  
  • Name: Nucleotide exchange factor SIL1 (BiP associated protein) (BAP)
  • Length: 461  
  • Mass: 52085
  • Tissue specificity: Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low
• Sequence:

  MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEEELDAEVLEVFHPTHE
  WQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLDINTNTYTSQDLKSALAKFKEGAEMESSKED
  KARQAEVKRLFRPIEELKKDFDELNVVIETDMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSF
  GGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHF
  PYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEKLQQYRQVHLLPGLWE
  QGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGRTLASLQAEYQVLASLELQDGEDEGYFQELL
  GSVNSLLKELR

• Structural information:
  • Interpro: IPR011989  IPR016024  
  • STRING: ENSP00000378294
• Other Databases: GeneCards:  SIL1  Malacards:  SIL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0000774	adenyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0006886	intracellular protein transport	NAS	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0051082	unfolded protein binding	NAS	molecular function
GO:0006457	protein folding	NAS	biological process
GO:0005783	endoplasmic reticulum	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Marinesco-Sjogren syndrome	KEGG:H01284
Marinesco-Sjogren syndrome	KEGG:H01284
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq