• Gene id: 79794

Gene Summary

• Gene Symbol: SPRING1   Gene   UCSC   Ensembl
• Aliases: C12orf49, SPRING
• Gene name: SREBF pathway regulator in golgi 1
• Alternate names: UPF0454 protein C12orf49, SREBP regulating,
• Gene location: 12q24.22 (116738068: 116710170)     Exons: 5     NC_000012.12

Protein Summary

• Protein general information: Q9H741  
  • Name: UPF0454 protein C12orf49
  • Length: 205  
  • Mass: 23594
• Sequence:

  MVNLAAMVWRRLLRKRWVLALVFGLSLVYFLSSTFKQEERAVRDRNLLQVHDHNQPIPWKVQFNLGNSSRPSNQC
  RNSIQGKHLITDELGYVCERKDLLVNGCCNVNVPSTKQYCCDGCWPNGCCSAYEYCVSCCLQPNKQLLLERFLNR
  AAVAFQNLFMAVEDHFELCLAKCRTSSQSVQHENTYRDPIAKYCYGESPPELFPA

• Structural information:
  • Interpro: IPR019352  
  • STRING: ENSP00000261318
• Other Databases: GeneCards:  SPRING1  Malacards:  SPRING1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IDA	cellular component
GO:2000640	positive regulation of SREBP signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	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:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray