• Gene id: 256987

Gene Summary

• Gene Symbol: SERINC5   Gene   UCSC   Ensembl
• Aliases: C5orf12, TPO1
• Gene name: serine incorporator 5
• Alternate names: serine incorporator 5,
• Gene location: 5q14.1 (80256047: 80111224)     Exons: 17     NC_000005.10
• OMIM: 614551

Protein Summary

• Protein general information: Q86VE9  
  • Name: Serine incorporator 5
  • Length: 423  
  • Mass: 47009
  • Tissue specificity: Highly expressed in placenta, skeletal muscle, spleen, thymus, testis and peripheral leukocyte and is expressed weakly in the heart, liver and fetal brain. {ECO
• Sequence:

  MSAQCCAGQLACCCGSAGCSLCCDCCPRIRQSLSTRFMYALYFILVVVLCCIMMSTTVAHKMKEHIPFFEDMCKG
  IKAGDTCEKLVGYSAVYRVCFGMACFFFIFCLLTLKINNSKSCRAHIHNGFWFFKLLLLGAMCSGAFFIPDQDTF
  LNAWRYVGAVGGFLFIGIQLLLLVEFAHKWNKNWTAGTASNKLWYASLALVTLIMYSIATGGLVLMAVFYTQKDS
  CMENKILLGVNGGLCLLISLVAISPWVQNRQPHSGLLQSGVISCYVTYLTFSALSSKPAEVVLDEHGKNVTICVP
  DFGQDLYRDENLVTILGTSLLIGCILYSCLTSTTRSSSDALQGRYAAPELEIARCCFCFSPGGEDTEEQQPGKEG
  PRVIYDEKKGTVYIYSYFHFVFFLASLYVMMTVTNWFNHVRSAFHLLP

• Structural information:
  • Interpro: IPR029555  IPR005016  
  • DIP: 47313
  • STRING: ENSP00000426237
• Other Databases: GeneCards:  SERINC5  Malacards:  SERINC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006658	phosphatidylserine metabolic process	ISS	biological process
GO:0016020	membrane	IBA	cellular component
GO:0045087	innate immune response	IDA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009597	detection of virus	IDA	biological process
GO:0009597	detection of virus	IDA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0006658	phosphatidylserine metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0051607	defense response to virus	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006564	L-serine biosynthetic process	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042552	myelination	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:1904222	positive regulation of serine C-palmitoyltransferase activity	ISS	biological process
GO:1904219	positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
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