• Gene id: 84947

Gene Summary

• Gene Symbol: SERAC1   Gene   UCSC   Ensembl
• Gene name: serine active site containing 1
• Alternate names: protein SERAC1, serine active site-containing protein 1,
• Gene location: 6q25.3 (26244747: 26290464)     Exons: 17     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and in
• OMIM: 614725

Protein Summary

• Protein general information: Q96JX3  
  • Name: Protein SERAC1 (Serine active site containing protein 1)
  • Length: 654  
  • Mass: 74147
  • Tissue specificity: Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus. {ECO
• Sequence:

  MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYI
  YVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLE
  AVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDE
  CIQYFTSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQL
  LQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKY
  QDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIIS
  VEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTR
  GIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIK
  LHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREALAKDLEN

• Structural information:
  • Interpro: IPR029058  IPR011989  IPR016024  
  • STRING: ENSP00000356071
• Other Databases: GeneCards:  SERAC1  Malacards:  SERAC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0036148	phosphatidylglycerol acyl-chain remodeling	IMP	biological process

Diseases

Associated diseases	References
3-Methylglutaconic aciduria	KEGG:H00754
3-Methylglutaconic aciduria	KEGG:H00754
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray