• Gene id: 94081

Gene Summary

• Gene Symbol: SFXN1   Gene   UCSC   Ensembl
• Aliases: SLC56A1, TCC
• Gene name: sideroflexin 1
• Alternate names: sideroflexin-1, tricarboxylate carrier protein,
• Gene location: 5q35.2 (58228593: 58277496)     Exons: 16     NC_000019.10
• OMIM: 615569

Protein Summary

• Protein general information: Q9H9B4  
  • Name: Sideroflexin 1
  • Length: 322  
  • Mass: 35619
  • Tissue specificity: Highly expressed in tissues with high one-carbon metabolism activity, such as blood, liver and kidney. {ECO
• Sequence:

  MSGELPPNINIKEPRWDQSTFIGRANHFFTVTDPRNILLTNEQLESARKIVHDYRQGIVPPGLTENELWRAKYIY
  DSAFHPDTGEKMILIGRMSAQVPMNMTITGCMMTFYRTTPAVLFWQWINQSFNAVVNYTNRSGDAPLTVNELGTA
  YVSATTGAVATALGLNALTKHVSPLIGRFVPFAAVAAANCINIPLMRQRELKVGIPVTDENGNRLGESANAAKQA
  ITQVVVSRILMAAPGMAIPPFIMNTLEKKAFLKRFPWMSAPIQVGLVGFCLVFATPLCCALFPQKSSMSVTSLEA
  ELQAKIQESHPELRRVYFNKGL

• Structural information:
  • Interpro: IPR004686  
  • STRING: ENSP00000316905
• Other Databases: GeneCards:  SFXN1  Malacards:  SFXN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0022889	serine transmembrane transporter activity	IBA	molecular function
GO:0140300	serine import into mitochondrion	IBA	biological process
GO:1990542	mitochondrial transmembrane transport	IBA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0006730	one-carbon metabolic process	IDA	biological process
GO:0140300	serine import into mitochondrion	IDA	biological process
GO:0042945	D-serine transmembrane transporter activity	IDA	molecular function
GO:0015825	L-serine transport	IDA	biological process
GO:0042942	D-serine transport	IDA	biological process
GO:0015194	L-serine transmembrane transporter activity	IDA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015075	ion transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0006826	iron ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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