• Gene id: 83985

Gene Summary

• Gene Symbol: SPNS1   Gene   UCSC   Ensembl
• Aliases: HSpin1, LAT, PP2030, SLC62A1, SPIN1, SPINL, nrs
• Gene name: sphingolipid transporter 1 (putative)
• Alternate names: protein spinster homolog 1, SPNS sphingolipid transporter 1 (putative), spinster homolog 1, spinster-like protein 1,
• Gene location: 16p11.2 (28973998: 28984768)     Exons: 14     NC_000016.10
• OMIM: 611459

Protein Summary

• Protein general information: Q9H2V7  
  • Name: Protein spinster homolog 1 (HSpin1) (Spinster like protein 1)
  • Length: 528  
  • Mass: 56630
• Sequence:

  MAGSDTAPFLSQADDPDDGPVPGTPGLPGSTGNPKSEEPEVPDQEGLQRITGLSPGRSALIVAVLCYINLLNYMD
  RFTVAGVLPDIEQFFNIGDSSSGLIQTVFISSYMVLAPVFGYLGDRYNRKYLMCGGIAFWSLVTLGSSFIPGEHF
  WLLLLTRGLVGVGEASYSTIAPTLIADLFVADQRSRMLSIFYFAIPVGSGLGYIAGSKVKDMAGDWHWALRVTPG
  LGVVAVLLLFLVVREPPRGAVERHSDLPPLNPTSWWADLRALARNPSFVLSSLGFTAVAFVTGSLALWAPAFLLR
  SRVVLGETPPCLPGDSCSSSDSLIFGLITCLTGVLGVGLGVEISRRLRHSNPRADPLVCATGLLGSAPFLFLSLA
  CARGSIVATYIFIFIGETLLSMNWAIVADILLYVVIPTRRSTAEAFQIVLSHLLGDAGSPYLIGLISDRLRRNWP
  PSFLSEFRALQFSLMLCAFVGALGGAAFLGTAIFIEADRRRAQLHVQGLLHEAGSTDDRIVVPQRGRSTRVPVAS
  VLI

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000309945
• Other Databases: GeneCards:  SPNS1  Malacards:  SPNS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq