• Gene id: 64747

Gene Summary

• Gene Symbol: MFSD1   Gene   UCSC   Ensembl
• Aliases: SMAP4
• Gene name: major facilitator superfamily domain containing 1
• Alternate names: major facilitator superfamily domain-containing protein 1, smooth muscle cell-associated protein 4,
• Gene location: 3q25.32 (158801263: 158829718)     Exons: 17     NC_000003.12
• OMIM: 0

Protein Summary

• Protein general information: Q9H3U5  
  • Name: Major facilitator superfamily domain containing protein 1 (Smooth muscle cell associated protein 4) (SMAP 4)
  • Length: 465  
  • Mass: 51209
• Sequence:

  MEEEDEEARALLAGGPDEADRGAPAAPGALPALCDPSRLAHRLLVLLLMCFLGFGSYFCYDNPAALQTQVKRDMQ
  VNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIRWGTIIFSCFVCIGQVVFALGGIFNAFWLMEFGRFVFGIGG
  ESLAVAQNTYAVSWFKGKELNLVFGLQLSMARIGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIGGITCILS
  LICALALAYLDQRAERILHKEQGKTGEVIKLTDVKDFSLPLWLIFIICVCYYVAVFPFIGLGKVFFTEKFGFSSQ
  AASAINSVVYVISAPMSPVFGLLVDKTGKNIIWVLCAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALWP
  MVAFVVPEHQLGTAYGFMQSIQNLGLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLLYLVNRAQGGNLN
  YSARQREEIKFSHTE

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000403117
• Other Databases: GeneCards:  MFSD1  Malacards:  MFSD1

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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
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)