• Gene id: 64645

Gene Summary

• Gene Symbol: MFSD14A   Gene   UCSC   Ensembl
• Aliases: HIAT1
• Gene name: major facilitator superfamily domain containing 14A
• Alternate names: hippocampus abundant transcript 1 protein, hippocampus abundant gene transcript 1, putative tetracycline transporter-like protein, tetracycline transporter-like protein,
• Gene location: 1p21.2 (100038077: 100083376)     Exons: 14     NC_000001.11

Protein Summary

• Protein general information: Q96MC6  
  • Name: Hippocampus abundant transcript 1 protein (Major facilitator superfamily domain containing 14A) (Putative tetracycline transporter like protein)
  • Length: 490  
  • Mass: 53027
• Sequence:

  MTQGKKKKRAANRSIMLAKKIIIKDGGTPQGIGSPSVYHAVIVIFLEFFAWGLLTAPTLVVLHETFPKHTFLMNG
  LIQGVKGLLSFLSAPLIGALSDVWGRKSFLLLTVFFTCAPIPLMKISPWWYFAVISVSGVFAVTFSVVFAYVADI
  TQEHERSMAYGLVSATFAASLVTSPAIGAYLGRVYGDSLVVVLATAIALLDICFILVAVPESLPEKMRPASWGAP
  ISWEQADPFASLKKVGQDSIVLLICITVFLSYLPEAGQYSSFFLYLRQIMKFSPESVAAFIAVLGILSIIAQTIV
  LSLLMRSIGNKNTILLGLGFQILQLAWYGFGSEPWMMWAAGAVAAMSSITFPAVSALVSRTADADQQGVVQGMIT
  GIRGLCNGLGPALYGFIFYIFHVELKELPITGTDLGTNTSPQHHFEQNSIIPGPPFLFGACSVLLALLVALFIPE
  HTNLSLRSSSWRKHCGSHSHPHNTQAPGEAKEPLLQDTNV

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  IPR005829  IPR001958  
  • Prosite: PS50850 PS00216
  • STRING: ENSP00000359171
• Other Databases: GeneCards:  MFSD14A  Malacards:  MFSD14A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030382	sperm mitochondrion organization	IEA	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0001675	acrosome assembly	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R