• Gene id: 340596

Gene Summary

• Gene Symbol: LHFPL1   Gene   UCSC   Ensembl
• Gene name: LHFPL tetraspan subfamily member 1
• Alternate names: LHFPL tetraspan subfamily member 1 protein, LHFP-like protein 1, lipoma HMGIC fusion partner like 1, lipoma HMGIC fusion partner-like 1 protein,
• Gene location: Xq23 (112680177: 112630647)     Exons: 6     NC_000023.11
• Gene summary(Entrez): This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-l
• OMIM: 300566

Protein Summary

• Protein general information: Q86WI0  
  • Name: LHFPL tetraspan subfamily member 1 protein (Lipoma HMGIC fusion partner like 1 protein)
  • Length: 220  
  • Mass: 23777
  • Tissue specificity: Widely expressed. Expressed at high levels in lung, thymus, skeletal muscle, colon and ovary. {ECO
• Sequence:

  MRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGEGHSLIMVEECGRYASFNA
  IPSLAWQMCTVVTGAGCALLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGLLISSGCALYPLGWNSPEIMQT
  CGNVSNQFQLGTCRLGWAYYCAGGGAAAAMLICTWLSCFAGRNPKPVILVESIMRNTNSYAMELDHCLKP

• Structural information:
  • Interpro: IPR019372  
  • STRING: ENSP00000361036
• Other Databases: GeneCards:  LHFPL1  Malacards:  LHFPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	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: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)