• Gene id: 9741

Gene Summary

• Gene Symbol: LAPTM4A   Gene   UCSC   Ensembl
• Aliases: HUMORF13, LAPTM4, MBNT, Mtrp
• Gene name: lysosomal protein transmembrane 4 alpha
• Alternate names: lysosomal-associated transmembrane protein 4A, golgi 4-transmembrane-spanning transporter MTP, lysosomal-associated protein transmembrane 4 alpha, membrane nucleoside transporter,
• Gene location: 2p24.1 (20051627: 20032649)     Exons: 11     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membr
• OMIM: 618837

Protein Summary

• Protein general information: Q15012  
  • Name: Lysosomal associated transmembrane protein 4A (Golgi 4 transmembrane spanning transporter MTP)
  • Length: 233  
  • Mass: 26801
• Sequence:

  MVSMSFKRNRSDRFYSTRCCGCCHVRTGTIILGTWYMVVNLLMAILLTVEVTHPNSMPAVNIQYEVIGNYYSSER
  MADNACVLFAVSVLMFIISSMLVYGAISYQVGWLIPFFCYRLFDFVLSCLVAISSLTYLPRIKEYLDQLPDFPYK
  DDLLALDSSCLLFIVLVFFALFIIFKAYLINCVWNCYKYINNRNVPEIAVYPAFEAPPQYVLPTYEMAVKMPEKE
  PPPPYLPA

• Structural information:
  • Interpro: IPR004687  IPR018396  
  • STRING: ENSP00000175091
• Other Databases: GeneCards:  LAPTM4A  Malacards:  LAPTM4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	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:0012505	endomembrane system	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881