• Gene id: 7805

Gene Summary

• Gene Symbol: LAPTM5   Gene   UCSC   Ensembl
• Aliases: CLAST6
• Gene name: lysosomal protein transmembrane 5
• Alternate names: lysosomal-associated transmembrane protein 5, CD40-ligand-activated specific transcripts, human retinoic acid-inducible E3 protein, lysosomal associated multispanning membrane protein 5, lysosomal multispanning membrane protein 5, lysosomal-associated multitra,
• Gene location: 1p35.2 (30757839: 30732468)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]
• OMIM: 601476

Protein Summary

• Protein general information: Q13571  
  • Name: Lysosomal associated transmembrane protein 5 (Lysosomal associated multitransmembrane protein 5) (Retinoic acid inducible E3 protein)
  • Length: 262  
  • Mass: 29937
  • Tissue specificity: Preferentially expressed in adult hematopoietic tissues. High levels in lymphoid and myeloid tissues. Highly expressed in peripheral blood leukocytes, thymus, spleen and lung, followed by placenta, liver and kidney. {ECO
• Sequence:

  MDPRLSTVRQTCCCFNVRIATTALAIYHVIMSVLLFIEHSVEVAHGKASCKLSQMGYLRIADLISSFLLITMLFI
  ISLSLLIGVVKNREKYLLPFLSLQIMDYLLCLLTLLGSYIELPAYLKLASRSRASSSKFPLMTLQLLDFCLSILT
  LCSSYMEVPTYLNFKSMNHMNYLPSQEDMPHNQFIKMMIIFSIAFITVLIFKVYMFKCVWRCYRLIKCMNSVEEK
  RNSKMLQKVVLPSYEEALSLPSKTPEGGPAPPPYSEV

• Structural information:
  • Interpro: IPR004687  IPR018396  IPR018397  
  • STRING: ENSP00000294507
• Other Databases: GeneCards:  LAPTM5  Malacards:  LAPTM5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005764	lysosome	TAS	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: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: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:0005764	lysosome	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R