• Gene id: 118426

Gene Summary

• Gene Symbol: BORCS5   Gene   UCSC   Ensembl
• Aliases: LOH12CR1, LOH1CR12
• Gene name: BLOC-1 related complex subunit 5
• Alternate names: BLOC-1-related complex subunit 5, loss of heterozygosity 12 chromosomal region 1 protein, loss of heterozygosity, 12, chromosomal region 1, myristoylated lysosomal protein, myrlysin,
• Gene location: 12p13.2 (28751747: 28802939)     Exons: 9     NC_000002.12
• OMIM: 616598

Protein Summary

• Protein general information: Q969J3  
  • Name: BLOC 1 related complex subunit 5 (Loss of heterozygosity 12 chromosomal region 1) (Myristoylated lysosomal protein) (Myrlysin)
  • Length: 196  
  • Mass: 22222
  • Tissue specificity: Ubiquitously expressed (at protein level). {ECO
• Sequence:

  MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTS
  PTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETLFSFMQERQKRYAKYAEQIQKVN
  EMSAILRRIQMGIDQTVPLLDRLNSMLPEGERLEPFSMKPDRELRL

• Structural information:
  • Interpro: IPR018780  
  • STRING: ENSP00000321546
• Other Databases: GeneCards:  BORCS5  Malacards:  BORCS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903744	positive regulation of anterograde synaptic vesicle transport	IBA	biological process
GO:0099078	BORC complex	IBA	cellular component
GO:0098574	cytoplasmic side of lysosomal membrane	IBA	cellular component
GO:0032418	lysosome localization	IBA	biological process
GO:0031224	intrinsic component of membrane	IBA	cellular component
GO:0072384	organelle transport along microtubule	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0005873	plus-end kinesin complex	IBA	colocalizes with
GO:0099078	BORC complex	IDA	cellular component
GO:0005873	plus-end kinesin complex	IDA	colocalizes with
GO:0031224	intrinsic component of membrane	IMP	cellular component
GO:0098574	cytoplasmic side of lysosomal membrane	IMP	cellular component
GO:0032418	lysosome localization	IMP	biological process
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:0072384	organelle transport along microtubule	IMP	biological process
GO:0032418	lysosome localization	IEA	biological process
GO:0005764	lysosome	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:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq