• Gene id: 55330

Gene Summary

• Gene Symbol: BLOC1S4   Gene   UCSC   Ensembl
• Aliases: BCAS4L, BLOS4, CNO
• Gene name: biogenesis of lysosomal organelles complex 1 subunit 4
• Alternate names: biogenesis of lysosome-related organelles complex 1 subunit 4, BLOC-1 subunit 4, biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino, cappuccino homolog, protein cappuccino homolog,
• Gene location: 4p16.1 (6716173: 6717663)     Exons: 1     NC_000004.12
• Gene summary(Entrez): This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related o
• OMIM: 605695

Protein Summary

• Protein general information: Q9NUP1  
  • Name: Biogenesis of lysosome related organelles complex 1 subunit 4 (BLOC 1 subunit 4) (Protein cappuccino homolog)
  • Length: 217  
  • Mass: 23351
• Sequence:

  MEGSFSDGGALPEGLAEEAEPQGAAWSGDSGTVSQSHSSASGPWEDEGAEDGAPGRDLPLLRRAAAGYAACLLPG
  AGARPEVEALDASLEDLLTRVDEFVGMLDMLRGDSSHVVSEGVPRIHAKAAEMRRIYSRIDRLEAFVRMVGGRVA
  RMEEQVTKAEAELGTFPRAFKKLLHTMNVPSLFSKSAPSRPQQAGYEAPVLFRTEDYFPCCSERPQL

• Structural information:
  • Interpro: IPR024857  
  • STRING: ENSP00000318128
• Other Databases: GeneCards:  BLOC1S4  Malacards:  BLOC1S4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0070527	platelet aggregation	IEA	biological process
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0032438	melanosome organization	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0032438	melanosome organization	NAS	biological process

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