• Gene id: 2647

Gene Summary

• Gene Symbol: BLOC1S1   Gene   UCSC   Ensembl
• Aliases: BLOS1, BORCS1, GCN5L1, MICoA, RT14
• Gene name: biogenesis of lysosomal organelles complex 1 subunit 1
• Alternate names: biogenesis of lysosome-related organelles complex 1 subunit 1, BLOC-1 subunit 1, GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1, GCN5 general control of amino-acid synthesis 5-like 1, GCN5-like protein 1, MTA1-interacting coactivator,
• Gene location: 12q13.2 (55716033: 55719706)     Exons: 5     NC_000012.12
• Gene summary(Entrez): BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and De
• OMIM: 601444

Protein Summary

• Protein general information: P78537  
  • Name: Biogenesis of lysosome related organelles complex 1 subunit 1 (BLOC 1 subunit 1) (GCN5 like protein 1) (Protein RT14)
  • Length: 153  
  • Mass: 17263
• Sequence:

  MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVA
  QAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQS
  APS

• Structural information:
  • Interpro: IPR009395  
  • STRING: ENSP00000447537
• Other Databases: GeneCards:  BLOC1S1  Malacards:  BLOC1S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0099078	BORC complex	IDA	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0018394	peptidyl-lysine acetylation	IMP	biological process
GO:0009060	aerobic respiration	IMP	biological process
GO:0032418	lysosome localization	IMP	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005765	lysosomal membrane	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0060155	platelet dense granule organization	NAS	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0032438	melanosome organization	NAS	biological process
GO:0032438	melanosome organization	NAS	biological process

Diseases

Associated diseases	References
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)