• Gene id: 84062

Gene Summary

• Gene Symbol: DTNBP1   Gene   UCSC   Ensembl
• Aliases: BLOC1S8, DBND, HPS7, My031, SDY
• Gene name: dystrobrevin binding protein 1
• Alternate names: dysbindin, BLOC-1 subunit 8, Hermansky-Pudlak syndrome 7 protein, biogenesis of lysosomal organelles complex-1, subunit 8, biogenesis of lysosome-related organelles complex 1 subunit 8, dysbindin-1,
• Gene location: 6p22.3 (15663057: 15522802)     Exons: 14     NC_000006.12
• Gene summary(Entrez): This 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 organelles c
• OMIM: 607145

Protein Summary

• Protein general information: Q96EV8  
  • Name: Dysbindin (Biogenesis of lysosome related organelles complex 1 subunit 8) (BLOC 1 subunit 8) (Dysbindin 1) (Dystrobrevin binding protein 1) (Hermansky Pudlak syndrome 7 protein) (HPS7 protein)
  • Length: 351  
  • Mass: 39493
  • Tissue specificity: Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2
• Sequence:

  MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHRRAKDCASAGEL
  VDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHM
  QSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPI
  GSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS
  TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS

• Structural information:
  • Interpro: IPR007531  
  • STRING: ENSP00000341680
• Other Databases: GeneCards:  DTNBP1  Malacards:  DTNBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000300	regulation of synaptic vesicle exocytosis	IBA	biological process
GO:0060155	platelet dense granule organization	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0031175	neuron projection development	IBA	biological process
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0048490	anterograde synaptic vesicle transport	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0006469	negative regulation of protein kinase activity	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0031175	neuron projection development	IDA	biological process
GO:0030672	synaptic vesicle membrane	IDA	cellular component
GO:0014069	postsynaptic density	IDA	cellular component
GO:0014059	regulation of dopamine secretion	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0001956	positive regulation of neurotransmitter secretion	ISS	biological process
GO:0060159	regulation of dopamine receptor signaling pathway	ISS	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0043197	dendritic spine	ISS	cellular component
GO:0031532	actin cytoskeleton reorganization	ISS	biological process
GO:0030672	synaptic vesicle membrane	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005829	cytosol	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: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:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0043506	regulation of JUN kinase activity	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0006996	organelle organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0060155	platelet dense granule organization	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0032279	asymmetric synapse	IEA	cellular component
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0016528	sarcoplasm	IEA	cellular component
GO:0014059	regulation of dopamine secretion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0001956	positive regulation of neurotransmitter secretion	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:1904115	axon 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:0031083	BLOC-1 complex	IDA	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0032438	melanosome organization	NAS	biological process
GO:0030424	axon	ISS	cellular component

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Temporal lobe epilepsy	PMID:22337344
Schizophrenia	PMID:15345706
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray